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Industry News

Find here a listing of the latest industry news in genomics, genetics, precision medicine, and beyond. Updates are provided on a monthly basis.

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News for the month of March 2019

March brought us some exciting CRISPR news. Feng Zhan unveiled the latest CRISPR startup, Sherlock Biosciences, with the announcement of $35M in funding. Also, Cardea Bio, a leading manufacturer of commercial-quality graphene digital biosensors, together with Nanosens Innovations, introduced a new CRISPR-Chip for fast mutation detection.

Other highlights of the month include that genetic data from 50,000 UK Biobank participants was made available to the global health research community and Ned Sharpless, director of the  NCI, to be named acting FDA commissioner.

Genetics/ Genomic Testing

Liquid biopsy-based test as good as tissue-based tests for identifying treatment for lung cancer
Guardant360, detected biomarkers at a rate similar to that of standard-of-care tissue genotyping tests but with a faster turn-around time, according to data presented during a media preview of the AACR Annual Meeting 2019.

Precision Medicine

Largest-ever Alzheimer’s gene study brings new answers
Analysis involving data from more than 35,000 individuals with late-onset AD via data sharing.

New genetic data on 50,000 UK Biobank participants made available to the global health research community 
New UK Biobank genetic data of 50,000 UK Biobank participants becomes available to health researchers, offering an unprecedented resource to enhance understanding of human biology and aid in therapeutic discovery. It was generated through a collaboration between UK Biobank, Regeneron (US) and GSK (UK) and is linked to detailed health records, imaging and other health-related data.

Death by 1,000 clicks: Where electronic health records went wrong 
The U.S. government claimed that turning American medical charts into electronic records would make health care better, safer, and cheaper. Ten years and $36 billion later, the system is an unholy mess. Inside a digital revolution that took a bad turn.

Artificial Intelligence / Machine Learning

New MMC Ventures report finds that 40% of European AI-startups overstate artificial intelligence classification and don’t actually use/apply it right now in their field of business
The report reviewed the activities, focus and funding of 2,830 purported AI startups in the 13 EU countries most active in AI – Austria, Denmark, Finland, France, Germany, Ireland, Italy, the Netherlands, Norway, Portugal, Spain, Sweden and the United Kingdom.

Stanford University launches the Institute for Human-Centered Artificial Intelligence​
The institute is committed to studying, guiding and developing human-centered AI technologies & applications. It includes 200 participating faculty from all seven schools and partners with industry, governments and commercial organizations.

The Pharmaceutical Industry

Biogen halts studies of closely watched Alzheimer’s drug, a blow to hopes for new treatment
They were halting two Phase 3 clinical trials of aducanumab, a drug that was designed to slow the worsening of Alzheimer’s by targeting brain-destroying protein fragments known as beta-amyloid. An interim analysis conducted revealed that aducanumab was unlikely to benefit Alzheimer’s patients compared to placebo when the trials completed.


Roche scores first U.S. approval of immunotherapy for breast cancer
Tecentriq (atezolizumab), a PD-L1 inhibitor, scored its fifth Food and Drug Administration approval for advanced triple-negative breast cancer.


Cardea Bio, leading manufacturer of commercial-quality graphene digital biosensors, together with Nanosens Innovations, introduces the new CRISPR-Chip
The new chip has the potential to detect genetic mutations within minutes.


Blockchain’s Potential In Clinical Research
Disa Lee Choun, Global Clinical Sciences & Operations at UCB discusses the challenges of adopting blockchain in clinical research, as well as use-cases of it being effective.

Blockchain and AI: Leading the Way to the Fourth Industrial Revolution Against the Odds
Both AI and blockchain work on the principle of analyzing vast amounts of data and solving the issues of specific industries.


Apple Heart Study demonstrates ability of wearable technology to detect atrial fibrillation
Study included 400K participants – 0.5% received irregular pulse notifications with 34% of those were found to have atrial fibrillation.

New opioid epidemic ‘hot spots’ emerge in USA. Once considered largely a Midwest problem, opioid mortality is rising quickly in Eastern U.S.

UK launches National Genomic Healthcare strategy

Ned Sharpless, director of the NCI, to be named acting FDA commissioner


Assessment of a deep learning model based on electronic health record data to forecast clinical outcomes in patients with rheumatoid arthritis
The model is able to accurately predict the prognosis of patients with rheumatoid arthritis (RA).

Variant calling best practices benefit the cancer diagnostic community
Investigators associated with the GA4GH explained how methods for calling variants within “truth sets,” or high-confidence regions, can be standardized. The tools of best practice were used in PrecisionFDA, the agency’s pilot program on best practices in variant calling.

Whole exome sequencing and characterization of coding variation in 49,960 individuals in the UK Biobank

The ethics of sequencing infectious disease pathogens for clinical and public health

Science Magazine – special edition on pediatric cancer

The Missing Diversity in Human Genetic Studies

Mergers/ Partnerships & Acquisitions

Natera and BGI Genomics announce $50M partnership to commercialize Signatera Oncology test in China
They also plan to develop Reproductive Health Tests in Select Markets on BGI’s DNBseq™ Technology Platform.


Off-the-shelf CAR-T and gene-editing player Precision Bio files $100M IPO

Intermountain Healthcare genomics division awards $400K for precision medicine research to Stanford University, Huntsman Cancer Institute, and Vivid Genomics

Forensic genomics firm Othram raises $4M

Feng Zhan unveils latest CRISPR startup Sherlock Biosciences with the announcement of $35M in funding

Inivata, a Cambridge UK company in liquid biopsy, has completed a Series B fundraising of $52.6m

BillionToOne raises $15M in Series A

News for the month of February 2019

In February, the NHS commissioned Topol Review was released. Using expert opinion from across the UK and overseas, the report provides guidance on preparing the healthcare workforce to deliver the digital future. It highlights that within 20 years, 90% of all jobs require some element of digital skills. Therefore, it is critical for doctors to be trained in genomics, artificial intelligence, and digital healthcare technologies.

Acquisitions in the pharmaceutical industry were another highlight of the month. Roche agreed to purchase US gene therapy company Spark Therapeutics for approximately $4.8 billion. Spark Therapeutic is the maker of Luxturna, a one-time gene therapy for individuals with an inherited retinal disease. Johnson & Johnson has agreed to buy surgical robotics company Auris Health. This purchase moves J&J into the lung-cancer diagnostic and treatment space.


Leading health and research organizations launch the Medical Genome Initiative
Eight health care & research organizations in the US & Canada have signed an agreement to launch the Medical Genome Initiative, a consortium that will work to expand access to high-quality clinical whole genome sequencing (cWGS) for the diagnosis of genetic diseases – includes Baylor Genetics, Hudson Alpha Institute for Biotechnology, SickKids Foundation, Stanford University, Mayo Clinic, Broad Institute, Rady Children’s Hospital, and Illumina.

Oxford Nanopore launches new cDNA Kits for its sequencing technology
The new kits provide high throughput whilst generating complete sequences of full-length cDNA strands, with a low input option of just 1ng PolyA+ RNA.

ArcherDX enters into strategic collaboration with Genosity
ArcherDX, a molecular technology company dedicated to developing breakthrough solutions that advance various applications in precision medicine has entered into a broad strategic collaboration with Genosity, a biotechnology company that provides expertise, software and technical solutions.

Incomplete genomics: Adding new sequences to the reference genome
Sequencing experts fill in gaps, confront genomic diversity, and ponder the complexities posed by multiple reference genomes.

Genetics/ Genomic Testing

Invitae more than doubles annual volume and revenue year-over-year. Delivering 117% in revenue growth driven by 102% growth in volume in 2018
Annual volume, revenue exceed increased guidance for full-year 2018. Guided to more than 500,000 test samples, $220 million in revenue expected in 2019.

More than 26 million people have taken an at-home ancestry test
The testing frenzy is creating two superpowers—Ancestry of Lehi, Utah, and 23andMe of Mountain View, California. These privately held companies now have some of the world’s largest collections of human DNA.

Precision Medicine

QIAGEN informatics solutions chosen to support Genomics England’s bold five million genomes in five years project
Includes access to Qiagen Clinical insights (QCI) for hereditary diseases and access to HGMD Online, a part of the QCI portfolio, for all NHS users.

Digital Health

The Eric Topol review: Preparing the healthcare workforce to deliver the digital future
Doctors should be trained in genomics, artificial intelligence (AI), and digital healthcare technologies, the government (NHS England) commissioned Topol review has said.

The Pharmaceutical Industry

What is a data science mindset — and does pharma R&D really need one?
An article by David Shaywitz: Data scientists are optimistic about the opportunity to improve how new medicines are discovered and delivered; most traditional medical scientists (including most pharma researchers) are skeptical that these new approaches will deliver benefit to patients, but convincible, saying, appropriately: “show me the data.”

Will cell and gene therapies disrupt drug reimbursement?
The goal is to make new medicines more affordable by focusing on results, as such Novartis reimburses Kymriah cost in full if the drug treatment doesn’t work.

Roche and Forma Therapeutics cutting jobs in Massachusetts
The cuts are slated to begin in March and be completed by the end of March 2020. The report did not provide specifics of why.


Following U.S. and U.K., CAR T-cell cancer therapy approved in Japan for young ALL leukemia patients
The CAR T-cell therapy is likely to join the list of drugs and treatments covered by the system as early as May.

Aggressive brain cancer: Why does immunotherapy fail?
Immunotherapy actually helps fewer than 1 in 10 people with glioblastoma.

Immunotherapy combination generates responses against castration-resistant metastatic prostate cancer
Two checkpoint inhibitors provide early encouraging results for immunologically cold disease.

Discovery of new ‘checkpoint’ points to new cancer immunotherapy option
Vanderbilt researchers have discovered that a new “checkpoint” protein on immune system cells is active in tumors.


New strategy improves efficiency of CRISPR-Cas9 genome editing
The efficiency of CRISPR genome editing tools targeted to the site of interest by Cas9 nucleases varies considerably and a new CMP-fusion strategy, called CRISPR-chrom, enhances the activity up to several-fold. CRISPR-chrom works by fusing a Cas9 to chromatin-modulating peptides (CMPs).

CRISPR corrects Duchenne muscular dystrophy (DMD) in mice for a year in Sarepta-supported study
A single treatment of CRISPR in mice corrected the disease for more than a year. During that time, the mice did exhibit immune responses to the Cas9 enzyme used for gene editing, but the effects were not toxic to the animals.


Bitfury’s new partnership to build blockchain-based medical imaging platform
Blockchain tech company Bitfury is partnering with radiology blockchain marketplace Medical Diagnostic Web (MDW) to create a blockchain-based medical imaging ecosystem.

Prototype of running clinical trials in an untrustworthy environment using blockchain
Advocates that this service could offer an improvement in clinical trial data management, and could bolster trust in the clinical research process and the ease at which regulators can oversee trials (an Atul Butte lab research paper).


Targets versus drugs
The discovery of a “new target or pathway” is not the same as finding a “new drug.”

Genome sequencing stocks on the rise
A close look at Illumina, Myriad Genetics, Genomic Health, and Sarepta Therapeutics.

Repositive’s personal shopper aims to ease access to its cancer models
The Repositive platform holds a directory of cancer models from 14 CROs with ongoing expansion.

Ten European genomics companies to watch out for
And the companies are: Congenica, Dante Labs, deCODE, Eurofins Genomics, F2G, Oxford Nanopore, MediSapines, QIAGEN, NRGene, and Sophia Genetics.

The average American would rather share their health data with pharmaceutical companies, health insurers, and the government than with tech companies like Amazon and Facebook.
Only 11% are willing to share their health data with tech companies, a Rock Health 4,000 participant survey shows.

Peer review could help smoke out the next Theranos

How to Delete Your Data From 23andMe, Ancestry, and Other Sites
A great overview of why there’s reason to have privacy concerns regarding most current DTC genetic testing services and how to delete your data from them if you choose to.

Florence and SignalPath announced a strategic partnership to optimize clinical research operations through the integration of their industry leading offerings
The partnership creates a seamless experience for mutual customers of SignalPath’s clinical trial management system (CTMS) and Florence’s regulatory document management software (eRegulatory).

Health research: Applying genome technologies to the study of disease
Interview with Dr Carolyn M. Hutter, PhD, Director, Division of Genome Sciences at the National Human Genome Research Institute (NHGRI)

Genomic Health Q4 revenues rise 22 percent; International efforts expected to push 2019 growth


New immunotherapy treatment removes all tumors in woman with advanced metastatic breast cancer
Naturally-occurring tumor infiltrating lymphocytes (TILs) extracted from the patient’s tumor, grown outside to boost their numbers and injected back into the patient to tackle the cancer. The patient is still in remission 22 months later!

The single cell transcriptional landscape of mammalian organogenesis

Ten years of Genome Medicine

New 3-D imaging technique reveals how pancreatic cancers start

Largest study to date on prostate cancer patients finds 17% have disease-causing variant

Immune and genomic correlates of response to anti-PD-1 immunotherapy in glioblastoma

Antibody could increase cure rate for blood, immune disorders
An antibody to a protein on blood-forming stem cells may allow bone marrow transplants without the need for chemotherapy and radiation, according to a Stanford study.

Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysis

Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico

Viruses that linger in the gut could trigger type 1 diabetes

Four new DNA letters double life’s alphabet
Synthetic DNA seems to behave like the natural variety, suggesting that chemicals beyond nature’s four familiar bases could support life on Earth.

Mergers/ Partnerships & Acquisitions

Swiss pharmaceutical company Roche is set to purchase US gene therapy company Spark Therapeutics for approximately $4.8 billion
Spark Therapeutic has pioneered treatments for haemophilia A and plans to charge $425,000 per eye in a blindness treatment approved by the FDA in 2017.

J&J acquires robotic-surgery firm Auris for $3.4 billion

Merck to buy immunotherapy developer Immune Design for $300M

Foundation Medicine signs $111M contract with Department of Veterans Affairs

Genomenon and Diploid sign partnership agreement to accelerate rare disease diagnostics

MolecularMD is acquired by ICON


Bolt Biotherapeutics raised $54 million
In support of their research to develop drugs intended to turn cold tumors – the majority of cancers – into “hot” tumors so that other immunotherapies can work.

DNAnexus Closes $68M Series F Round
GV and WuXi NextCode both returned to back a $68M round for DNANexus, bringing the biomedical informatics platform’s total funding to approximately $173M.

Health Catalyst Secures up to $100 Million in Series F and Dept financing and reaches a $1 billion valuation

Women scientists inhibited by funding methods that favor men, researchers say

Biocartis successfully raises Eur 80 million in an equity placement

Broad Institute launches Gerstner Center for Cancer Diagnostics
The Broad Institute has received $25 million commitments to establish a research center focused on developing liquid biopsy and other diagnostic technologies for cancer. It will build on previous research into the mechanisms of cancer drug resistance that was launched in 2015 with $10 million from the Gerstner Family Foundation.

Google Venture firm taps David Schenkein to lead life-sciences investments

Emedgene raises $6 million to scale genomics-based care with AI

Microbiome analysis firm Phylagen closes $14M Series A round

Teckro nabs $25M Series C to speed up clinical trials

Yourgene “Effectively Debt Free” after deal with life technologies

News for the month of January 2019

January brought the exciting news that Sanofi and GSK have joined up with FinnGen, a project collecting genomic and health data from 500,000 participants in Finland. This project is likely to accelerate advancements in precision medicine and roughly 1 in every 25 Finns has already taken part. Besides a large number of announcements accompanying the JP Morgan Healthcare conference – see our conference summary – it was also a big month for funding. Sophia Genomics raised $77M, 10X Genomics raised $35M, Roswell Biotechnologies raised $32M, and Genomenon completed a $2.5M round. 2019 is off to an extraordinary start!


Consumer genomics poised for growth in 2019 as providers diversify offerings
Justin Petron digested over a dozen interviews to summarize the findings in this article..

Sanofi and GSK have joined up with a project collecting genomic and health data from 500,000 participants in Finland, which could help to develop personalized medicine
The project, called FinnGen, aims to collect biological samples and health data from 500,000 Finns by 2023. FinnGen focuses on regions encoding genes, and the variations therein. So far the project has collected 222,000 samples since 2017, which makes up roughly 1 in every 25 Finns.

Illumina announces that the FDA granted Breakthrough Device Designation for its pan-cancer assay
Currently in development, with plans to be marketed as TruSight™ Oncology Comprehensive, the assay is based on the content of Illumina’s TruSight™ Oncology 500 (TSO 500), designed to detect known and emerging solid tumor biomarkers.

DNA extraction remains bottleneck for long-read techs but solutions begin to emerge

Precision Medicine

Verily’s wearable smartwatch EKG feature gets FDA nod
While the study watch was designed as an investigational tool, it’s likely the company will integrate features developed on the device onto its more consumer-oriented offerings.

Tens of thousands in Hong Kong to have their DNA sequenced in government-backed genome project
The Hong Kong Genome Project would cover 20,000 cases. As two or more samples might be collected in a case, such as collecting data from a patient and their parents for an undiagnosed genetic disorder, it was estimated the project would sequence 40,000 to 50,000 genomes.​

Meet a new member of the health care team: the electronic health record
The goal is to better able to derive information from the vast amounts of data that oftentimes sit trapped inside electronic health records.

Pharma/ Companion Dx

Orphan drugs dominate FDA’s record-breaking year
Well over half of the new approvals were for rare diseases, helped by an FDA drive to eliminate a backlog in orphan drug reviews that kicked off with the Orphan Drug Modernisation Plan (ODMP) in 2017.

The new drugs of 2018
59 newly approved drugs, incl. an RNA interference drug (Alnylam Pharmaceuticals’ Onpattro) & 19 work by a novel mechanism of action.

Repositive Cancer Models Platform becomes the largest global marketplace for translational cancer models to support precision medicine
With over 4,540 cancer models submitted to date from 14 Contract Research Organisations (CROs), including Antineo, Shanghai LIDE and Xentech, Repositive’s marketplace enables biopharma researchers to quickly find the translational models they need, helping to accelerate the development of personalised cancer treatments to the clinic.

Cheap drugs have a hidden cost
Data, documents and interviews show how a focus on cutting prices has come with risks to consumer health.

3 reasons buying Celgene right now makes sense

Bristol-Myers Squibb’s $74 billion acquisition of Celgene would combine two troubled companies

Qiagen secures first companion diagnostic approval in Japan


New blockchain collaboration launches with Aetna, Anthem, and HCSC
Even as the hype around cryptocurrencies like Bitcoin have died down, major players are investing in applications to bring blockchain to healthcare.

Genetics/ Genomic Testing

NHS to offer paid-for DNA tests if patients share data
People in England will be able to pay the NHS to sequence their genes on condition they share their data.

Invitae expects to double revenues, test volume in 2018
Invitae reports more than 100% in volume (> 302,000 samples) and revenue (> $144 million) growth in 2018.

23andMe will add weight-loss advice to its DNA-testing services
Company is partnering with an AI weight-loss coaching service.

All of Us research program to pilot return of genetic results, integrate devices and apps this year
The National Institutes of Health’s All of Us Research Program this year will pilot returning genetic test results to participants.


CRISPR Therapeutics and Vertex announce FDA fast track designation for CTX001 for the treatment of Sickle Cell Disease
CTX001 is an investigational, autologous, gene-edited hematopoietic stem cell therapy for patients suffering from severe hemoglobinopathies.

He Jiankui fired in wake of CRISPR babies investigation

Artificial Intelligence

The machine learning race is really a data race
Organizations that hope to make AI a differentiator need to draw from alternative data sets — ones they may have to create themselves.

Rewiring R&D: The promises of digital, AI, & machine learning for biotech research
Dr. Daphne Koller: “The problem of predicting of what’s going to be presented on a cell’s surface, for instance, is not AI: Because people can’t actually solve this problem.”

AI drug development hit the news
A flight over this new ecosystem looking for the bright lights of a rigorous developing market.

PATH: New organization fostering AI, automation and healthcare

Novartis CEO who wanted to bring tech into pharma now explains why it’s so hard

Using Artificial Intelligence to catch irregular heartbeats

Data Sharing

Genetic Alliance and LunaPBC partner to support personal health and accelerate medical breakthroughs
Over the course of 2019, the organizations will merge Genetic Alliance’s Platform for Engaging Everyone Responsibly engagement platform with LunaDNA to provide individuals and communities with more resources to support health management while maximizing research opportunities.


3 reasons why CVS Health thinks its $78 billion bet can make you a lot of money
CVS Health spent a fortune to buy Aetna. CEO Larry Merlo explained at the J.P. Morgan Healthcare Conference why it should pay off for investors.

Where’s Big Tech at biopharma’s big bash?
How long it will be until we see CEOs of Google, Apple, and Amazon presenting to investors on the JPM main stage?

A New Test Predicts When You’ll Die (Give or Take a Few Years)
And insurance companies are already interested.

Technologies to watch in 2019
From higher-resolution imaging to genome-sized DNA molecules built from scratch, the year ahead looks exciting for life-science technology.

Scientists Have Been Studying Cancers in a Very Strange Way for Decades
By growing cells in unrealistic liquids, they may have inadvertently skewed the results of their experiments.

The health of the world in 2018, by the numbers

Circulating tumor cell capture technologies expand in 2018


A call for deep-learning healthcare
Atul Butte and team argue that now is the time to create smarter healthcare systems in which the best treatment decisions are computationally learned from electronic health record data by deep-learning methodologies.

Are drug targets with genetic support twice as likely to be approved?
Revised estimates of the impact of genetic support for drug mechanisms on the probability of drug approval

Clinical application of genome and exome sequencing as a diagnostic tool for pediatric patients: a scoping review of the literature

New biomarker (ubiquilin-4) links cancer progression to genome instability

Deciphering the genomic, epigenomic, and transcriptomic landscapes of pre-invasive lung cancer lesions

Approaches to treat immune hot, altered and cold tumours with combination immunotherapies

Highly-accurate long-read sequencing improves variant detection and assembly of a human genome

Errors in long-read assemblies can critically affect protein prediction

The variability of expression of many genes and most functional pathways is observed to increase with age in brain transcriptome data

Barcode identification for single cell genomics

Assessing the pathogenicity, penetrance, and expressivity of putative disease-causing variants in a population setting

Extensive unexplored human microbiome diversity revealed by over 150,000 genomes from metagenomes spanning age, geography, and lifestyle

Mergers/ Partnerships & Acquisitions

BMS to buy Celgene in deal worth $74 billion

Eli Lilly to buy Loxo Oncology for $8 billion in huge bet on cancer genetics

QIAGEN to acquire N-of-One
The company said the addition of N-of-One will enable QIAGEN to significantly expand its decision-support solutions while offering a broader range of software, content and service-based solutions.


Sophia Genetics raises $77M in Series E

10X Genomics raises $35 million for cell sequencing – an extension of its April Series D round

Genomenon completes $2.5M financing round

Microsoft’s venture fund invests in healthcare startup Innovaccer

Roswell Biotechnologies Raises $32M in Series A Round

Sanofi to exit immuno-oncology collaboration with Regeneron

The AI market is growing, but how quickly is tough to pin down

News for the month of December 2018

2018 came to an end with some superb news from Genomics England. The UK has sequenced 100,000 whole genomes and they offered gratitude for all involved in the project. LunaDNA came on the scene with a fresh approach to advancing genetic research. They will be paying individuals in stock to share their information with scientists and plan to give users regular payouts when the company starts making money.

At enlightenbio, we had a fun and busy 2018 analyzing the clinical NGS market for our market research report and working on custom product management and marketing projects. Happy New Year and a big thanks to our clients and partners!


Pioneering 100,000 genomes project reaches its goal and thanks all involved
Genomics England sequenced 100K genomes in the NHS.

DNA Zoo website launched
The DNA Zoo is a consortium focused on facilitating conservation efforts through the rapid generation and release of high-quality genomics resources. These efforts can not only aid threatened nonhuman populations but will greatly facilitate the understanding of the Homo sapiens.

A tiny startup wants to pay you for your DNA and offers stock for the data in bid to build research database
LunaDNA is taking a new approach to genetic research by paying individuals to share their information with scientists. LunaDNA plans to share its equity and anticipated profits with people who hand over their health and genomic data, and hopes the feel-good boost from potentially contributing to medical advances and a bit of pocket change will incentivize potential contributors.

Qiagen launched CLC Genomics Workbench 12.0 and CLC Microbial Genomics Module 4.0

Hackers go after genome data

New low-input protocol enables high-quality genome created from single mosquito

Israel to sequence 100K people, create genomic database to support ‘digital health’

Precision Medicine

FDA recognizes genomic database to advance precision medicine
For the first time, the agency is recognizing a public genomic database as a source of valid information to accelerate precision medicine development.

The Governor’s Office of Planning and Research announced the release of “Precision Medicine: An Action Plan for California.”
This report presents actions the state and partners can take to ensure California continues to play a global leadership role in precision health and medicine – access the report.

Apple now has dozens of doctors on staff, showing it’s serious about health tech

Personalized medicine 2018: More drugs, greater NGS adoption, growing appreciation of Dx value

How personalized medicine is transforming your health care

Pharma/ Companion Dx

Roche signs companion Dx deal with Merck
The partnership is for the purpose of the development of a companion diagnostic test to identify patients eligible to receive Merck’s anti-PD-1 therapy Keytruda.


Gilead, Agenus launch $1.85B+ immuno-oncology collaboration
The partnership with Agenus will develop and commercialize up to five novel immuno-oncology (I-O) treatments.

Immune cells track hard-to-target brain tumours
Clinical trials reveal that personalized vaccines can boost immune-cell responses to brain tumours that don’t usually respond to immunotherapy. The findings also point to how to improve such treatments.

Imugene meets all endpoints in phase 1b gastric cancer immuno-oncology trial: Tumour reduction in gastric cancer

Genetics/ Genomic Testing

Announcing a new genotyping array, the Infinium™ Global Diversity Array, and a scientific contribution to 3 genome centers to support All of Us research
Illumina announced the launch of its new high-density genotyping array, the Infinium™ Global Diversity Array developed for and inspired by the All of Us Research Program.

Cancer genetic studies explore prognostic value of copy number alterations, other biomarkers

The Promise – and heartbreak – of cancer genomics


Jennifer Doudna, co-inventor of CRISPR, is named one of America’s Top 50 Women in Tech by Forbes 

We have ways to stop rogue scientists. They don’t always work.

Artificial Intelligence

Pharma’s AI future
The industry has been doing bioinformatics, business intelligence, cheminformatics, text analytics, and QSAR for years.

Google to open artificial intelligence lab in Princeton and collaborate with University researchers
Two Princeton University computer science professors will lead a new Google AI lab opening in January in the town of Princeton.

2,000 human brains yield clues to how genes raise risk for mental illnesses 
Artificial intelligence model improves prediction six-fold.

Shivom, Lifebit partner on DNA analysis platform for clinical trials
Shivom, the blockchain genomics platform that is powering personalized healthcare, has partnered with Lifebit, the AI-powered DNA-analysis firm, to give users unprecedented reporting capabilities for DNA data analysis.

Autism risk-factors identified in ‘dark matter’ of human genome


Blockchain becomes a ‘source of truth’ for biopharma 
Although blockchain faces regulatory hurdles and skepticism, its potential as a shared, yet secure ledger system to improve the pharmaceutical supply chain integrity and clinical trials is making it attractive for experimentation and investment by drugmakers.


California life science industry soars to new heights
Sara Radcliff discusses (Mendelspod podcast) a new report that details the life science sectors with California showing strong growth coming from new digital health companies. That emerging digital health sector statewide is projected to attract $3.9 billion in VC investment in 2018 which represents nearly half of all projected life science VC investment for the year.

Scientists develop 10-minute universal cancer test
Inexpensive procedure shows whether patient has cancerous cells in the body, but does not reveal where or how serious it is with 90% sensitivity.

Walgreens teams up with Alphabet’s Verily to tackle chronic disease
The new alliance will make Walgreens the “first-choice” for retail commercialization of Verily products. The partnership is meant to allow for efficient scaling of innovative healthcare solutions across Walgreens widespread geographic footprint.

Can China’s R&D sector shake its reputational issues in 2019?

Most Popular Science Stories of 2018


China backs bold plan to tear down journal paywalls
Officials pledge support for European-led ‘Plan S’ to make research papers immediately free to read — but it’s unclear whether China will adopt all the plan’s policies.

PLOS authors say “Yes” to preprints

The genomic and proteomic landscape of the rumen microbiome revealed by comprehensive genome-resolved metagenomics

Chan Zuckerberg Initiative 2nd annual letter

Guiding interoperable electronic health records through patient-sharing networks

Researchers may have found the holy grail of early cancer detection

Better mouse model built to enable precision-medicine research for Alzheimer’s

Machine learning helps to hunt down the cause of a paralysing illness

Open-access journal editors resign after alleged pressure to publish mediocre papers

300 blind mice uncover genetic causes of eye disease

Direct capture of CRISPR guides enables scalable, multiplexed, and multi-omic Perturb-seq

Long-read sequence and assembly of segmental duplications

Multi-omics characterization of interaction-mediated control of human protein abundance levels

Baby gene edits could affect a range of traits
Gene targeted for its role in HIV is linked to increased severity of other infectious diseases — and has implications for learning in mice.

Mergers/ Partnerships & Acquisitions

10x Genomics acquires Spatial Transcriptomics

Ka-ching! Gilead Ends Year With Two Major Deals That Could Total More Than $3.125 Billion

WuXi Biologics and Oxford BioTherapeutics Expand Partnership With 5 More Antibody Compounds


Legendary biotech VC Steven Burrill sentenced to 2.5 years for fraud

Bay Area seeing rush of research, investment in human longevity
More than $4 billion has been invested in the top 30 longevity companies since 2007, with amounts that have sharply risen in the last four years, hitting about $1.3 billion in 2018.

Diagnostics unicorn Grail considering an IPO in the US, possibly next in 2019

PetaGene closes $2.1M financing round for its data compression technology

Mission Bio raises $30M in Series B financing for its single-cell genomics platform

News for the month of November 2018

November was a ground-breaking month! He Jiankui of the Southern University of Science and Technology (SUST), in Shenzhen made the controversial announcement that his team has used CRISPR to create twin girls whose genes were edited to make them resistant to HIV. He is now facing investigation over whether the experiment broke Chinese laws or regulations. CRISPR pioneer Feng Zhang addressed this news by saying “Not only do I see this as risky, but I am also deeply concerned about the lack of transparency surrounding this trial.” Another big announcement was that of Illumina’s plans to acquire Pacific Biosciences for approximately $1.2 billion to expand its long-read sequencing offerings. This year’s Black Friday brought unprecedented deals on DTC sequencing. Veritas Genetics temporarily lowered its whole genome sequencing and interpretation service to just $199 for 1,000 people.

Precision Medicine

Startup offers to sequence your genome free of charge, then let you profit from it
Nebula will do a full genome sequence, rather than a snapshot of key gene variants. That wider range of genetic information would make the data more appealing to biologists and biotech and pharmaceutical companies. See our interview with Nebula’s CEO Kamal Obbad.

Ellen Matloff on a new digital genetic counseling product for DTC customers
A Mendelspod podcast discussion about new digital genetic counseling, privacy with DTC companies, and polygenic risk scores (PRS).

Precision medicine is too complex for EHRs, KLAS says
Respondents to new research indicated that major EHR vendors are not capable of precision medicine work.

Personalis, Inc. Launches ImmunoID NeXT, the first platform providing characterization of a tumor and its microenvironment from a single sample

Data-driven medicine will help people — But can it do so equally?
Technological advances threaten to make a crushingly unequal system even more so.

GDPR in biobanking for precision medicine research: The challenges

Precision medicine will have a transformative effect on clinical trials

Hospitals lagging in using discrete genomics data for clinical decision support


MGI, a subsidiary of BGI Group, introduced its newest model of genetic sequencer, MGISEQ-T7, which vastly improves speed, throughput and flexibility
The sequencing speed increased by over 50% and there MGISEQ-T7 run much faster than any other sequencer to date.

DNAnexus announced the launch of DNAnexus Apollo™
Apollo is a new platform for multi-omics and clinical data science exploration, analysis, and discovery for bioinformaticians and bench scientists.

The next chapter of a long read
An opinion piece by Andrew Carroll about Illumina’s announcement to purchase PacBio.

Now you can sequence your whole genome for just $200
Veritas Genetics offered whole genome sequencing – clinical-grade, 30X WGS and Interpretation – for just $200 for a limited time (two days) or to the first 1,000 people who buy spit kits.

Regulators just gave DNA-testing startup 23andMe the go-ahead to offer a health product that scientists have called dubious
The tests assess which genes are involved in breaking down various medications (including antidepressants and some heart medications) in the body. Versions are being offered by psychiatrists and Albertsons pharmacists in three major cities at a price tag of $750.

The FDA warns against the use of many genetic tests with unapproved claims to predict patient response to specific medications:
The FDA is alerting patients and health care providers that claims for many genetic tests to predict a patient’s response to specific medications have not been reviewed by the FDA, and may not have the scientific or clinical evidence to support this use for most medications.

Widely used reference for the human genome is missing 300 million bits of DNA
Additional reference genomes from different populations are needed for research.

Offering free DNA sequencing, Nebula Genomics opens for business. But there’s an itsy-bitsy catch
Nebula Genomics is giving customers the option of having their full genome sequenced at no cost, a first for direct-to-consumer genetics.

These DNA startups want to put all of you on the blockchain

I got my whole genome sequenced. Here’s what I learned


Microsoft Genomics ventures into the microbiome with Eagle Genomics
This is the first partnership for Microsoft that focuses on the microbiome genomics market.

Pathogen Identification

Bio-Rad wins USDA contract for its pathogen detection testing products
The company has been awarded a contract for iQ-Check real-time PCR pathogen detection test kits and the iQ-Check Prep Automation System from the United States Department of Agriculture’s Food Safety and Inspection Service (USDA FSIS).

Artificial Intelligence

How does Google want to apply artificial intelligence in healthcare?
DeepMind leaders announced that its healthcare team will be combined into Google to help them become the “AI-powered assistant for nurses and doctors everywhere.”

Billions will be poured into AI drug development
The amount of data collected and used for regulatory submission for 400 trials is about 160 Terabytes.

Precision med AI application can predict cellular DNA repair
The machine learning algorithm, which can anticipate how cells respond to CRISPR-induced breaks, could help researchers repair gene mutations.

The new Google Health unit is absorbing health business from DeepMind, Alphabet’s AI research group
DeepMind’s health subsidiary is moving under the newly-formed Google Health led by former Geisinger CEO David Feinberg.

The amazing ways artificial intelligence is transforming genomics and gene editing

Could artificial intelligence make doctors obsolete?

US considers export controls on AI and other new tech


The Chinese scientist who claims he made CRISPR babies is under investigation
He Jiankui claims he created twin girls who had been edited so they were resistant to HIV. Was that ethical? Or even legal?

CRISPR pioneer Feng Zhang responds to report of embryo editing in China
FZ: “Not only do I see this as risky, but I am also deeply concerned about the lack of transparency surrounding this trial. All medical advances, gene editing or otherwise and particularly those that impact vulnerable populations, should be cautiously and thoughtfully tested, discussed openly with patients, physicians, scientists, and other community members, and implemented in an equitable way.”

As human genome editing moves from the lab to the clinic, the ethical debate is no longer hypothetical

CRISPR Researchers Develop Method for Precise, Template-Free Genome Editing

CRISPR-cas9 without donor templates still accomplishes DNA repair

Investigators predict CRISPR-Cas9 gene disruptions with accuracy

Dr He Jiankui’s announces his team has delivered first gene-edited babies on youtube

What we know — and what we don’t — about the claim of world’s first gene-edited babies


Life span has little to do with genes, analysis of large ancestry database shows
Scientists reported that genes accounted for well under 7 percent of people’s life span, versus the 20 to 30 percent of most previous estimates.

China’s biggest online health care services provider plans to build ‘hundreds of thousands’ of its telephone booth-sized, AI-powered clinics and roll these out across the country in three years

Bio-Rad awarded $24M in 10x Genomics patent infringement lawsuit

The cult of DNA-centricity
Looks at the successes and short-comings of the DNA-centric narrative

After five years, Verily shelves project to create glucose-sensing contact lens

China’s crackdown on genetics breaches could deter data sharing

30 under 30 2019: healthcare


How Facebook and Twitter could be the next disruptive force in clinical trials

Organizational principles of 3D genome architecture

Science – special issue: diet and health

The gut microbiota at the intersection of diet and human health

How biologists are creating life-like cells from scratch

Tumor fraction in cell-free DNA as a biomarker in prostate cancer

Converging blockchain and next-generation artificial intelligence technologies to decentralize and accelerate biomedical research and healthcare

Noninvasive prenatal detection of fetal trisomy and single gene disease by shotgun sequencing of placenta originated exosome DNA: a proof-of-concept validation

Mergers/ Partnerships & Acquisitions

Veritas Capital, Elliott clinch $5.7 billion acquisition of Athena health

Illumina to acquire Pacific Biosciences for approximately $1.2 Billion, broadening access to long-read sequencing and accelerating scientific discovery

Merck and Palantir Technologies are forming a joint research venture called Syntropy as a way to offer data analytics tools to healthcare organizations

Genomics Medicine Ireland (GMI) is being acquired (for an undisclosed amount) by WuXi NextCODE and will try to recruit ~10% of the Irish population for whole genome sequencing.
Ireland to sequence 400K genomes with new precision medicine effort.


Investors are pouring cash into AI startups focused on health care
There are cures waiting to be discovered in the ever-growing mountains of medical data.

Comparing this year’s big biotech IPOs to previous years
According to the Wall Street Journal, as of mid-October, 55 biotech companies had raised $5.75 billion.

Illumina Ventures leads €16M series A investment in Stilla Technologies to sell a more precise DNA quantification system

Mount Sinai Invests $200M Into New Precision Medicine Data Science Program

Billionaires Are Making an Impact on Life Sciences With Significant Donations

Life sciences VC investment trends similar to tech, but there are differences

News for the month of October 2018

In October, the NHS’ Health and Social Care Secretary, Matt Hancock, shared its ambitious goal to sequence 5 million genomes in the UK, within five years. Additionally, the NHS will offer whole genome analysis for all seriously ill children with a suspected genetic disorder starting in 2019. The NHS will also offer genome sequencing for all adults suffering from certain rare diseases or hard to treat cancers. Another October highlight was the announcement that Dr. James Allison, together with Dr. Tasuku Honjo, won the Nobel Prize in Medicine for his work in immunotherapy, which has paved the way for a new class of cancer drugs. Wired recently profiled him and his work.

Precision Medicine

Secretary of State for Health and Social Care announces ambition to sequence 5 million genomes within five years
The announcement, made as part of the Secretary of State’s speech to the Conservative Party Conference in Birmingham, recognizes the critical importance of genomic medicine to the future of the NHS.

Vast leukemia dataset could help researchers match therapies to patients
Researchers release new dataset describing hundreds of samples from AML patients. Researchers can learn what drugs may work best for specific subsets of patients.

Amazon and NIH to link biomedical data and researchers
The National Institutes of Health (NIH) today announced the addition of Amazon Web Services (AWS) to its Science and Technology Research Infrastructure for Discovery, Experimentation, and Sustainability (STRIDES) Initiative.

Researchers want cancer patients to share their medical information in search of cures
A new non-profit project from several leading health organizations, called Count Me In, lets cancer patients send their medical information directly to researchers who are searching for cures.

Diagnomics partners with Translational Software to launch pharmacogenetic testing services in the United States

Where wearables fit into the future of precision medicine
Apps and devices will evolve and tools already around us will become instruments of health to advance tailor-made care delivery and treatments.

Epic Systems building dedicated server for sequencing data
Electronic health records giant Epic Systems is adapting to the age of precision medicine by building a dedicated, cloud-based sequence server to store large genomics files.


DNA databases are too white. This man aims to fix that
Carlos D. Bustamante’s hunt for genetic variations between populations should help us better understand and treat disease.

New technique promises more accurate genomes
University of Adelaide researchers have developed a new technique that will aid in a more accurate reconstruction of human genomes by determining the exact sections of the genome that come from each parent.

NHS Genomic Medicine Service launch with the ambition to map 5 million genomes
One million genomes will be sequenced by the NHS and the UK Biobank. Adults with certain rare diseases or hard to treat cancers will be offered whole genome sequencing – an offer to be extended from 2019 to all seriously ill children, including those with suspected genetic disorders and cancer. The aspiration for the NHS Genomic Medicine Service is to sequence five million genomes in the UK within a five year period.

PacBio data release
Highest-quality, most contiguous individual human genome assembly to date released.

Roche launches NGS AVENIO Tumor Tissue Analysis Kits for oncology research
Roche announced the global commercial launch of three new next-generation sequencing (NGS) AVENIO Tumor Tissue Analysis Kits – the AVENIO Tumor Tissue Targeted Kit, Expanded Kit and Surveillance Kit.

Blueprint Genetics expands capabilities in the detection and confirmation of difficult-to-sequence regions
Blueprint Genetics’ production environment involves customized sequencing solutions for difficult-to-sequence genes, designed to maximize detection of clinically relevant variants.

New technique promises more accurate genomes by sequencing families
Researchers at the National Institutes of Health (NIH) and the United States Department of Agriculture (USDA) have developed a new technique that will aid in a more accurate reconstruction of human genomes by determining the sections of the genome that come from each parent.

10x Genomics showcases new solutions at ASHG 2018
Introduces significant advances to its flagship Single Cell Gene Expression Solution.

Matt Hancock announces ambition to map 5 million genomes
The NHS Genomic Medicine Service is the first national genomic healthcare service in the world and will allow faster diagnosis and personalised care.

Building a 3D map of the genome


Meet the carousing, harmonica-playing Texan who just won a Nobel Prize for his cancer breakthrough
Meet James Allison – Nobel prize winner in medicine 2018.

The snub club: Crucial contributors to cancer immunotherapy were excluded from the medicine Nobel
Three is the maximum number of laureates that, – as decreed in 1968 by the Nobel foundation – to win any Nobel prize. Because of that limit, it’s rare that Nobel announcements don’t produce grumblings about who was left out, and this year was no exception. At least three other scientists were major contributors to the basic research that led to cancer immunotherapy.

Gilead and Tango to develop novel immuno-oncology drugs
Gilead Sciences will pay $50 million to Tango Therapeutics as part of a deal to identify novel immuno-oncology drug targets. The companies will jointly work on finding five new targets that help tumor cells stave off an immune attack.

Why does Immunotherapy cost so much?

Pharma/ Companion Dx

Chinese pharma companies continue to shake hands with western partners
The Chinese biopharma market is booming as more and more companies eye breaking into that rich market.

Companies Team up to Accelerate Market Readiness of Drug Development Programs

Genomic/Genetic Testing

Who owns the results of genetic testing?
An interview with Jen King, director of consumer privacy at the Center for Internet and Society at Stanford Law.

‘Everyone will be potentially identifiable’: Booming DNA testing means no identity is hidden on the web
Consumer DNA testing — and the mountain of data it has generated — has become pervasive enough that it’s possible to identify about six of every 10 people in the U.S. who are of European descent, even if they’ve never given a sample. Study finds 60% chance of family links to growing pool of data.

Genetic counseling medicare bill introduced
Certified genetic counselors are not currently recognized by CMS even though genetic counseling is a covered benefit under Medicare. As a result, CGCs cannot be reimbursed for counseling Medicare beneficiaries, which impedes access to these uniquely trained healthcare professionals who attended specialized master’s degree programs in genetic counseling.

Congenica earns major role in supporting world’s first routine national genomic medicine service
Genomics England names Congenica as partner for Clinical Decision Support delivery of the NHS Genomic Medicine Service.

The Results of Your Genetic Test Are Reassuring. But That Can Change
Laboratories frequently “reclassify” genetic mutations. But there is no reliable system for telling patients or doctors that the results of their genetic tests are no longer valid.

DNA tests that cost as much as $750 claim to tell you which antidepressant is best for you, but scientists say they’re not worth the money

Test could predict risk of future heart disease for just £40

Study resolves decades-long mystery about the most commonly mutated gene in cancer

So much genetic testing. So few people to explain it to you.
That deluge of data means that genetic counselors—the specialized medical professionals trained to help patients interpret genetic test results—are in higher demand than ever.


Glyphosate perturbs the gut microbiota of honey bees
Study suggests that bees exposed to glyphosate, the active ingredient in Roundup, have led to an unexplained increase in honey bee colony mortality.

Infant Microbiome Develops in Three Stages

Artificial Intelligence

NVIDIA partners with Scripps to develop digital health AI
They are teaming up to develop genomics processing and analysis tools guided by artificial intelligence (AI). Nvidia data scientists will colocate with Scripps genomics experts and bioinformaticiians to study health care problems “end to end.”

UK AI project aims to boost drug discovery
A £1 million UK project is hoping to use artificial intelligence (AI) to help scientists advance drug discovery.

Your next doctor’s appointment might be with an AI
A new wave of chatbots are replacing physicians and providing frontline medical advice – but are they as good as the real thing?

How big data is changing science
“If you look at any 15-year-old research lab, they’re 90 per cent wet lab,” he says. “And if you go into one, almost all the people are sitting at computers.” Gil McVean, University of Oxford

How do you make doctors trust machines in an AI-driven clinical world

NHS adopts AI app for gestational diabetes


New CRISPR tool opens up more of the genome for editing
Researchers have discovered a Cas9 enzyme that can target almost half of the locations on the genome, significantly widening its potential use.
Read our latest science spotlight about the CRISPR base editors.

As it moves out of the lab, CRISPR brings tough questions into the clinic


Researchers explore a cancer paradox
Healthy cells carry a surprising number of cancer-linked mutations, but they don’t turn into tumors. What’s holding them back?

Repositive launches limited-time free Personal Shopper Service, to connect researchers with difficult-to-source translational cancer models
They are continuing to offer it to biopharma researchers free of charge until 31 December 2018.

The human cell atlas is biologists’ latest grand project
Dubbed the Human Cell Atlas, the project intends to catalog all of the estimated 37 trillion cells that make up a human body.

Sir Greg Winter wins the 2018 Nobel Prize in Chemistry
Sir Greg Winter, of the University of Cambridge, has been jointly awarded the 2018 Nobel Prize in Chemistry, along with Frances Arnold and George Smith, for his pioneering work in using phage display for the directed evolution of antibodies, with the aim of producing new pharmaceuticals.

FDA approves first new flu drug in nearly 20 years
Genentech’s  Xofluza (baloxavir marboxil), a single-dose, oral prescription drug.

LunaDNA seeks approval to issue shares to people who contribute genetic data
LunaDNA, which aims to create a community-owned database of donated genetic/health information for medical research, has filed with securities regulators to issue shares to people who provide their data.
A full human genome nets 300 shares.Three weeks of fitness/nutrition data gets two shares.

A new piece of the Alzheimer’s puzzle
AD susceptibility may hinge not only upon which gene variants are present in a person’s DNA, but also how RNA messages encoded by the affected genes are altered to produce proteins.

BioIT World news and notes from ASHG 2018

Microsoft unveils genomics innovation and new partners

Why white supremacists are chugging milk (and why geneticists are alarmed)

Winner of the 2019 Breakthrough Prize in Life Sciences, Fundamental Physics and Mathematics announced


Dads pass on more than genetics in their sperm
The legacy of a dad’s behavior can even live on in his child if his epigenetic elements enter an embryo.​

Harvard, Brigham and Women’s Hospital seek retraction of 31 articles with falsified data

The UK Biobank resource with deep phenotyping and genomic data

Phenome-wide association studies across large population cohorts support drug target validation

Somatic mutant clones colonize the human esophagus with age

The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomics

Genetic database software as medical devices

Stanford study traces hospital-acquired bloodstream infections to patients own body

Genetic study improves lifespan predictions and scientific understanding of aging

Genomic analyses from non-invasive prenatal testing reveal genetic associations, patterns of viral infections, and Chinese population history

The human gut microbiome in early-onset type 1 diabetes from the TEDDY study

Return of results and data to study participants


Guardant Health CEO on its soaring IPO debut

Amgen invests £50m in UK genetics firm Oxford Nanopore

Synthego reels in $110M to ramp up CRISPR kit capacity
DNA editing on-the-cheap is the promise of Synthego, which just raised $110 million from Peter Thiel and other investors.

Twist Bioscience Joins IPO Craze, Hopes to Secure $86 Million

AI and biotech companies in the east and west invest in combating aging
The longevity and biotechnology industries are focusing on aging in a big way, and it’s beginning to show. Includes a discussion around companies like Insilico, WuXi AppTec, AgeX Therapeutics, and Juvenescence.

News for the month of September 2018

September was a busy month in the precision medicine space. The Broad Institute, Partners LMM, and Color received a joint award to become a Genome Center for the All of Us Research Program. This will allow the All of Us project to generate and share data from a million people to improve human health. Michael Snyder and his Stanford colleagues used an approach that draws on genetic data and patient health records to predict a person’s risk for an often fatal type of cardiovascular disease. Also, a Broad Institute and Harvard study uncovered a new genetic risk factor for developing type 2 diabetes.

Precision Medicine

Broad Institute, Partners LMM, and Color receive joint award to become a Genome Center for the All of Us Research Program
NIH funds three genome centers nationwide to generate and share data from a million people to improve human health.

Baylor’s HGSC named an HIGH All of Us research center
BCM-HGSC as one of three centers responsible for generating clinical grade genomic data for the program.

Researchers can forecast risk of deadly vascular condition, called abdominal aortic aneurysm, or AAA, from genome sequence
By combining genome-sequence information and health records, Stanford scientists have developed a new algorithm that can predict the risk of abdominal aortic aneurysm, and potentially could be used for any number of diseases.
Michael Snyder and his colleagues used an approach that draws on genetic data and patient health records to predict a person’s risk for an often fatal type of cardiovascular disease.

Precision medicine’s promise and progress
A discussion with Aura Biosciences CEO Elisabeth de los Pinos Pont, Illumina Executive Chairman Jay Flatley, and BGI President Wang Jian.

Genomic study brings us closer to precision medicine for type 2 diabetes
Analysis reveals disease’s complexity, suggests potential clinical subtypes defined by genetics and physiology.

Konica Minolta launches dedicated precision medicine business in Japan
For marketing high-end precision medicine tools and diagnostic services in Japan, starting operations on October 1.

Vertex, Genomics Team Up in Quest for Genetics-based, Precision Medicines


NHS announces new Genomic Medicine Service
The UK Agency said the goal is to provide access to genetic testing to drive personalized treatments and enable interventions for the whole country.

Why your DNA is still uncharted territory
Scientists are focusing on a relatively small number of human genes and neglecting thousands of others. The reasons have more to do with professional survival than genetics.

Only a tenth of the human genome is studied
Paying more attention to the rest seems like a good idea

Nanopore Sequencing Becomes More Portable to Enable Outbreak Surveillance in Field

Quantapore Working Towards Commercialization of Optical Nanopore Sequencing Tech

How Digital Data Management Is Transforming Next-Generation Sequencing


FDA alters approved use of two checkpoint inhibitors for bladder cancer
The FDA announced that it was changing the prescribing label for pembrolizumab (Keytruda) and atezolizumab (Tecentriq). They should be used as an initial, or first-line, treatment in only those people with metastatic bladder cancer who can’t receive cisplatin-based chemotherapy and whose tumors have high levels of PD-L1. The assessment of PD-L1 levels must be made using an FDA-cleared test.

Immunotherapy offers a promising bet against brain cancer
Could the latest immunotherapies succeed in tackling the deadliest form of brain cancer?

Encouraging progress in immunotherapy for breast cancer
New trial may lead to first FDA approval in this realm.

Engineered cell therapy given initial ‘no’ for aggressive adult lymphoma on NHS in England

First ever HIV immunotherapy drug proves safe in phase 1 trial – paving the way to a cure

Revealing a new way that cancer can evade immunotherapy — and, maybe, how to stop it

Pharma/ Drug Discovery/ Companion Dx

Hospitals are fed up with drug companies, so they’re starting their own
A group of major American hospitals, battered by price spikes on old drugs and long-lasting shortages of critical medicines, has launched a mission-driven, not-for-profit generic drug company, Civica Rx, to take some control over the drug supply.

Repositive is offering its Cancer Models Personal Shopper Service FREE to commercial scientists working in translational oncology throughout Q4 2018
Repositive temporarily provides its new offering that streamlines collaborations between researchers & CROs for free.

FDA proposes stiff fines for pharmaceutical companies and CROs that fail to post clinical trial results online
The proposed guidance comes on the heels of a recent BMJ paper that said 49% of clinical trials on the European Register haven’t reported results. A 2015 study in the U.S. found that about 20% of industry trials didn’t report results when they were required to, and about 50% of NIH-sponsored research went unreported.

New pioneering type 2 diabetes research centre opens
The aim of the Novo Nordisk Research Centre Oxford (NNRCO) is to pursue innovative medicines to help treat and prevent type 2 diabetes while also helping to train the next generation of researchers.

Genomic/Genetic Testing

23andMe underscores that privacy-loving customers need to opt out of its data deal with GlaxoSmithKline
Anne Wojcicki answered a series of questions about 23andMe’s pact with pharma giant GSK at Disrupt SF.

Bill Gates how blood will soon tell us everything

Your DNA Is Not Your Culture
A Spotify playlist tailored to your DNA is the latest example of brands cashing in on people’s search for identity.


Researchers explore how changes in diet alter the microbiome in artificialintestine


Blockchain genomics startup wants to make you money with your DNA
London-based blockchain startup Genomes.io is on a mission to protect and productize DNA.
Also, read the interview with CEO Kamal Obbad of Nebula Genomics, a human genome sequencing and health big data company on a mission to usher in the era of genomic sequencing by building a large and trusted genomic and health data marketplace for consumers, researchers and the medical community.

Artificial Intelligence

A plan to advance AI by exploring the minds of children
Cognitive science and neuroscience could inspire the next big innovations in artificial intelligence, says the head of an ambitious new MIT-led research project.

Expert insight: How AI and advanced analytics could change the healthcare game
Debate is rife over the impact that artificial intelligence (AI) and machine learning will have on many spheres of life – and nowhere more so than in healthcare.

What happens when an algorithm labels you as mentally ill?
A series of emojis, words, actions or even inactions can communicate how you feel at a given moment and when collected over time, comprise your “socionome” — a digital catalog of your mental health that is similar to how your genome can provide a picture of your physical health.

An AI pioneer, and the researcher bringing humanity to AI

Google AI tool identifies a tumor’s mutations from an image

Artificial intelligence to improve drug combination design & personalized medicine

Health AI market predicted to ramp up significantly within next four years

7 amazing ways artificial intelligence is used in healthcare


Pivotal CRISPR patent battle won by Broad Institute
Team from the University of California, Berkeley, loses appeal over coveted gene-editing technology.

These Companies Want to Combine Stem Cells and CRISPR Gene Editing to Treat Diabetes

Health Brain Cancer’s ‘Immortality Switch’ Turned Off with CRISPR


Theranos, blood-testing company plagued by scandal, says it will dissolve
Because the Company’s cash is not nearly sufficient to pay all of its creditors in full, there will be no distributions to shareholders. After the assignment process, the company intends to dissolve. Most of the company’s remaining employees last day was Aug. 31.

Why so many data scientists are leaving their jobs
Expectation does not match reality. “Big data is like teenage sex: everyone talks about it, nobody really knows how to do it, everyone thinks everyone else is doing it, so everyone claims they are doing it.”

Radical open-access plan could spell end to journal subscriptions
Eleven research funders in Europe announce ‘Plan S’ to make all scientific works free to read as soon as they are published.

New research may answer why many recent Alzheimer’s clinical trials have failed
A new study could help explain this string of drug failures, discovering that when a synapse in the brain is destroyed by beta-amyloid it triggers nearby nerve cells to produce more beta-amyloid. This sets off a feedback loop that drives further neurodegeneration.

No more first authors, no more last authors
If we really want transdisciplinary research, we must ditch the ordered listing of authors that stalls collaborative science, says Gretchen L. Kiser.

Thousands of scientists publish a paper every five days

The surprises of starting as a new PI

NIH will approve an Early Stage Investigator (ESI) extension of one year for childbirth within the ESI period. A move that will help retain talented young investigators


New clues found to understanding relapse in breast cancer – Tumor mutations found in patients point to progressive disease
A large genomic analysis has linked certain DNA mutations to a high risk of relapse in estrogen receptor positive breast cancer, while other mutations were associated with better outcomes, according to researchers from Washington University School of Medicine in St. Louis, the Baylor College of Medicine and the University of British Columbia.

Genomic study brings us closer to precision medicine for type 2 diabetes
PLOS Medicine published analysis reveals disease’s complexity, suggests potential clinical subtypes defined by genetics and physiology.

Prevalence of Variant Reclassification Following Hereditary Cancer Genetic Testing
This study provides an estimate of the likelihood of variant reclassification following hereditary cancer genetic testing, but replication is required using other data sources.

Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative

Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

Fatal Toxic Effects Associated With Immune Checkpoint Inhibitors

Population dynamics of normal human blood inferred from somatic mutations

Experimental and computational framework for a dynamic protein atlas of human cell division

Functional profiling of circulating tumor cells with an integrated vortex capture and single-cell protease activity assay

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

Development and Validation of Deep Learning–based Automatic Detection Algorithm for Malignant Pulmonary Nodules on Chest Radiographs
AI algorithm outperformed board-certified radiologists for accurately detecting chest X-ray cancerous lung nodules

Individual variations in cardiovascular-disease-related protein levels are driven by genetics and gut microbiome

Mergers and Acquisitions

Agilent acquires cell analysis tools developer ACEA Biosciences for $250 million in cash. The deal expands Agilent’s offerings and presence in cell analysis technologies.

Brooks Automation announces the acquisition of GENEWIZ Group


uBiome is jumping into therapeutics with a healthy $83 million in Series C financing
To support its new drug discovery efforts, the San Francisco-based startup will be moving its therapeutics unit into new Cambridge, Massachusetts headquarters and appointing former Novartis CEO Joseph Jimenez to the board of directors as well.

NIH funds $54M project to build detailed map of cells within human body

State of California funds $2M whole-genome sequencing pilot for sick newborns at Rady Children’s Hospital

With CIRPSR’s Help, KSQ Touts 13 Cancer Drugs and Bags Another $80M in Series C

VCs say the Silicon Valley isn’t the gold mine it used to be

Digital Healthcare Firm Maven Raises $27 Million In Series B Funding

PharmEasy Raises $50 Mn Series C Funding

News for the month of August 2018

August brought news in the genetic testing sector: Broad Institute and Harvard University researchers unveiled a sophisticated new algorithm that forecasts an individual’s risks for five deadly diseases, Chinese scientists corrected a mutation that causes Marfan syndrome by applying the CRISPR technology, and investments are never ending as demonstrated with Tempus receiving $110M in series E. All these while discussions continued about the value of genetics/genomics data following the July announcement of GSK investing $300M in 23andMe to get access to their genetic database as well as the rise of companies that want to make the value of genomic sequencing a reality which includes Nebula Genomics.

Precision Medicine

Three huge ways tech is overhauling healthcare
This post discusses how converging exponential technologies are enabling personalized medicine, delocalized (“everywhere”) care, and the new era of intelligent prevention.

Ovarian cancer genetics unravelled
This study, which involved ovarian cancer samples from over 500, looks for broad patterns in the genetic readouts from ovarian cancer cells.

Taking a wider view of precision oncology
The debate on precision oncology was on full display at this year’s American Society of Clinical Oncology meetings, pitting a proponent and a skeptic: Drs. Jeremy Warner and Vinay Prasad, respectively.

New 3D printing project aims to bring relief to arthritis sufferers
Irish researchers looking to create personalized 3D-printed biological implants

Personalized Medicine: A Culmination Of Everything The Digital Economy Has To Offer

Precision Medicine Researchers Identify New Alzheimer’s Genes
Boston University researchers have discovered new genes that may be responsible for Alzheimer’s development, leading to a potential precision medicine breakthrough.

Lifestyle change as precision medicine


Who will be the Google of genomics?
The first company that will offer genome sequencing for free will be able to create the most valuable advertising engine in the world. This article discusses second-generation (2G) DNA testing companies – Luna DNA, Nebula Genomics, and EncryptGen – that are starting to radically change all this.

Together, big data, bench science and genome-wide diagnostics predict genomic instability that can lead to disease
Discusses the details of the AluAluCNVpredictor, a web-based tool that allows researchers to predict the risk of Alu/Alu-mediated rearrangements for the genes of their interest.

Applications of Next Generation Sequencing Outside of Healthcare
The NGS industry is still young. As more companies develop their own systems, we’re now seeing new applications emerge for the technology. A wide variety of businesses are thinking outside the box of human or animal genome analysis.

OmniTier’s CompStor Brings De Novo Analytics To Genomics


Europe deals a blow to CRISPR technology – should be regulated as genetic engineering – while the U.S. Approves ‘Bleeding’ Impossible Burger
Both the U.S. and the European Food and Drug Administration approved the Impossible Burger while Europe’s highest court ruled gene-edited crops should be subject to the same strict regulations the continent uses for genetically modified (GM) organisms. A major setback for advocates of genetically engineered crops.

With embryo base editing, China gets another CRISPR first
In the study published in Molecular Therapy, Chinese scientists corrected a mutation that causes Marfan syndrome, an incurable connective tissue disorder that affects about 1 in 5,000 people.

Using CRISPR for the ‘smaller wins,’ like making chemotherapy less toxic

Pharma/Drug Discovery/Companion Dx

Novogene receives CFDA approval for NovoFocus NSCLC CDx test
The NGS-based diagnostic test simultaneously analyzes tumor samples for multiple genomic mutations associated with several CFDA-approved targeted therapies for non-small cell lung cancer (NSCLC), which accounts for ~80% of all lung cancers in China.

23andMe’s pharma deals have been the plan all along
23andMe, with its hybrid model, has been commodifying health and genetic data for years as it wades further into the field of drug discovery.

Genomic/Genetic Testing

DNA ancestry tests may look cheap. But your data is the price.
Discusses how companies like 23andMe profit by amassing huge biological datasets.

PapGene, Inc. receives FDA breakthrough device designation for liquid biopsy test that detects multiple cancers from a simple blood draw 
The FDA granted Breakthrough Designation based on the test’s ability to detect both ovarian and pancreatic cancer, advancing the FDA’s goal to help give patients timely access to medical devices that provide more effective treatment or diagnosis for life-threatening or irreversibly debilitating diseases or conditions by expediting their development, assessment, and review.

How scientists are learning to predict your future with your genes 
When the Human Genome Project — the massive endeavor to map all the genes that make humans human — was completed in 2003, scientists were elated. It did not quite yet work out that way.

Clues to your health are hidden at 6.6 million spots in your DNA 
With a sophisticated new algorithm, scientists have found a way to forecast an individual’s risks for five deadly diseases. A New York Times article by Gina Kolata.

FDA details vision for regulating in vitro clinical tests to legislators

4 Risks consumers need to know about DNA testing kit results and buying life insurance

Natera and Fox Chase Cancer Center partner to assess customized circulating tumor DNA assay

Genetic Technologies Announces Proposed Joint Venture with Beijing Zishan Health Consultancy Limited

A Harvard Scientist Thinks He Has a Gene Test for Heart Attack Risk. He Wants to Give It Away Free


Will blockchain transform healthcare?
In recent months, there has been a flurry of excitement about the role that blockchain technology might play in the long-term transformation of U.S. healthcare.

Artificial Intelligence/Machine Learning

New AI system sniffs out missed tumors in cancer patients
Computer science engineers created a new artificial intelligence system with 95 percent accuracy in spotting tiny often missed cancerous tumors.

Machine learning improves searches in world’s largest biomedical literature database

The promise and perils of AI medical care

Artificial Intelligence Will Serve Humans, Not Enslave Them

AI could make MRI scans as much as 10 times faster

Black Box, White Coat: Rise Of The Machines In Medicine


Microbiome medicine takes center stage
Personalized medicine isn’t all about our DNA. Researchers are increasingly looking past the information encoded on our genes to find answers to how individual variation contributes to complex disease; epigenomics, transcriptomics and proteomics are proving their worth in the lab and clinic.

Tongue microbiome research underscores importance of dental health


NIH begins clinical trial of live, attenuated Zika vaccine
The trial will enroll a total of 28 healthy, non-pregnant adults ages 18 to 50 at the Johns Hopkins Bloomberg School of Public Health Center for Immunization Research in Baltimore, Maryland, and at the Vaccine Testing Center at the Larner College of Medicine at the University of Vermont in Burlington. NIAID is sponsoring the trial.

Innovation and collaboration: key catalysts for scientific break-throughs
An article by Fiona Nielsen CEO Repositive: “Why restricted data access & an industry-wide aversion to collaboration is delaying and/or preventing the discovery of treatments and cures for cancer.”

From Durham, the future of clinical research looks a lot like implementation science 
David Shaywitz discusses clinical research implementation at the Duke Clinical Research Institute (DCRI) in Durham, North Carolina. “It’s productive, successful, and has been training great clinical scientists.”

Gene-silencing technology gets first drug approval after 20-year wait 
The US Food and Drug Administration’s decision breathes new life into RNA-interference therapies.

37 startups building voice applications for healthcare
It is predicted that 50% of searches will be voice-based by 2020 and that 55% of US households will have a smart speaker by 2022. As a result entrepreneurs, developers, product managers, and marketers are rushing to figure out how they can capture the upcoming surge of voice-based technology.

On Being a Geneticist

Direct-to-consumer genetic testing is booming, but ethical concerns remain


Boosting cancer immunotherapy by switching off a protein

Estimation of the percentage of US patients with cancer who benefit from genome-driven oncology

Consumer genomics will change your life, whether you get tested or not 

A model for genome-first care: returning secondary genomic findings to participants and their healthcare providers in a large research cohort 

CRISPR-Cas guides the future of genetic engineering

Machine learning improves searches in world’s largest biomedical literature database

This Kind of RNA Could Contribute to Fatty Liver

Association of Broad-Based Genomic Sequencing With Survival Among Patients With Advanced Non–Small Cell Lung Cancer in the Community Oncology Setting

Co-regulatory networks of human serum proteins link genetics to disease

Daring to hope
How manipulating the genome offers some hope in rare diseases

How AI can be a force for good

Automated deep-neural-network surveillance of cranial images for acute neurologic events

The future of humans as model organisms

Circulating tumor DNA, liquid biopsy, and next generation sequencing: A comprehensive technical and clinical applications review

Diverse genome study upends understanding of how language evolved

A brief history of bioinformatics

Mergers and Acquisitions

SoftBank-backed 10x Genomics makes a clever buy to help unlock the human biological code
10x Genomics is making its first acquistion with startup Epigenomics.


Tempus just got $110M in series E and a $2B valuation
Tempus received $320 million throughout its life.

Boston-area startups are on pace to overtake NYC venture totals
Boston has regained its longstanding place as the second-largest U.S. startup funding hub.

HealthMyne raises $15 in series B to expand commercialization efforts of QIDS platform

Bionano Genomics raises $20.6M in IPO, starts trading on Nasdaq

Nebula Genomics raises $4.3M seed financing from leading tech and biotech VCs.

Gates Foundation’s $100M-a-year nonprofit biotech takes flight

A new foreign investment bill will impact venture capital and the US startup ecosystem

News for the month of July 2018

In July, the National Health Service (NHS) in the United Kingdom announced that beginning on October 1st new cancer patients will have their tumors screened for key mutations. This makes NHS the first health service in the world to routinely offer genomic medicine which is predicted to transform NHS patient care in the years to come. With the rapid advancement of precision medicine, questions are arising on how to best educate the public which generally lacks sufficient understanding of personalized medicine as demonstrated in a new survey. Additionally, doctors are stressing the need to prioritize actionability of unsolicited genomic results.(UGRs) and the need for clear, evidence-based paths coupled with clinical decision support to deal with receiving UGRs.

Precision Medicine

In July, the National Health Service (NHS) in the United Kingdom announced that beginning on October 1st new cancer patients will have their tumors screened for key mutations. This makes NHS the first health service in the world to routinely offer genomic medicine which is predicted to transform NHS patient care in the years to come. With the rapid advancement of precision medicine, questions are arising on how to best educate the public which generally lacks sufficient understanding of personalized medicine as demonstrated in a new survey. Additionally, doctors are stressing the need to prioritize actionability of unsolicited genomic results.(UGRs) and the need for clear, evidence-based paths coupled with clinical decision support to deal with receiving UGRs.

DNA tests predicted to transform next 70 years of NHS
Patients in Scotland are set to benefit from a revolution in personalised healthcare, thanks to major investments in gene sequencing technology.

Should biobanking come under CLIA? 
A Mendelspod podcast with Shannon McCall, Pathologist, Director of the Precision Cancer Medicine Initiative at the Biorepository and Precision Pathology Center, Duke University.

Riseof the knowledge network
A keynote presentation by India Hook-Barnard, Director of Research Strategy at the University of California San Francisco, gives a high-level look at how knowledge networks work and how healthcare can leverage them for better analytics and for advancing precision medicine.

New survey shows general public lacks understanding of personalized medicine 
New survey of 1,001 Americans from the Personalized Medicine Coalition (PMC) and GenomeWeb shows that the majority of respondents are not familiar with the concept of personalized medicine. This lack of familiarity persists despite the fact that precision medicine accounted for more than 20% of new drugs approved by the FDA in 2017, the fourth straight year for this trend.

Routine DNA tests will put NHS at the ‘forefront of medicine’ 
People in England will have access to DNA tests on an unprecedented scale from the autumn when the NHS becomes the first health service in the world to routinely offer genomic medicine.

Ex-Apple Health director is now working to fix medical records 
Anil Sethi is the founder of Ciitizen, an early-stage start-up that’s focused on helping people with cancer access their data.

How genomics is dramatically changing the future of medicine
Sequencing or Array Testing for Genetic Diseases?

A recent post by Dan Kobolt on KidsGenomics which was established in February 2018.

Precision Medicine Success Hinges On Diagnostics’ Clinical Utility

Precision medicine: We know there’s a market, but who are the top vendors?


OrigiMed collaborates with Illumina to further develop and promote its advanced clinical molecular tumor spplications
OrigiMed will develop and promote its advanced molecular clinical tumor applications to the public based on Illumina’s Next Generation Sequencing (NGS) technology.

Dante Labs launches Whole GenomeZ, a new whole genome sequencing technology for advanced diagnostics
Whole GenomeZ leverages next-generation sequencing techniques to provide 130X coverage to the entire exome and 30X coverage to the rest of the genome.

Dante Labs offers $349 whole genome sequencing on Amazon Prime Day
Dante Labs offers whole genome sequencing (WGS) and interpretation at only USD 349 (€299). This offer marks a further price reduction compared to Prime Day 2017, and marks another “first” in the worldwide reduction of the cost of whole genome sequencing.

Liquid Biopsy Controversy Rages On

Massive study on the genetics of educational attainment

Illumina Releases Open Source AI Software


CRISPR makes cancer cells turncoats that attack their tumor
In a study four years in the making, scientists reported on Wednesday that “rehoming” cells that had been CRISPR’d to attack cells in the original tumor improved survival in lab mice with brain cancer, as well as in mice with breast cancer that spread to the brain.

With this startup’s help, gene-editing tech will soon be everywhere 
Synthego is shipping modified cells directly to scientists so they can focus on developing cures.

CRISPR DNA editing may cause serious genetic damage, researchers warn 
A new study finds that the CRISPR technology can cause damage hundreds of times what was previously observed.

Gene editing is GM, says European Court 
The European Court of Justice has ruled that altering living things using the relatively new technique of genome editing counts as genetic engineering.

Reinventing Gene Editing in T-cells to Fight Cancer
Using CRISPR, PICI scientists create faster, more precise way of engineering cancer-fighting T cells – without the use of expensive viruses

CRISPR gene editing produces unwanted DNA deletions

CRISPR–Cas9 genome editing in human cells occurs via the Fanconi anemia pathway

Pharma/ Drug Discovery/ Companion Dx

23andMe Is sharing its 5 million clients’ genetic data with drug giant GlaxoSmithKline
During the 4-year collaboration GSK will use 23andMe’s database to gather insights and to discover novel drug targets driving disease progression and develop therapies. GSK is investing $300 million in 23andMe.

Statement by FDA Commissioner Scott Gottlieb, M.D., on formation of a new drug shortages task force and FDA’s efforts to advance long-term solutions to prevent shortages
The FDA has been providing updates and information about the FDA’s efforts to prevent or mitigate drug shortages.

Novartis Becomes the Latest Pharma Company to Give Up on Antibiotics Research
Much like climate change, the growing emergence of antibiotic-resistant bacterial superbugs is a ticking time bomb that threatens our very way of life. It’s also a very expensive problem to tackle, and Big Pharma has struggled to find any promising solutions. Another major pharmaceutical—the Swiss-based Novartis—announced it is dropping out of the antibiotics game.

The day has come: Merck’s Keytruda surpasses Bristol-Myers Squibb’s Opdivo in Q2 sales
Merck & Co.’s blockbuster cancer drug Keytruda has delivered again in the second quarter, and this time, it has seized the PD-1/L1 crown from Bristol-Myers Squibb’s archrival Opdivo.

Genomic/Genetic Testing

Why consistent testing methods are crucial for liquid biopsies
A new study helps set standards for RNA sequencing, improving standard practice and laying the foundation to move the field forward.


3 blockchain startups and 1 big move to patient data ownership
The three companies include Nebula Genomics, Luna DNA, and Coral Health.

Artificial Intelligence

The pendulum of progress
Will artificial intelligence revolutionize medicine or amplify its deepest problems?

The Next Industrial Revolution Is Rising In Japan


CAR T-cell therapy ‘quite promising’ for glioblastoma
Chimeric antigen receptor T-cell therapy may overcome some of the obstacles associated with systemic therapy for patients with glioblastoma, according to a review published in Neuro-Oncology.

Experimental treatment uses modified stem cells to fight cancer

Dana-Farber Cancer Institute updates their guidelines on who should be treated with Immunotherapy?

Can immunotherapy succeed in glioblastoma?
A research update on efforts to use the immune system to treat brain cancer


The bacteria babies need
A strain of bacteria called B.infantis that is thought to have been the dominant bacterium in the infant gut for all of human history is disappearing from the Western world. A New York Times Opinion piece by Kristin Lawless.

Meta-analysis of human genome-microbiome association studies: the MiBioGen consortium initiative


Qiagen accused in suit of trade-secret theft, infringement
Qiagen stole trade secrets, infringed a patent, and engaged in deceptive trade practices to make products that compete with those of ArcherDX, the closely held genetic-sequencing company said in a lawsuit.
Archer is seeking, among other remedies, damages and all Qiagen profits derived from its unlawful conduct and court orders blocking sales of QIAseq Kits and the use of Archer trade secrets, according to a complaint filed July 11 in federal court in Wilmington, Del.

Trump slashes funding that helps people sign up for Obamacare
The Centers for Medicare & Medicaid Services announced Tuesday that it would provide only $10 million for the navigator program for this fall’s open enrollment season. The move is the latest effort by the Trump administration to undermine the Affordable Care Act.

Women bear Alzheimer’s burden; researchers are trying to discover why
Researchers are exploring biological and social differences that might explain why more women than men develop Alzheimer’s and other types of dementia.

ASHG honors Mary-Claire King with ASHG Advocacy Award

Human Longevity accuses J. Craig Venter of stealing secrets
Human Longevity (HLI) has accused its co-founder and former CEO, J. Craig Venter, of sharing secrets and using them to try to set up a competing business. It also accuses him of trying to poach Human Longevity’s employees, customers, and investors, despite having signed an agreement that he would not do so.

The hackers teaching old DNA sequencers new tricks
Outdated genome-sequencing machines need not die — researchers can repurpose them to drive next-generation biochemistry studies.

You Don’t Understand Long Noncoding RNAs

Dads Pass On More Than Genetics in Their Sperm


A parallel universe of clinical trials

DNA-induced liquid phase condensation of cGAS activates innate immune signaling

Researchers reveal massive genome chaos in breast cancer
A team, led by  Michael C. Schatz and W. Richard McCombie of Cold Spring Harbor Laboratory, published a detailed map in Genome Research revealing about 20,000 structural variations, few of which have ever been noted due to technological limitations on a long-popular method of genome sequencing.

Genome doubling shapes the evolution and prognosis of advanced cancers

Physicians’ perspectives on receiving unsolicited genomic results (UGRs)
Twenty-five physicians addressed UGRs and (1) perceived need for actionability, (2) impact on patients, (3) health care workflow, (4) return of results process, and (5) responsibility for results.

Mapping the Genetic Landscape of Human Cells

Predicting the clinical impact of human mutation with deep neural networks

Modeling chemotherapy-induced stress to identify rational combination therapies in the DNA damage response pathway

The Mysterious ‘Jumping Gene’ That Appears 500,000 Times in Human DNA
Its segments make up 17 percent of our genome, but scientists are only just starting to understand what it does.

Ancient dreams of intelligent machines: 3,000 years of robots
Stephen Cave and Kanta Dihal revisit the extraordinary history of cultural responses to automata


Mitra RxDx raises $40M in Financing

AI healthcare company Lunit raises $15 Million in series B funding round

Verge Genomics raises $32M ins series A to lead artificial intelligence-driven drug discovery

NewStem raises $4M in seed funding

Alphabet’s Verily is spinning out another joint venture, this time with ResMed, to help people with undiagnosed and untreated sleep apnea.
Both companies are investing an undisclosed amount in the as-yet-unnamed venture, and is focused on sleep apnea and other sleep breathing disorders.

Cannabis Testing Company PathogenDx Raises $3.4 Million

GenePlanet Closes a 10M Euro Equity Deal to Expand Its Business to Asia and to Further Develop Its Health Intelligence Platform

SoftBank-Backed Cancer Detector Guardant Said to Weigh U.S. IPO

News for the month of June 2018

There were lots of corporate announcements this June. Invitae shared news that it will expand its reproductive health offering with the launch of comprehensive genetic carrier screening. Roche is set to acquire Foundation Medicine for $2.4bn, Bluebee achieved ISO 13485 medical device quality standard certification, and Helix closed its $200M Series B funding round. Additionally, Ginkgo Bioworks raised $429 million, including from Cascade Investment, the asset management firm of Bill Gates.


Lexogen and Bluebee collaborate to streamline Quantseq-UMI sequencing data analysis pipeline
The new data analysis pipeline will be made available on the Bluebee genomics analysis platform.

Bluebee achieves ISO 13485 medical device quality standard certification
ISO 13485 is an internationally recognized medical device quality management systems standard, which was awarded to Bluebee for its design and development of software solutions and data processing algorithms intended for use in diagnostics and clinical reporting.

Intermountain Precision Genomics now accepting DNA sequencing project proposals with matching funds up to $100,000
Intermountain Precision Genomics announces a “Call for Proposals” for creative and innovative translational research projects. The application deadline is August 1,2018 with funded projects announced by September 15, 2018.

QIAGEN announces broadening of GeneReader NGS System applications into hereditary disease analysis

With great genomic data comes great responsibility
Big data is both an asset and a challenge. The more patients’ genomes there are in a data set, the greater the potential of that data set to yield accurate insights into human disease and health, and the greater the importance of holding and using the data in a responsible way.

Interpace Diagnostics Announces Coverage of Thyroid Testing by Blue Cross Blue Shield of Florida
Interpace’s ThyGenX® and ThyraMIR® assays are now covered for thyroid modules deemed indeterminate by standard cytopathology analysis for Florida Blue’s more than three million members.

New human gene tally reignites debate
Some fifteen years after the human genome was sequenced, researchers still can’t agree on how many genes it contains.

DNAstack and Autism Speaks® Announce Collaboration to Accelerate Scientific Discovery on One of the World’s Largest Autism Genome Databases
Through this collaboration, DNAstack will organize one of the largest collections of autism genomes in the world, making them more accessible and analyzable, accelerating the pace at which researchers can use the resource to make discoveries.

Rapid genome sequencing could revolutionize health care for acutely ill babies

Genomic/Genetic Testing

GRAIL announces data on detection of early-stage lung cancers
In a sub-analysis of the first pre-planned sub-study of CCGA, blood samples from 127 participants with lung cancer were evaluated with three prototype genome-sequencing assays. Detection rates (sensitivity at 98% specificity) across the assays ranged from 38 -53% in participants with early-stage lung cancer (stages I-IIIA), and 87 – 89% in those with later stages (stages IIIB-IV).

The FDA slacks regulations on genetic health risk tests
Some regulatory hurdles for makers of direct-to-consumer genetic health risk test have been lifted, according to a notice published by the US Food and Drug Administration.

This nation faces a DNA dilemma: Whether to notify people carrying cancer genes
Since the late 1990s, tens of thousands of Icelanders have agreed to contribute their DNA to public-private science projects aimed at delivering medical breakthroughs. But in contributing their DNA — and in many cases, their medical records — these people never explicitly consented to be notified of personal health risks that scientists might discover.
Icelandic regulators have determined that without that explicit consent, neither the government nor private industry can notify people of these risks.

Invitae expands reproductive health offering with launch of comprehensive genetic carrier screening
The test is designed to provide affordable, accessible information on genetic changes that pose a risk for parents of having a child with an inherited genetic disorder.

NanoString Announces Collaboration with National Cancer Institute to Improve Cancer Immunotherapy Biomarker Discovery
The collaboration supports NCI/CTEP efforts to implement novel strategies to correlate therapeutic treatment with patient response across a range of tumor types by incorporating the PanCancer IO 360TM Gene Expression Panel into select active and future NCI-sponsored clinical trials.

Consumer Genetic Testing Is Booming: But What are the Benefits and Harms to Individuals and Populations?

One of America’s Biggest Genetic Testing Companies Refuses to Share Data That Could Save Countless Lives
Many companies contribute to open databases – but not Myriad Genetics

Biotech Firm Grail Takes The First Steps In Its Quest For A Blood Test For Cancer

Artificial Intelligence

Insurers turn to artificial intelligence in war on fraud
Machine learning is helping the insurance industry flag suspicious claims–and even crawl through social media accounts to find fraud.

London Touts Itself as The AI Capital of Europe
Khan’s AI report was pulled together by CognitionX, a London-based AI advice service. The report found that investment into “AI companies” in London had exceeded £200 million in 2017, a year-on-year increase of more than 50%.

Bias detectives: the researchers striving to make algorithms fair
As machine learning infiltrates society, scientists are trying to help ward off injustice.

The top 5 startups disrupting healthcare using AI, digital therapeutics, health insurance, and genomics
Freenome, Genoox, Helix, Karius, and Verge Genomics

Precision Medicine

Nightingale Health and UK Biobank announces major initiative to analyse half a million blood samples to facilitate global medical research
Nightingale Health, a Finnish biomarker technology-based company, will analyse the biomarker profiles of 500,000 blood samples from UK Biobank.

Intermountain Healthcare brings awareness of precision medicine to the public through clinical implementation
The online survey asked 1,001 adults representative of the U.S. population various questions about their awareness on the topic. The results showed a lack of education on what genomics is and what it can do for their personal care.

WCG (WIRB-Copernicus Group) Clinical Services Division partners with InformedDNA to help sponsors design and execute more effective clinical trials
Under the strategic partnership, WCG and InformedDNA will launch the Center for Genetics and Precision Medicine in Clinical Trials, which will unite InformedDNA’s substantial genetics resources and expertise with WCG’s global network of 550 experts in clinical trial optimization and its proprietary industry Knowledge Base™.

Session at ASCO shows community oncology success in precision medicine

Harvard Project Seeks ‘Exceptional Responder’ Cancer Patients To Figure Out What Went Right

Tweeting Oncologist Draws Ire And Admiration For Calling Out Hype
Dr. Vinay Prasad @VinayPrasadMD has made a name for himself by calling out the hype surrounding #precisionmedicine and confronting other examples of hype in his field.

Loxo Scores A Success With Second Targeted Cancer Drug

‘Holy grail of cancer research’: doctors positive about early detection blood test
Liquid biopsy blood tests show signs of finding 10 different types of cancer at an early stage.

Gene treatment helps rats with spinal cord injury regain their nerves
Hopes for injured humans and larger animals as groundbreaking gene therapy helps mend damaged nerves on the spine of rodents by dissolving scar tissue.


Making genome editing easier for all
The simpler, faster CRISPR, which is presented in the journal Nature Communications, offers a broad platform for off-the-shelf genome engineering that may lower the barrier of entry for this powerful technology.

UC Berkeley Finally Scores a Win With Two CRISPR Patents
One, granted on Tuesday, was first applied for in 2014. The other and more significant patent, applied for in 2015 but based on a 2012 discovery, will be granted next week.

Doudna-Charpentier team awarded U.S. patent for CRISPR-Cas9
The U.S. Patent and Trademark Office has granted patent number 10,000,772 to the University of Berkeley covering the use of CRISPR-Cas9 gene editing with formats that will be particularly useful in developing human therapeutics and improvements in food security.

Treating genetic disease: Is a cure a cut away?


NIH releases strategic plan for data science
By 2025, the total amount of genomics data alone is expected to equal or exceed totals from the three other major producers of large amounts of data: astronomy, YouTube, and Twitter.
The generation of most biomedical data is highly distributed and exist in a wide variety of formats, which complicates the ability of researchers to find and use biomedical research data generated by others and creates the need for extensive data “cleaning.”

New cancer treatments lie hidden under mountains of paperwork
A NYT article by Gina Kolata making a case for data sharing to fight cancer.

Six Isreali companies personalizing cancer treatment
Expertise in data science has pushed Israel to the forefront in devising technologies for predicting the best course of treatment for each patient. Companies are: Curewize, Rosetta Genomics, NovellusDx, ChamptionsOncology, Barcode Diagnostics, and Optimata.

FDA approves first drug comprised of an active ingredient derived from marijuana to treat rare, severe forms of epilepsy
The U.S. Food and Drug Administration approved Epidiolex (cannabidiol) [CBD] oral solution for the treatment of seizures associated with two rare and severe forms of epilepsy, Lennox-Gastaut syndromeand Dravet syndrome, in patients two years of age and older.

AARP invests $60M in the Dementia Discovery Fund to kick-start its ‘Disrupt Dementia’ campaign
New AARP physician survey underscores the need for innovative solutions to World’s Brain Health Crisis impacting more than 50 million people.

FDA repays industry by rushing risky drugs to market
As pharma underwrite 3/4 of the FDA’s budget for scientific reviews, the agency is increasingly fast-tracking expensive drugs with significant side effects and unproven health benefits.

FDA approves first drug comprised of an active ingredient derived from marijuana to treat rare, severe forms of epilepsy
The U.S. Food and Drug Administration approved Epidiolex (cannabidiol) [CBD] oral solution for the treatment of seizures associated with two rare and severe forms of epilepsy, Lennox-Gastaut syndromeand Dravet syndrome, in patients two years of age and older.

Future of Cardiology Will Be Defined by Digital, Mobile Advances

Microbe Breaks ‘Universal’ DNA Rule by Using Two Different Translations

Whole-Genome Sequencing Gaining Traction in Public Health, Outbreak Surveillance

Can a Parent’s Life Experience Change the Genes a Child Inherits?


Dash Puts Science Research On The Blockchain
Why publish a genome to the blockchain? It helps prevent agribusiness from claiming a patent to the genome in the future, is the short answer.


A short course of laxatives has long-lasting effects on microbiome
Drugs prompt some gut bacteria to vanish in mouse


A novel data-driven method to personalize cancer treatment
PanDrugs is a new computational methodology that prioritizes drug treatments based on patient genomic data and is the first drug prescription tool that takes into account pathway context, collective gene impact, and information from functional experiments.

CRISPR-FRT targets shared sites in a knock-out collection for off-the-shelf genome editing

Massive study sheds light on the genetic roots of a dangerous, yet common, heart arrhythmia
Published in Nature.

Framework identifies genetic missense mutations linked to autism spectrum disorder

Prevalence and properties of intragenic copy-number variation in Mendelian disease genes
This Invitae publication investigates the frequencies and characteristics of intragenic copy-number variants (CNVs) in a deep sampling of disease genes associated with monogenic disorders.

Structural alterations driving castration-resistant prostate cancer revealed by linked-read genome sequencing
Paper demonstrating the power of 10x Genomics Linked-reads.

Multiscale analysis of independent Alzheimer’s cohorts finds disruption of molecular, genetic, and clinical networks by human Herpesvirus

Researchers discover a new type of lung cancer

Genomics offers new treatment options for infants with range of soft tissue tumours
Scientists uncover the genetic changes causing a group of related infant cancers

Genes associated with infantile forms of schizophrenia identified

Thousands of large-scale RNA sequencing experiments yield a comprehensive new human gene list and reveal extensive transcriptional noise

Some science journals that claim to peer review papers do not do so

Key molecule of aging discovered

Genomic and Molecular Landscape of DNA Damage Repair Deficiency across The Cancer Genome Atlas
PanCancer atlas study finds homology-dependent recombination and direct repair the most frequently altered DNA damage repair alterations across TCGA

Next-generation sequencing tests to become routine

Upfront Next-Generation Sequencing Is Faster, More Cost Effective in Metastatic NSCLC

The Microbiome and Systemic Lupus Erythematosus

A clinician’s guide to microbiome analysis

One of the Most Widely Used Methods in Epigenetics Can Cause Misleading Results


Editas Medicine commits $125M to Broad to secure source of genome editing inventions
The deal gives Editas first refusal on genome editing inventions developed in the sponsored research.

Why Bill Gates is betting on a start-up that prints synthetic DNA
Ginkgo Bioworks has raised $429 million, including from Cascade Investment, the asset management firm of Bill Gates, and is reportedly worth $1 billion.

Roche bags full control of Foundation Medicine in $2.4B follow-up buyout

AbbVie and Calico add additional $1 Billion to 2014 age-related disease deal

Mergers and Acquisitions

SOPHiA GENETICS acquires Interactive Biosoftware to drive growth

Roche to acquire Foundation Medicine for $2.4bn

DNA app store-runner Helix builds out its C-suite, acquires Denver-based HumanCode

Bio-Techne to Acquire Liquid Biopsy Firm Exosome Diagnostics for $250M

News for the month of May 2018

This May, Geisinger moved to make DNA sequencing a part of its standard clinical care. The resulting expanded program moves its population health genomics program beyond research and into routine clinical practice.

Three years after beginning the All of Us Research Program (PMI), the NIH announced that it is officially inviting all Americans to contribute to a massive genetic library said to be more inclusive and accessible than any such database built so far. Dr. Francis Collins was recently interviewed on what to expect from the Precision Medicine Initiative.


Illumina acquires Edico Genome to accelerate genomic data analysis
The DRAGEN platform to complement Illumina’s sequencing portfolio and to enable customers to benefit from reduced investment in compute infrastructure, and accelerated result times, to improve their overall efficiency and to allow greater emphasis on interpretation and reporting.
More news coinciding with Bio-IT World 2018 on our blog.

Google adds new life science platform partners to GCP
New platform and software providers in the biomedical space are joining Google Cloud: PetaGene, BC Platforms, OnRampBio, Seven Bridges Genomics, and WuXi NextCODE.
More news coinciding with Bio-IT World 2018 on our blog.

Swift Biosciences and Genomenon announce a partnership to accelerate biomarker selection for targeted NGS panels
Genomenon and Swift will co-market solutions in an integrated offering to make it easier to construct, validate, and implement custom NGS assays as a follow-up to whole genome or exome sequencing studies, and dive deep into specific biological pathways.

New startup becomes Airbnb for gene sequencers
Meenta is an instrument sharing service for Next-Generation Sequencing. Meenta maps sequencers into a network of shared sequencing. Each host facility – a combination of universities, research hospitals, private institutions, and commercial companies – sets their own sequencing price. They can, however, change them at any time, to say throw a flash sale when they need to fill up a few lanes. Just like Uber and Airbnb, Meenta collects a small fee to broker each transaction.

BioDiscovery launches NxClinical 4.1, a Comprehensive System Allowing Interpretation of Variants of Any Size from SNVs to Large CNV

Next-Generation Sequencing Proves Cost-Effective in Metastatic non-small cell lung cancer

The genome sharing economy: How you could make money renting out your DNA

Making next-generation preconception screening a reality for parents

Next-Gen Sequencing: The Clinical Conundrum
Future appears bright, but drawbacks can range from annoying to disheartening

Genomic/Genetic Testing

Genetic testing is dead, long live genetic testing: Sean George of Invitae
An interview with Sean George, CEO of Invitae on Mendelspod.

Color Genomics is rolling out services to test for genes linked to cancer and high cholesterol
Color is partnering with universities who will make the tests available to patients alongside a counselor.

Can genetic counselors keep up with 23andMe?
The rise of spit kits is leaving consumers with lots of data and few answers. Genetic counselors could help people understand these results, but there aren’t enough of them to go around.

Sarepta and Invitae Expand Partnership to Advance Clinical Research in Duchenne Muscular Dystrophy

Blood Transfusions Via Genome Sequencing

Researchers call for new genetic tests for congenital diseases
Researchers from the Mount Sinai School of Medicine and collaborators have discovered that genetic mutations called epivariations are the cause of certain neurodevelopmental disorders and congenital diseases.

Genetic Testing Could Result in Life-Extending Treatment for Incurable Pediatric Brain Tumors

Medicine’s Wild West: 10 new genetic tests enter the market each day

Artificial Intelligence

AI is key to precision medicine, but hospitals must have strategies for data integrity
That goes both for IT buyers making decisions about technology and clinicians not getting “bamboozled” by questionable data science, experts said at the Precision Medicine Summit.

London hospitals to replace doctors and nurses with AI for some tasks 
UCLH aims to bring ‘game-changing’ benefits of artificial intelligence to NHS patients, from cancer diagnosis to reducing wait times.

AI in the Life Sciences: Six Applications
Big Data Plus Machine Learning Equals Scientific Advancement

Companion Dx

FDA approves first NGS-based companion Dx
Next-generation sequencing based companion diagnostics with the potential to detect multiple lung cancer mutations – Thermo Fisher Scientific’ Oncomine DX Target Test diagnostics test to identify 369 variants in 23 genes in a single assay for lung cancer – has been approved by the FDA. Unlike most tests that are run exclusively by labs in which they were developed, these NGS based tools can be distributed all over the USA, FDA approval signal shifts in diagnostics.

Foundation Medicine to develop MSI diagnostic for Merck’s Keytruda

Precision Medicine

The government is opening the doors to its big new genetics library
The government is opening the doors to its big new genetics library. The NIH officially launches the All of Us initiative.

Interview with Dr. Francis Collins
On what to expect from the recently announced Precision Medicine Initiative.

Geisinger to make DNA sequencing a part of routine clinical care
According to Feinberg, Geisinger will launch its clinical DNA sequencing initiative with a 1,000-patient pilot program over the next six months. Once the pilot is completed, the program will then be rolled out throughout its sites in Pennsylvania and southern New Jersey.

The DNA data we have Is too white. scientists want to fix that
In an era of personalized medicine, not including minorities in genetic studies has real-world health impacts.

Harvard Business School Kraft Precision Medicine Accelerator brings together five leading cancer organizations to engage patients and accelerate precision medicine across cancers
A pilot program aimed at engaging and empowering patients around their treatment journey. The organizations include LUNGevity Foundation, the Metastatic Breast Cancer Alliance, the Multiple Myeloma Research Foundation (MMRF), the Pancreatic Cancer Action Network (PanCAN), and the Prostate Cancer Foundation.

GenomWeb survey on public awareness of personalized medicine
Less than 10 percent said they had heard of the All of Us Research Program and most aren’t willing to pay more than $100 out of pocket for whole-genome sequencing.

PierianDx Partners with ScienceVision to Bring Robust Precision Medicine Support to Southeast Asia

New Cancer Treatments Lie Hidden Under Mountains of Paperwork

How Genomics Are Guiding Lung Cancer Patients Into Clinical Trials

Are You And Your Primary Care Doc Ready To Talk About Your DNA?

Protecting confidentiality in genomic studies


A gut bacterium’s guide to building a microbiome
Unlike invading pathogens, which are attacked by the immune system, certain good bacteria in the gut invite an immune response in order to establish robust gut colonization.

Are the gut microbiota determined by genes or the environment?
As the importance of the gut microbiota becomes increasingly clear, researchers clarify whether it is shaped by genes or the environment.


CRISPR’s MAGESTIC Evolution Makes Gene Editing More Precise


Golden State Killer and the cancer prediction space
Mendelspod discussion – ethical issues, Zuckerberg before Congress, and AACR – with Nathan Pearson (Root Deep Insight) and Laura Hercher (Sarah Lawrence College).

23andMe sues ancestry for patent infringement, misleading marketing

Genomic medicine: catch the gene therapy wave
This article kicks off a series on cell and gene therapy and genome (aka gene) editing.

Genome pioneer Craig Venter is retiring from Human Longevity and returning to JCVI

Biology will be the next great computing platform
Synthego is making molecules to rewrite the code of life.

Every Cell in Your Body Has the Same DNA. Except It Doesn’t

Top 10 Under 40
Biopharma Research and Businesses Benefit from Contributions of Emerging Leaders


Data sharing in PLOS ONE: An analysis of Data Availability Statements

Biologists discover function of gene linked to familial ALS
A study in worms reveals gene loss can lead to accumulation of waste products in cells.

Big data tool predicts best lung cancer treatment

Link between Huntington’s Disease And Rheumatoid Arthritis found

Scientists find fear, courage switches in brain

Comprehensive genetic testing for female and male infertility using next-generation sequencing

First-line genomic diagnosis of mitochondrial disorders

New chromosome study can lead to personalized counseling of pregnant women


South Korea to invest W35.7b (US $33.4M) over the next 3 years to build a medical AI system to patients’ medical data to offer personalized diagnostics and treatment plans in developing homegrown medical AI system

Celsius Therapeutics bags $65M to develop precision drugs for cancer, autoimmune disease

Genoox closed $6 million in series B

FogPharma raised $66 million in series B

Strata Oncology raised $26 million in series B

Mergers and Acquisitions

Illumina buys start-up Edico Genome for $100M to help speed up genetic analysis
More news coinciding with Bio-IT World 2018 on our blog.

Agilent Technologies to enhance lab informatics with the acquisition of Genohm
Learn more about Genohm and their LIMS product on our blog.

Shire says willing to recommend Takeda’s $64 billion offer to shareholders
It would be the biggest acquisition of a drug company this year.

Myriad to acquire Counsyl for $375M
The acquisition expected to close in 2019. Counsyl has experienced rapid growth since being founded in 2007, and in the last twelve months alone has generated more than $134 million in revenue and performed over 280,000 reproductive genetic tests.

News Coinciding with Bio-IT World 2018 

Following is a review of the different announcements that coincided with the conference spanning commercial product launches, new partnerships and collaborations, product integrations, and other interesting and relevant topics.

Read the full Bio-IT World 2018 enlightenbio blog.

Strategic partnerships and collaborations

Google Cloud for Life Sciences adds new products and partners: Google is actively working in the life science sector as demonstrated with a new product launch and the announcements of new partnerships of which the complete list now includes: BC Platforms, the Broad Institute’s FireCloud, Dell EMC, DNAstack, Elastifile, Komprise, OnRamp.Bio, Petagene, Seven Bridges Genomics, and WuXi NextCODE.

PierianDx partners with ScienceVision to bring precision medicine support to Southeast Asia Under the partnership, ScienceVision will commercialize and distribute the PierianDx Clinical Genomics Workspace™ (CGW) platform for clinical genomic informatics, classification, interpretation, and clinical reporting.

Product launches

Google Cloud showcased their recent progress with an example being Variant Transforms, which helps organizations structure genomic variant data in BigQuery.

Bluebee introduces BLUEBASE which runs on the Bluebee core data analysis platform and provides post-sequencing intelligent data aggregation, data querying, and deep knowledge mining. BLUEBASE is designed for use by diagnostic assay developers, pharmaceutical researchers, clinical trial operators, and investigators of population-scale initiatives.

Linguamatics debuts iScite, which supports artificial intelligence-based scientific searches and guides their users via an Answer Routing Engine that delivers insightful answers to their search questions across biomedical data sources.

L7 Informatics Announces the Availability of Microsoft Genomics on the L7 Enterprise Science Platform The expanded offering enhances ESP’s configurability and content portfolio. Furthermore, L7 has validated the performance of ESP on Microsoft Azure, enabling its users to confidently utilize Azure for their scientific process and data management needs.

BioBam Launches a New Version of Blast2GO for the analysis of novel genomes. With the launch of Blast2GO Version 5 it is now an all-in-one solution for functional genomics analysis of newly sequenced organisms. With this latest version, users will benefit from several new visualization and workflow features allowing them to perform high-throughput as well as exploratory analysis in just one place.

Dotmatics announced Bioregister 3.0, a registration system which offers new capabilities that enhance intellectual property protection and supports emerging methodologies in biologic drug discovery.


Illumina to acquire Edico Genome for $100M Edico’s platform will be accessible through Illumina sequencers or on the cloud. Illumina will work with cloud storage providers such as Amazon to make Edico’s pipelines available on Illumina’s BaseSpace analysis platform.

Agilent Completes Genohm Buyout, Strengthens Portfolio The acquisition will allow Agilent to widen its growth prospects, and further expand its software portfolio by adding LIMS and workflow management. This strategic acquisition complements Agilent’s own sales efforts and will help it to offer better services to its customers. Learn more about Genohm in the enlightenbio company spotlight Genohm Aims to Hit the Sweet Spot With a Customizable SLIMS + ELN Solution for Lab Information Management.

Other News of Interest

Lab7 Systems Appoints New CEO and Changes Name to L7 Informatics which reflects the expansion of L7 Informatics’ product offering on its mission of providing synchronized solutions for science and health, and to pioneer scientific process and data management (SPDM) in order to accelerate discoveries and drive higher quality of healthcare. Along with this name change the company also  announced its new website at l7informatics.com.

Broad Institute is seeking every drug ever developed to build the Drug Repurposing Hub to find new potential uses.

Broad Institute Spin Out Aims To Bring Precision Medicine To Autoimmune Disease Celsius Therapeutics, is launching with $65 million from funders including Third Rock Ventures, GV (formerly Google Ventures), Heritage Provider Network, Casdin Capital, and Alexandria Venture Investments. It aims to use Regev and Kuchroo’s techniques for constructing detailed profiles of individual cells to develop drugs for autoimmune diseases and cancer immunotherapies.

News for the month of April 2018

In April, the GIANT Consortium announced that it is adding an additonal 1 million research participants to its study on the genetics and biology of height and obesity with data from 23andMe and the UK Biobank. This study could bring substantial insights into health predictions and screening.

Another exciting announcement is that 13 European countries have committed to work together and ensure secure and authorized cross-border access to genomic and other health data. The UK, Sweden, Finland, Czech Republic, Estonia, Spain, Portugal, Slovenia, Malta, Luxembourg, Lithuania, Greece and Italy, have pledged to share one million genomes for research purposes by 2022.

Genomic/Genetic Testing

High hopes for understanding height and obesity
New collaboration with the Broad Institute, adding an additional 1 million research participants to the GIANT Consortium’s study on the genetics of height and obesity.

Helix takes clinical genetic testing straight to the consumer
Starting this summer PerkinElmer will start selling its 59 gene test – with a role in one of 34 conditions that are treatable if caught early – through the consumer genomics marketplace Helix.

GRAIL announces data from prototype blood tests for early cancer detection
Initial Results from the Circulating Cell-Free Genome Atlas (CCGA) study support feasibility of a highly specific blood test for early cancer detection.

Consumers don’t need experts to interpret 23andMe genetic risk reports

Study Finds Inaccuracies in 40 Percent of DTC Genetic Testing Results

Fantasy No Longer: Blood Biopsies Detect Tumor DNA, Could Catch Cancer Earlier

Decoding your baby’s DNA: It can be done. But should it be?


Genomenon, Veritas Partner on literature engine for variant interpretation
The companies have committed to creating an engine they said will further scale the global adoption of whole genome sequencing by reducing the time and cost of variant interpretation.

Genomenon, Rhythm Pharma partner on database of obesity mutations
The goal of the partnership is to create a database of genetic mutations associated with obesity as documented in published studies.

Podcast with Fiona Nielsen, CEO of Repositive
Discussing the data access bottleneck and her motivation to unlock it to benefit the entire community.

Genomenon Adds ACMG Classification Features to the Mastermind Genomic Search Engine


Blockchain technology used to record 50 million DNA data in India – Blockchain News
The Government of Andhra Pradesh (AP), India’s eighth-largest state, announced that it has signed a partnership with Shivom, a Germany-based private firm that deals in genomics and precision medicine to design a blockchain database for collecting and storing data of its 50 million citizens.

Blockchain and early cancer detection
ARNA Genomics (Russian company) plans to release ARNA tokens via ARNA Panacea, to be used for payments within the system by all platform members, allowing patients to pay tokens for tests of early cancer detection.

Blockchain templates unveiled by Amazon Web Services
Amazon targets the healthcare and finance industries with the new tools for developing blockchain-based apps, networks and projects.

Blockchain project will reward donors for their genomic data

Companion Dx

Bristol Partners With Illumina on diagnostic test to use with Opdivo
Drug giant Bristol-Myers Squibb is partnering with Illumina to develop diagnostic tests that will pair with Bristol’s cancer drugs.

Roche expands indication for cobas® EGFR Mutation Test v2 as a companion diagnostic with TAGRISSO®

Precision Medicine

TCGA completes comprehensive genomic analysis of 33 cancer types
After a decade of analyzing over 11,000 tumors from 33 types of cancer, the collaboration between the National Cancer Institute and National Human Genome Research Institute has launched the Pan-Cancer Atlas, providing a comprehensive understanding of 3 focus areas: cell-of-origin patterns, oncogenic processes, and signaling pathways.

Henry Ford Health to build new cancer center with $20 million anonymous gift
The Henry Ford Pancreatic Cancer Center will focus on various initiatives that hope to yield earlier detection for a disease that is often identified.

New Tools Push the Boundaries of Precision Medicine
As genomic data begins to inform more aspects of patient care, new products, AI and the cloud offer to simplify the storage and use of DNA information.

Why The Future Of Precision Medicine Runs Through The IVF Lab
What does precision medicine mean for biotechnology? It means a future where every inherited genetic disease is curable.

Changing the game: Machine learning in healthcare
A game changer for EHR.

Why the Healthcare Cloud Holds the Key to Future Innovation

Cloud Computing

Chinese Academy of Sciences launches cloud platform for researchers
Applications on the cloud platform are divided into five categories: data resources, cloud computing with AI and supercomputers, research software support, research community networks and outreach to foreign scientists and platforms. It draws data from the academy’s research institutes and major scientific installations, as well as many of China’s top universities and private innovation centers.


Data in their DNA: Repositive.io builds common ground for genomic research
Fiona Nielsen, Repositive’s Founder and CEO, has a vision of the future where researchers can browse millions of datasets, all in a centralized place, to find the data they need to keep their studies moving forward.

Transitioning from big data to discovery: data management as a keystone analytics strategy
By Ari Berman, BioTeam, Inc.

UCSF names first-ever Chief Genomics Officer
UC San Francisco has appointed Aleksandar Rajkovic, MD, PhD, as the first Chief Genomics Officer (CGO) of UCSF Health Precision Medicine Leader to oversee clinical genomics across UCSF Health.

Lawsuit alleges Michigan illegally obtains newborns’ blood
A group of Michigan parents have filed a lawsuit alleging that the state didn’t obtain proper consent to draw or store their newborns’ blood for medical research.

Earth Biogenome project aims to sequence genomes of 1.5M species
This will take 10 years, costs $4.7 billion and will require more than 200 petabytes of digital storage capacity.

Accenture releases 2018 consumer survey on digital health
According to the research, healthcare consumers continue to show strong use of digital technology for self-service care. In 2018, 75% of US consumers surveyed said technology is important to managing their health. Patients are increasingly open to intelligent technologies taking on elements of their care, such as medical consultations and monitoring.

13 countries sharing 1 million genomes for research
Sir John Bell: “This programme should provide a new global standard for human genome sequencing and will greatly improve our ability to define and treat disease.” France and Germany have not signed up to the agreement so far.

Institutional support for data sharing
As the profound benefits of research data sharing have been recognised by institutions, funders, and individual researchers, we have seen a number of high-profile funding agencies implementing open data policies to complement their existing open access mandates. Adopters of such policies include the European Commission’s Horizon 2020 programme, the Wellcome Trust, and the Bill and Melinda Gates Foundation.

Happy 15th Birthday, Human Genome Project

Genetics Research Is Failing Most of the World’s Population

Elaine Mardis Chosen as 2018-2019 AACR President-Elect

Personalized Medicine accepted for coverage by MEDLINE

How the DNA Revolution Is Changing Us

Infinitesimal Odds: A Scientist Finds Her Child’s Rare Illness Stems From the Gene She Studies


More than half your body is not human
Human cells make up only 43% of the body’s total cell count. The rest are microscopic colonists. Understanding this hidden half of ourselves – our microbiome – is rapidly transforming understanding of diseases from allergy to Parkinson’s.

Microbes in the Gut Influence Neurodegeneration


A global transcriptional network connecting non-coding mutations to changes in tumor gene expression
Researchers have identified nearly 200 mutations in non-coding DNA that play a functional role in cancer.

Found: a new form of DNA in our cells
Scientists have tracked down an elusive ‘tangled knot’ of DNA.

Tensions in ethics and policy created by National Precision Medicine Programs

Comparative molecular analysis of gastrointestinal adenocarcinomas
New TCGA papers shed light on cancer development.

Ultra-long read, single-molecule nanopore sequencers are beginning to find an expanding set of research applications

β-Amyloid accumulation in the human brain after one night of sleep deprivation

The clinical impact of using complex molecular profiling strategies in routine oncology practice

False positive plasma genotyping due to clonal hematopoiesis

Current understanding of the human microbiome

Natural barcodes enable better cell tracking

New method uses patients’ unique genetic variation profiles to aid in personalized medicine
NIH study revises molecular classification for most common type of lymphoma


RTI invested an undisclosed amount of money and will provide what it calls “strategic support” to PierianDx

Jeff Bezos-backed cancer startup is said to seek to raise US$1 billion

Kineta Chronic Pain Inks License Deal with Genentech for Over $359 Million
Seattle-based Kineta Chronic Pain, a subsidiary of Kineta, signed an exclusive option and license deal with Genentech, a Roche company. The two companies will develop Kineta’s alpha9/alpha10 nicotinic acetylcholine receptor (nAChR) antagonists to treat chronic pain.

LG Health, Aspire launch $300 million precision medicine fund

Healthcare-focused fintech startup AffordPlan raises $10 M in Series B funding

NuProbe Announces $11 Million Series A Funding Round

Mergers and Acquisitions

Novartis to expand gene therapy pipeline with acquisition of AveXis for $8.7 billion

Roche completes $1.9 billion acquisition of digital healthcare technology company Flatiron Health

News Coinciding with ACMG April 2018 

Following is a review of the different announcements that coincided with the conference spanning commercial product launches, new partnerships and collaborations, product integrations, and other interesting and relevant topics.

Read the full ACMG 2018 enlightenbio blog.

Genetic testing / precision medicine

Geisinger execs: DNA sequencing program saving patient lives – Over time, as we sequence the exomes of our patients & learn even more about particular genome variants and their impact on health conditions, we predict that ~10-15% will benefit. With more than 90,000 people participating in Geisinger’s MyCode initiative, 3% have genetic variants that can be used to forecast health problems, and the number is expected to rise.

Invitae research highlights utility of proactive genetic screening, importance of assessing secondary findings in genetic testing Healthy individuals are increasingly seeking genetic testing to identify their personal risks for inherited conditions that may affect disease emergence and outcome in areas such as such as cancer and cardiovascular disease. An analysis of 1,300 patients tested with a diagnostic-grade genetic screening panel designed for healthy adults found clinically actionable results in 16 percent of patients.

Cancer Treatment Centers of America and Foundation Medicine Launch Joint Educational Campaign to Raise Consumer Awareness of Precision Medicine Approaches in Cancer Care The collaboration brings together CTCA, a nationwide cancer care network committed to delivering precision treatment, and Foundation Medicine, a leader in molecular testing that offers a suite of comprehensive genomic profiling (CGP) assays that may help identify alterations in an individual’s cancer and matches them with potentially relevant targeted therapies, including immunotherapies.

Strategic partnerships and collaborations

Loxo Oncology and Illumina to partner on developing next-generation sequencing-based pan-cancer companion diagnostics Loxo Oncology will utilize a companion diagnostic version of TruSight Tumor 170 for Larotrectinib (NTRK) and LOXO-292 (RET).

Charles River Laboratories and PathoQuest expand strategic biologics partnership The expansion of their strategic partnership agreement will provide next-generation sequencing (NGS) services to the biologics industry. As part of the expanded partnership, Charles River intends to make a direct investment in PathoQuest.

Product launches

Launch of AMELIE (Automated Mendelian Literature Evaluation) – The Stanford Bejerano lab launched a new literature mining tool with intends to simplify monogenic disease diagnoses with exome sequencing. Gill Bejerano presented the findings from an analysis of more than 200 singleton Mendelian disease cases.

Jude Cloud launches for researchers worldwide St. Jude, in collaboration with Microsoft and DNAnexus, will offer NGS data and analysis tools to accelerate research and cures for life-threatening pediatric diseases.

Fluidigm releases CFTR next-generation sequencing library prep assay for use with the Juno System The new assay, the Advanta™ CFTR NGS Library Prep Assay, is a highly efficient and scalable next-generation sequencing (NGS) library prep workflow for sequencing of the CFTR (cystic fibrosis transmembrane conductance regulator) gene.

Genoox collaborates with Bionano Genomics to enhance the detection of disease-causing structural variants in DNA The two companies intend to develop a genome informatics workflow to integrate and annotate Bionano structural variant calls with sequencing data within the Genoox platform.

PerkinElmer collaborates with Helix to drive innovation in exome-based personal genomics The initial targeted product offering will return results for 59 genes that the American College of Medical Genetics and Genomics (ACMG) identifies as highly penetrant genetic conditions with established interventions aimed at significantly reducing morbidity and mortality. All DNA sequencing data for these products will be generated utilizing Helix’s proprietary Exome+ assay in its CLIA- and CAP-certified next-generation sequencing laboratory.

Veracyte announces precision medicine collaboration with Loxo Oncology The agreement leverages Veracyte’s new Afirma Xpression Atlas Platform to advance development of highly selective medicines for patients with genetically defined cancers, including thyroid cancer.


TCGA Completes Comprehensive Genomic Analysis of 33 Cancer Types After a decade of analyzing over 11,000 tumors from 33 types of cancer, the collaboration between the National Cancer Institute and National Human Genome Research Institute has launched the Pan-Cancer Atlas, providing a comprehensive understanding of three focus areas: cell-of-origin patterns, oncogenic processes, and signaling pathways.

FDA finalizes guidances to accelerate the development of reliable, beneficial next generation sequencing-based tests The new policies issued are meant to  provide a modern and flexible framework to generate data needed to support the FDA’s review of NGS-based tests, and give developers new tools to support the efficient development and validation of these technologies.

Researchers Turn to Facebook to Survey Rare Disease Patients for Study Nara Sobreira (Assistant Professor of Pediatrics, Johns Hopkins University School of Medicine), described how she used the social media platform to contact patients with two rare diseases she has been studying — Ollier disease and Maffucci syndrome — to survey them for a study that also involved data from a review of the clinical literature.

Paul R. Billings joins Natera as Chief Medical Officer and Senior Vice-President of Medical Affairs to help lead its efforts across reproductive health, oncology, and new emerging businesses.

Chris Callahan joins PierianDx as Chief Commercial Officer to drive expansion of its genomics technology platform for clinical labs. Callahan previously was at Sunquest Information Systems where he held the role of VP and General Manager for GeneInsight.

News for the month of March 2018

In March, the FDA authorization of 23andMe’s new reporting of 3 of the more than 1,000 BRCA1/BRCA2 mutations took center stage. Though this authorization classifies 23andMe’s report as a medical device and requires the company to address and reduce risks to customers, it is argued that this test will only be helpful to a small subset of people, a pitfall of consumer breast cancer testing.

Other worthy news is the newly established partnership between Google and WuXi NextCODE. Google will begin hosting WuXi NextCODE’s core suite of capabilities on the Google Cloud with the aim of enhancing its comprehensive genomics capabilities.

Genomics/Genetic Testing

FDA authorizes, with special controls, direct-to-consumer test that reports three mutations in the BRCA breast cancer genes
The test only reports 3 out of more than 1,000 known BRCA mutations and a negative result doesn’t rule out increased cancer risk. The FDA granted the marketing authorization to 23andMe.

Opinion: No, FDA Didn’t Really Approve 23andMe’s BRCA Test
Rather, the breast cancer mutation screen was classified as a type of medical device with obligations for the company to reduce risks to customers.

How Did 23andMe Stumble in Its Early Days?
Linda Avey, co-founder of 23andMe, discusses the early days.

Blueprint Genetics is setting a new standard for quality with the introduction of new and improved panels
A total of 157 panels have been updated and 21 new panels launched.

Intermountain Healthcare to build global DNA registry with 23andMe, AncestryDNA data 
The project, dubbed the GeneRosity Registry and funded by the Intermountain Research and Medical Foundation, will compile data from adults who have already purchased direct-to-consumer genetic tests from commercial sites like AncestryDNA, MyHeritage or 23andMe. These participants will have the option to voluntarily upload raw and unprocessed genetic test results to the project’s website.

The government wants to free your health data. Will that unleash innovation?
CMS is seeking to open the data floodgates. The agency wants to put patients in charge of their information instead of the hospitals and insurers that collect it and keep it locked within their own systems. And it wants to do so explicitly to help app and device makers gain access to high-quality data.

Some breast cancer patients are missing out on genetic counseling
Nearly half of newly diagnosed breast cancer patients who should be recommended for genetic testing did not get it. A quarter of these patients were not counseled about their potential risk, a new study finds.

Tech’s Next Big Wave: Big Data Meets Biology

What’s driving this frenzy of health care–related dealmaking? It’s data.

CMS finalizes coverage of DNA sequencing for cancer patients

How Geisinger Is Using Gene Screening to Prevent Disease

Consumer interest in genetic testing is exploding. Are providers ready?

New computational method helps to identify tumor cell mutations with greater accuracy


Google Partnership With WuXi NextCODE to Bring Sequencing to the Cloud
Partnership aims to enhance its comprehensive genomics capabilities – this will include hosting WuXi NextCODE’s core suite of capabilities on Google Cloud and its availability on the Google Cloud Launcher marketplace.

Pacific Biosciences Announces Issuance of U.S. Patent for Concatemer Sequencing
Covers novel methods for single molecule sequencing of concatemers having complementary sense and antisense regions of a nucleic acid sample, including such concatemers generated from a rolling circle amplification reaction.

Edico Genome Announces Flagship Global Distribution Partnership Program
Initiative facilitates expansion of DRAGEN, enabling global markets to better access rapid, accurate and cost-effective genomic analysis.

Fast genome tests are diagnosing some of the sickest babies in time to save them
Rapid DNA sequencing is helping doctors treat critically ill infants in days rather than weeks.

High-throughput sequencing: DFG establishes four competence centres
German Research Foundation spends €14 million ($17.3 million) over three years.

The Hidden Costs of “Free” Genetic Counseling

Illumina Sues Natera for NIPT Patent Infringement

Artificial Intelligence (AI)

Why Big Pharma and biotech are betting big on AI
AI could drastically reduce the time it takes to develop new life-saving drugs.

Former Google CEO says artificial intelligence won’t replace your doctor
Eric Schmidt doesn’t think that doctors will be replaced by computers, and stressed that he’d want a human calling the shots but supported by technology.

Tech’s Next Big Wave: Big Data Meets Biology
Big data is thriving the frenzy of healthcare. More specifically, it’s your data: your individual biology, your health history and ever-fluctuating state of well-being, where you go, what you spend, how you sleep, what you put in your body and what comes out.


Top 12 Companies Bringing Blockchain To Healthcare
Security, trust, traceability, and control – these are the promises of the blockchain, the technology with the most potential in healthcare at the moment. As these are highly attractive traits for storing sensitive health data or for the operation of supply chains, many companies aim to leverage its powers for healthcare.

Precision Medicine

Finland’s FinnGenproject aims to match genome information with over 500,000 blood samples.
It will be the largest study of its type. At the helm is Aarno Palotie who spoke to PMF editor Mark Glover about his hopes for the ambitious project, the EU’s Privacy Act and the importance of collaboration.

Beyond Flatiron: The Rising Power Of Oncology Clinical Data Companies
What role will emerging oncology clinical data companies soon be and what are the implications of the rise of these types of companies – for both pharma and for healthcare?

The Struggle to Build a Massive ‘Biobank’ of Patient Data
This spring, the NIH will start recruiting participants for one of the most ambitious medical projects ever envisioned.

Estonia has started a program to recruit and genotype 100,000 new biobank participants as part of its National Personalized Medicine programme.

Israel launches $60m initiative to boost tailor-made meds


Google signed a key deal with a $9.5 billion device maker to save healthcare from a ‘world of ignorance’
Google has teamed up with Flex. Flex is using the Google Cloud technology to build Bright Insight.

Digital R&D, Transforming the future of clinical development
A Deloitte report which offers guidance for the FDA’s upcoming software regulation pathway.

Theranos CEO Holmes and former president Balwani charged with massive fraud
Elizabeth Holmes, founder of embattled blood testing start-up Theranos, has been charged with “massive fraud.”

Experts warn DNA testing kits could put your genetic information in the wrong hands
Currently, there are anti-discrimination laws that protect you by limiting what your health insurer or employer can learn about your DNA, but those laws don’t apply to life insurance, disability or long-term care insurance companies.

With Medicare Support, Genetic Cancer Testing Goes Mainstream

Google Cloud for Healthcare: new APIs, customers, partners and security updates

ASCO Names CAR T-Cell Immunotherapy 2018 Advance of the Year

Novartis, OneOme, Syapse, Sophia Genetics, and WuXi NextCODE among the top 10 most innovative biotech companies per Fast Company


The VAAST Variant Prioritizer (VVP): ultrafast, easy to use whole genome variant prioritization tool

RNA-based therapy cures lung cancer in mouse models

Crowdsourced family tree yields new insights about humanity

A FAIR guide for data providers to maximise sharing of human genomic data

Highly parallel direct RNA sequencing on an array of nanopores

Microbiota-gut-brain axis is at epicenter of new approach to mental health

The landscape of genomic alterations across childhood cancers

Complex Structural Variants Resolved by Short-Read and Long-Read Whole Genome Sequencing in Mendelian Disorders

Exponential scaling of single-cell RNA-seq in the past decade


Helix Announces First Close of $200 Million in Financing to Drive Innovation in Personal Genomics

AstraZeneca spins out 6 drugs and an R&D group into Viela Bio, which emerges with a pivotal program and $250M

Oxford Nanopore announces £100 million ($140M) fundraising from global investors

Tempus Raises $80M in New Funding

News for the month of February 2018

Blockchain was center stage this February. Numerous new companies like Nebula Genomics (the latest brainchild of George Church), EncrypGen, Luna DNA, and Zenome are building platforms where individuals can sell their genetic information in return of cryptocurrency. Genomic data and transaction records will be secured by a blockchain, the same technology behind cryptocurrencies like Bitcoin.


This new company wants to sequence your genome and let you share it on a blockchain 
People will be able to earn cryptocurrency in exchange for letting pharma companies use their data.

How can I make money from my DNA?
A Q&A with Prof George Church – If you have your DNA sequenced, someone somewhere will be making money from the data. A new start-up aims to make sure that you get your share.

Disruption by Blockchain
A Q&A with David Koepsell, CEO of EncrypGen.

Artificial Intelligence (AI)

AI adoption rate picking up and radiologists are paying attention to workflow, career impact
Some are skeptical, but big majorities say machine learning could dramatically transform their line of work, according to new research.

A Statistical Search for Genomic Truths
The computer scientist Barbara Engelhardt develops machine-learning models and methods to scour human genomes for the elusive causes and mechanisms of disease.

Artificial Intelligence Can Support Killer Viruses in the War Against Superbugs
The World Health Organization has deemed antibiotic-resistant bacteria to be one of the most pressing global health concerns today. Time is key for developing new treatments, but we have some unlikely allies in the fight.

Genomics/Genetic Testing

Ambry Genetics and Invicro Announce Partnership to Provide Enhanced Capabilities with Advanced Genomics Services to Enable Precision Medicine
Both Invicro and Ambry were recently acquired by Konica Minolta.

Sophia Genetics Announces Genomic Test for Leukemia Detection
The newly announced capture-based myeloid clinical solution receives the CE-IVD mark.

Sema4 Launches Supplemental Newborn Screening Test for 190+ Childhood-Onset Diseases

A New Regulatory Threat to Cancer Patients
Washington may impose needless limits on genetic testing. The proposed new CMS policy would abruptly change the way NGS testing is regulated and administered.

Precision Medicine

A little-known technology that Fitbit and Apple are exploring could be the answer to healthy eating and peak performance
A San Francisco startup called Sano is designing a device that would make tracking our glucose as easy as reading the news or scrolling through Instagram.

Personalized Medicine Approvals Continued to Surge in 2017
The FDA approved 16 new personalized treatments in 2017 alone compared with a decade ago when these drugs only accounted for less than 10% of approvals.

InterSystems teams with Edico Genome for precision medicine workflows
The new partnership aims to enable integration of genomic data across the EHR, making it easier for physicians to order specific tests for personalized medicine.

As Genomics Matures, Funding Priorities Will Shift
Going forward  the NHGRI will focus on categories where it has a unique role to play. Technology development, for instance, will continue to be important. All priorities will fit within the institute’s mandate to improve human health.


Twist Bioscience Launches Exome and Custom Target Enrichment Solutions for Genomics and Clinical Researchers Conducting Next-Generation Sequencing
New Product Line Leverages Established DNA Synthesis Platform to Revolutionize Exome and Custom Sequencing.

Fact, not fiction: Why the American public needs to better understand genetic sequencing
The distrust in genetic sequencing and medical testing is rampant, and we have a few factors to thank for that. Since we’re in the early stages of genomic medicine there is a certain sense of skepticism.

DNAnexus Launches NGS Clinical Trial Solution
The new Clinical Trial Solution’s (CTS) purpose is to streamline the use of next-generation sequencing (NGS) data in regulated clinical trials.

10x Genomics Announces New Partnership Programs
The global partnership ecosystem’s purpose is to accelerate customer adoption of 10x Genomics’ sequencing applications through the Certified Service Provider and 10x Compatible Programs.

In our genes: How Google Cloud helps the Broad Institute slash the cost of research
A blog post by Jonathan Sheffi, Product Manager, Genomics & Life Sciences, Google Cloud.

DIY DNA sequencing for $2 a gene
A new sequencing methodology based on DropSynth was developed by researchers at UCLA.

State of Sequencing 2018 – Mendelspod Podcast
Keith Robison, Omics! Omics! blogger discusses the Illumina iSeq System, PacBio, and how close Oxford Nanopore is on PacBio’s heels.

New England Biolabs and Bluebee Partner to Deliver an End-To-End Data Analysis Solution for NEBNext Direct Target Enrichment

GenomeNext Embeds Genomenon’s Mastermind Search in Olympus Platform
The integration complements GenomeNext’s bioinformatic analysis pipelines with accelerated and automated variant curation for clinical genomic interpretation.


Apple is launching medical clinics to deliver the ‘world’s best health care experience’ to its employees
The AC Wellness clinics for employees are designed to create a program to promote healthy behavior.

Google sister-company Verily is plotting a move into a fast-growing corner of the health insurance industry
The company is hiring health insurance experts and has been talking about bidding for state Medicaid contracts.

Global Alliance for Genomics & Health Launches Roadmap
The ambitious GA4GH Strategic Roadmap includes the first 28 standards and frameworks to be developed as the organization focuses on aligning with the key needs of the international genomic data community. The roadmap includes deliverables planned across the eight GA4GH work streams focused on the areas of Clinical & Phenotypic Data Capture, Cloud, Data Use & Researcher Identities, Data Security, Discovery, Genomic Knowledge Standards, Large Scale Genomics, and Regulatory & Ethics.

PNAS Podcast on Big Data
Atul Butte explains how researchers can use existing data to answer biomedical questions.


Target, delete, repair
CRISPR is a revolutionary gene-editing tool, but it’s not without risk.


Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices

Multiplexed gene synthesis in emulsions for exploring protein functional landscapes

Data sharing and reanalysis of randomized controlled trials in leading biomedical journals with a full data sharing policy: survey of studies published in The BMJ and PLOS Medicine

Integrative omics for health and disease

Reducing Overtreatment of Cancer With Precision Medicine Just What the Doctor Ordered

Smoking gun for a Rare Mutation Mechanism


Viela Bio, an AstraZeneca spinout, put together a $250 million series A round and a management team from its parent company – AstraZeneca has carved off six inflammation and autoimmune assets to create the new biotech –  to guide the mix of clinical and preclinical programs forward.

Boost Biomes closes $2.05M seed round to develop microbiome-based products

CRISPR Startup Inscripta Raises $55.5M in Series C

Mergers & Acquisitions

Perkin Elmer acquires single-cell genomics company RHS

News for the month of January 2018

The first month of 2018 already was for sure rich in content and activities: It started out with a series of announcements emerging the JP Morgan Healthcare Conference with Illumina announcing their latest sequencer, the  iSeq 100 desktop sequencer, followed by news that included the cloning of two monkeys in China using the same technique as was used at the time for Dolly the sheep, and the sequencing and mapping of the most complete human genome using the Oxford Nanopores MinION device. The combination of the flurry of activities in January being an early sign that 2018 will bring lots of exciting and new developments in healthcare and life science research and applications.

Artificial Intelligence (AI)

What if an algorithm could predict death?
The “dying algorithm,” as we might call it, digested and absorbed information from nearly 160,000 patients to train itself. Once it had ingested all the data, it was tested on the remaining 40,000 patients. The algorithm performed surprisingly well.

Microsoft and Adaptive Biotechnologies are using AI to decode the immune system
The companies hope to pair advances in AI and machine learning with recent breakthroughs in biotechnology to map out the immune system and tap into the body’s impressive diagnostic system.

Artificial Intelligence: Implementing a Vision for Precision Medicine and Health
A team involving researchers from the Nutritional Immunology and Molecular Medicine Laboratory at Virginia Tech and the Biomedical and Translational Informatics (BTI) Institute at Geisinger Health System are working together to advance precision medicine by integrating clinical data, artificial intelligence (AI) systems, and advanced machine-learning (ML) methods.

Precision Medicine

Illumina and KingMed Diagnostics Partner to Develop Next-Generation Sequencing Technology for Chinese FDA Approval
Companies will jointly develop novel oncology and hereditary disease testing applications utilizing Illumina’s NGS technology.

Genomics England Adopts Edico Genome’s DRAGEN Bio-IT
The partnership will support Genomics England in making NGS the standard of care across the U.K.’s National Health Service (NHS) in 2018.

Illumina Remains NGS Leader But Competitors Expected to Gain, Survey Finds
The survey was conducted in the first half of December 2017 with a subset of GenomeWeb subscribers, targeting a variety of organizations and excluding instrument manufacturers/vendors, management consultants/venture capital/law firms, and public relations/advertising firms. Overall, 303 readers provided answers to at least a subset of the questions.

Spark Therapeutics Sets Price Of Blindness-Treating Gene Therapy At $850,000
A new drug, Luxturna, literally allows blind people to see. It does it by using a virus to insert new genes into patients’ eyes. The cost for Luxturna is $425,000 per eye, or $850,000 for most patients.

Drug Company Consortium To Sequence The Genes Of 500,000 Britons Over Next Two Years
Regeneron will handle the sequencing, and AbbVie, Alnylam Pharmaceuticals, AstraZeneca, Biogen, and Pfizer will all contribute $10 million each to create the genetic data, which the pharmaceutical firms will have access to for a year before they make it available for free to any researcher who wants it.

WuXi NextCODE Artificial Intelligence Used to Advance Precision Therapy for Rare Genetic Disorders of Obesity
A partnership with Rhythm Pharmaceuticals, a biopharmaceutical company aimed at developing and commercializing therapies for the treatment of rare genetic disorders of obesity, under which Rhythm is applying WuXi NextCODE’s proprietary deep learning capabilities to identify key genetic markers for rare metabolic syndromes.

The Promise of Precision Medicine, a Panel Discussion at the World Economic Forum (WEF)
Panel includes FDA commissioner Scott Gottlieb, Illumina’s Jay Flately, Nancy Brown (American Heart Association), V. Narasimhan designated CEO of Novartis, and Minister of Health in Singapor Tan Chorh Chan.

JP Morgan 2018 Healthcare Conference

Illumina Announces iSeq 100
Illumina unveils the $20,000 Desktop Sequencer aimed at sequencing germs.

Thermo Fisher Scientific Introduces Ion GeneStudio S5 Series, A Line of Highly Versatile Next Generation Sequencers

At JP Morgan 2018: A Sense That The Long-Promised Biotech Future Has Arrived; Is Tech Disruption Next?
An opinion piece by David Shaywitz.

Genomic/Genetic Testing

Invitae more than doubles annual volume, exceeds full-year 2017 guidance, and projects momentum to continue in 2018
127% year-over-year growth, 136% growth in revenue, and for 2018: anticipates accessioning at least 250K samples and generating at least $120M in revenue.


Scientists use pocket-size device MinION, made by Oxford Nanopore Technologie, to map human genetic code
Scientists have assembled the most complete human genome to be mapped with a single technology using the pocket-size portable DNA sequencer MinION.

Broad Institute release beta of a new version of the gnomAD browser
They are looking for test users to check their favorite genes and provide feedback on the new features.

Pharma Industry

Celgene to buy Impact Biomedicines for as much as $7 billion

U.S. pharma executives expect deals to pick up after tax overhaul

The Pharma Exec behind the First Approved Gene Therapy Is Hunting for His Next Big Break
Novartis’s retiring CEO hopes such treatments will soon be deployed against lymphoma and other cancers.


No Guts, No Glory: How Microbiome Research is Changing Medicine
Experts think the microbiome could be the key to treat all sorts of diseases. But how can we make these microorganisms collaborate with us?


Cost-effectiveness analyses of genetic and genomic diagnostic tests

ChromatinRemodeling Mutations Linked to Immunotherapy Response

Human microbiota, blood group antigens, and disease

These monkey twins are the first primate clones made by the method that developed Dolly

Liquid biopsy’ promises early detection for cancer


BGI Genomics Purchases 10 PacBio Sequel Systems
The Sequel System will allow BGI to meet the growing demand for SMRT Sequencing services for bacterial, plant, and animal de novo, transcriptomics, and epigenomics sequencing, and also in fields outside of agriculture, such as in conservation biology. Currently BGI has two Sequel Systems and an RS II Sequencing System.

Yes, They’ve Cloned Monkeys in China. That Doesn’t Mean You’re Next.
This is the first time that primates have been cloned with the same technique that produced Dolly the sheep more than 20 years ago.

Amazon’s moves in health care over the last year are finally starting to make sense
Amazon announced a partnership with Berkshire Hathaway and J.P. Morgan Chase to improve health care for employees of the three companies in the United States.

2017: The year cell and gene therapies came of age
2017 was a turning point for cell and gene therapies. The year saw three regulatory approvals, 850 companies focused on this space, and 946 clinical trials underway globally. Financings jumped from USD 4.2 billion in 2016 to USD 7.5 billion in 2017. Mergers and acquisitions also grew from USD 1.053 million in 2016 to USD 13,539 million in 2017.

Would You Sell Your DNA For Cryptocurrency?
A new startup, EncrypGen, wants to help people to sell their genetic code.


Stratos Genomics raises $20M to commercialize fast DNA sequencing technology

DNAnexus raises $58 Million in Series E to accelerate expansion

This in-demand AI genius just got $175 million from Silicon Valley’s biggest investors

Digital health investments reached record level in 2017

News for the month of December 2017

What a year! As we wrapped-up 2017, December’s precision medicine and artificial intelligence news remained impressive. The FDA approved the first gene therapy for an inherited disease – Spark Therapeutics makes Luxturna, the new treatment for childhood-blindness that is injected into the eye to repair a defective RPE65 gene. Also noteworthy in December was the release of Google’s DeepVariant tool. It is available on the Google Cloud Platform and uses the latest AI technology to analyze human genome data.

2017 was a stellar year for life science and we can’t wait to share with you what news 2018 brings!

Precision Medicine

UW, Seattle Children’s, and Fred Hutch launch $50M Institute for Precision Medicine, Using Genetics to Revolutionize Health
Co-founder Jeff Brotman & others donate $50M and launch “The Brotman Baty Institute for Precision Medicine” in Seattle.

BGI & Sanguine Join Forces to Increase Speed and Efficiency of Precision Clinical Trial Recruitment
The combined offering will allow drug developers to significantly increase the homogeneity of their trial cohorts, reducing risk and cost and increasing the likelihood of success.

Will Europe Turn a Corner in Personalized Medicine?
A massive improvement in the health of Europe’s citizens is within reach with the European Alliance for Personalized Medicine (EAPM). The European Personalized Medicine Association is planning to fund scholarships in education and training of future healthcare professionals with a focus of using diagnostics and patient engagement and empowerment centered on personalized medicine

A Research Project That Will Match Genome Information with 500,000 Blood Samples Has Been Launched in Finland
New Finnish genomics study is a first of its kind and scale.

First Gene Therapy For Inherited Disease Gets FDA Approval
This Food and Drug Administration approved Luxturna, a gene therapy developed by Spark Therapeutics, to treat an inherited form of blindness.

Artificial Intelligence (AI)

Google Released a New AI Tool, Called DeepVariant, That Makes Sense of Your Genome
New genetic sequence AI tool available on Google Cloud.

Zebra Medical Vision Offers $1 AI Medical Scans on Google Cloud
Zebra Medical Vision creates AI algorithms that can read medical images and detect anything untoward before humans.

Using AI To Make Sense Of The Human Genome
Google is tackling head-on the challenge of developing a better understanding of our genome via a new tool, called DeepVariant. It utilizes AI and aims to autonomously mutations in the sequencing data, and especially to distinguish them from random errors.

Genetic Programmers Are the Next Startup Millionaires
The big-ticket acquisition of genetic design company Cell Design Labs signals a coming wave of precision cures.

Tempus Unveils a Standalone Tool for Structuring Clinical Data at Scale
The two-year-old company recently began offering an operating system, dubbed Tempus O, designed to structure, cleanse, and annotate clinical data.

What Can Machine Learning Do? Workforce Implications
A review of AI’s economic impact.

Microsoft’s AI Chief Says the Technology Isn’t the Biggest Hurdle
AI is improving tech products — the real challenge is making sure it does so in a way that people trust.

Genomics/Genetic Testing

Biocartis and Amgen Sign CDx Development Agreement for Biomarker Tests
The aim of this agreement is to register the biomarker tests with the US Food and Drug Administration (FDA) as a companion diagnostic test for Amgen’s drug Vectibix (panitumumab).

ASCO Forms Collaboration with Two Big Data Firms to Grow CancerLinQ
The 10-year collaboration gives Tempus and PH.AI access to de-identified data of more than a 1M records in CancerLinQ.

New Genome Scores Predict Breast Cancer Odds for Any Woman
Drawing on giant population studies, the diagnostics company Myriad Genetics introduces a novel type of DNA test to predict cancer.

Agendia and Bluebee Partner to Bring New NGS-Based MammaPrint® BluePrint® Breast Cancer Kit to Market
The partnership with Bluebee enables secure global access to test results, while ensuring all data complies with local data privacy and residency regulations.


A Q&A with Vas Narashimhan Head of Global Drug Development and Chief Medical Officer at Novartis with Matthew Herper
How Novartis is using digital technologies and data to become a Drug & Data company, justifying the high cost of CAR-T treatments and other treatments.

Juno Therapeutics and Thermo Fisher Scientific Announce CAR T Manufacturing Partnership
Seven-year non-exclusive licensing and supply agreement.


Edico Genome’s DRAGEN Solution For Secondary Analysis Of Genomic Data Now Available via Seven Bridges
Edico Genome’s DRAGEN Germline V2, DRAGEN Somatic V2 and DRAGEN RNA Gene Fusion Detection Pipelines are now live on the Seven Bridges platform, enabling customers to leverage DRAGEN’s ultra-rapid speeds and accuracy.


With No Cure in Sight, CRISPR Could Offer Hope for Lou Gehrig’s Disease
Berkeley researchers aimed to knock out the mutant SOD1 gene in mice with ALS using the gene-editing tool CRISPR/Cas9.

CRISPR Might Be Able to Cure Disease, Without Changing Genes
CRISPR used not to edit genes, but to turn genes on off and on instead.

CRISPR in 2018: Coming to a Human Near You
Patients in Europe and the U.S. could be treated with CRISPR-based therapies as soon as 2018 – the first clinical trials are slated to begin.


In Vivo Target Gene Activation via CRISPR/Cas9-Mediated Trans-epigenetic Modulation

A Living Biobank of Breast Cancer Organoids Captures Disease Heterogeneity

Developing a ‘Personalome’ for Precision Medicine: Emerging Methods that Compute Interpretable Effect Sizes from Single-Subject Transcriptomes

The whole-genome panorama of cancer drivers

It’s My Heart. Why is it Not my Data?

A High-resolution Map of the Human Small Non-coding Transcriptome


List of this Year’s Breakthrough Prize Winners
Includes biologists Joanne Chory, Don Cleveland, Kim Nasmyth, Katzutoshi Mori, and Peter Wlater.

Gene-based Zika Vaccine is Safe and Immunogenic in Healthy Adults
Vaccine developed by NIH scientists shows promise in Phase 1 testing.

CVS Health to Buy Aetna for Around $69 Billion
CVS Health and Aetna have merged in a bid to reinvent health care with a vertically integrated stack of services and touch points. And now comes the hard part: Using data and analytics to really make it all work.

Is it Time to Retire Cholesterol Tests?
Rather a truer indicator of the threat to our arteries than absolute cholesterol levels, some researchers believe, is routine apoB tests.

Amazon is in exploratory talks with generic-drug makers
Amazon has talked to makers of generic drugs, including Mylan and Sandoz, about a potential entry into the pharmacy space.

Health Systems’ IT Priorities for 2018: Cybersecurity Technologies, Patient-Generated Data
The Pittsburgh-based Center for Connected Medicine surveyed IT leaders at more than 20 major U.S. health systems and found that 92% plan to increase spending technology to improve cybersecurity next year.

Podcasts For Health Entrepreneurs
Includes Mendelspod, A Healthy Dose by Oxeon Partners and Bessemer VP, The Long Run by Luke Timmerman, and more.

The Most Life-Changing Breakthroughs in Genetics of 2017
CAR T cell therapy, CRISPR-Cas9 genome editing, FDA approved the first consumer DNA tests for disease risk, and more.

FDA Publishes Draft Guidance on Investigational IVDs Used in Therapeutic Product Clinical Trials
The draft guidance is intended to inform both product sponsors and IRBs regarding the application of the Investigational Device Exemption (IDE) regulation to investigational in vitro diagnostic devices (IVDs) used in therapeutic product clinical trials.

Mergers and Acquisitions

Unstoppable Gilead Takes Out Bay Area CAR-T Biotech in $567M Deal
Gilead and its subsidiary, Kite Pharma, are buying Cell Design Laboratories.


Coimbra Genomics Raised €2.4M ($2.8M) to Accelerate the Expansion of their Digital Platform ELSIE to International Markets

Camden Partners Closes Biomedical Technology-focused Venture Capital Fund

News for the month of November 2017

Precision Medicine was center stage this November. Geisinger Medical Center is testing whether DNA sequencing can be the new routine for standard of care to US patients. In China, one million residents of the city of Nanjing will take part in a project to sequence their genomes. A massive data storage facility is being built and researchers believe the population genetics project will result in improved disease diagnosis and treatment.

Precision Medicine

Fighting Cancer One Patient At a Time
What drives drug companies to invest in markets of just a few thousand people?

Two Top Ex-Google Scientists Have Left Grail, a $1 Billion Cancer Startup
The departures come after Grail’s CEO Jeff Huber and lead scientist stepped down.

Precision Medicine: How an Evolving Definition has Helped Advance Clinical Accuracy
The term precision medicine has solidified itself as the critical descriptive concept of medicines’ future, although history tells it is hardly set in stone.

Geisinger Begins Returning Clinically Actionable Exome Sequencing Results to Patients
In an attempt to figure out how to best implement clinical sequencing within a health system, Geisinger Health System has begun returning clinically actionable results in a set of genes to patients enrolled in the MyCode Community Health Initiative.

More than 500 Geisinger MyCode participants receive clinical results from exome sequencing; most risks previously unknown
Geisinger is reaching more than 500 of its patients with clinical genetic risks through the MyCode Community Health Initiative (MyCode).

A Chinese Province Is Sequencing One Million of Its Residents’ Genomes
This project is an effort to identify population trends and the genetic basis of health disorders.

Genetics, Genomics, and Big Data in Medicine with Eric Schadt
Hidden Forces podcast exploring the information technology of biology: DNA. In other words, we explore the world of genomics. This is where big data looms large.

Precision’ Prevails Over ‘Personalized’ Medicine in New ESMO Glossary
European Society for Medical Oncology (ESMO) published a glossary designed to standardize the language in the field of Precision Medicine, and thus improve communication between oncologists, researchers and patients.

Blockchain Beyond EHRs: Transforming Value-Based Payment, Precision Medicine, Patient-Centric Care
The considerable hype around blockchain is starting to be tempered by enterprises earning practical experience and identifying worthwhile use cases for the technology.

How Pharmaceutical Firms Can Shape the Future of Healthcare
pwc report on capitalizing on precision medicine.

Artificial Intelligence (AI)

Can AI Keep You Healthy?
A Chinese entrepreneur wants to track your health data and suggest ways to improve. But are computers really smart enough to make sense of all that information?

Tedtalk: Not What but Why: Machine Learning for Understanding Genomics by Barbara Engelhardt
Why AI and Machine Learning are the right tools to solve the problems of genomics.

As the Physician Shortage Grows, Healthcare Embraces AI Technology
By 2025, the Association of American Medical Colleges predicts the shortage of physicians in the U.S. will reach an estimated 34,600 to 88,000 doctors.

Google’s New Accelerator Focuses on AI Health Startups
The scheme is aimed at fostering startup enterprises that are set to introduce technological solutions for healthcare.

How Machine Learning, Big Data, and AI Are Changing Healthcare Forever
Machine learning is improving diagnostics, predicting outcomes, and just beginning to scratch the surface of personalized care.

Genomics/Genetic Testing

Statement From FDA Commissioner Scott Gottlieb on Implementation of Agency’s Streamlined Development and Review Pathway for Consumer Tests That Evaluate Genetic Health Risks
Eases regulatory path -> the agency issued a notice of its intent to allow genetic health risk (GHR) tests to be exempted from premarket review under certain conditions.

Politically Connected Cancer Mogul Faces Questions Over His Genetic Tests
Patrick Soon-Shiong touted sales of his closely scrutinized test without revealing the purchaser was on his payroll.

Genomenon Announces First Automated, Evidence-Based Blood Cancer Panel
This new cancer panel was produced using automated machine learning techniques that mine proven disease-gene associations from millions of scientific articles.

What You Need to Know About FDA Oversight of Genomics Research
To raise awareness of the IDE regulation, ASHG hosted a policy luncheon at ASHG 2017.

FDA Opens the Doors for Consumer Genetic Testing
While this is a big step forward for consumers eager to be more engaged in managing their own health, there are reasons to keep a healthy dose of caution on hand.


Seven Bridges Leads Public-Private Partnership to Develop New Data Ecosystem for NIH
Seven Bridges will lead a team consisting of Repositive Ltd., a UK-based software company developing tools to improve access to genomic research data; Elsevier, the informatics analytics business specializing in science and health; and the Boston Veterans Affair Research Institute, which has created the Million Veteran Program, the largest genomic database in the world. Together, they are forming a private-public consortium called FAIR4CURES.

Illumina NovSeq Site List
List of Illumina NovaSeq sites based on news stories, press releases and tweets is at 45 and counting.

Cloud Computing

IBM Eases Out Bluemix Name, Rebrands All as IBM Cloud
There will be no changes to products offering as a result of this rebranding strategy.

Alibaba Says Cloud Sales Increased 99 Percent in ‘Outstanding’ Quarter
An increase to $447 million for the quarter.

CRISPR Technology

Scientists Have Used Cells as a Recording Device for the First Time
Via Temporal Recording Arrays by CRISPR Expansion (TRACE), the researchers programmed the cells to respond to a biological input by increasing or decreasing the amount of a certain piece of DNA.


Caris Life Sciences Files Patent Infringement Suit vs. Foundation Medicine
At issue are five Caris patents covering the company’s system of performing molecular profiling of tumors to identify treatment options based on groups of molecular targets not traditionally or conventionally associated with various types of cancer.

Is it time to say goodbye to ClinicalTrials.Gov?
Sean Parker: “ClinicalTrials.gov is it totally unbiased, and it is just a directory. A lot of those clinical trials are somewhere between useless and harmful. So, it is very difficult to know anything about whether you should enroll in a trial.”

A Data-Backed Look Into Silicon Valley’s Gender Equality Problem
23andMe is the most gender-balanced office with ~50% female, all other companies employ more men than women.

Singapore Wants To Add Biotech Hub To Its List Of Accomplishments
Singapore is banking on lucrative medical and pharmaceutical patents to be a new economic growth engine in the 21st century.


Universal Patterns of Selection in Cancer and Somatic Tissues

Humans Are Still Evolving — And We Can Watch it Happen

Gene Expression Map of Human Body Gives Value to Variants

The Most Popular Genes in the Human Genome

Standards and Guidelines for Validating Next-Generation Sequencing Bioinformatics Pipelines: A Joint Recommendation of the Association for Molecular Pathology and College of American Pathologists


2017 is a Record Year for VC Funding in Biotech, Genetics

These 10 Companies Received 38% of Digital Health Investment Funding in 2016

Counsyl Raises $80M

Syapse Raises $30M in Series D to Scale its Precision Medicine Program

Genialis Raises $2.3M Seed Round to Advance Visual Exploration of Genomics Data


News for the month of October 2017

Thanks to a momentous ASHG 2017 next-generation sequencing (NGS) announcements in the areas of data analysis and clinical sequencing were the highlights of October. Coinciding with the event, Edico Genome and Fabric Genomics announced their partnership for a genomics analysis solution, WuXi NextCODE shared news that Oxford Nanopore will be available in its Shanghai Laboratory, while Bluebee launched a PacBio de novo genome assembly pipeline. In clinical NGS, Rady Children’s Hospital introduced NovaSeq to speed up the time-to-result and reduce costs for their critically-ill infants. Read more ASHG related news and watch the Bill Gates & Francis Collins ASHG symposium discussing global health and genomics.


Rady Children’s Hospital introduces NovaSeq for newborn diagnoses
Rady Children’s Hospital is moving from the HiSeq 2500 to NovaSeq for whole genome sequencing (WGS) on NICU newborns and their parents to speed up time-to-diagnosis and reduce sequencing costs.

Exome sequencing improved Dx in critically ill babies
Genetic disorders due to a single gene mutation were identified in a little over a third of critically ill infants who had a portion of their DNA sequenced, a small retrospective study found.

Edico Genome and Fabric Genomics develop integrated solution for genomics analysis 
Through this partnership, users can seamlessly utilize Edico Genome’s DRAGEN™ Bio-IT platform with Fabric Genomics’ Opal™ Clinical Variant Interpretation Platform.

PacBio and Bluebee launch de novo genome assembly pipeline on the Bluebee Analysis Platform 
The integrated PacBio® de novo assembly pipeline onto the Bluebee® genomics analysis platform creates a simplified and fully automated end-to-end data analysis solution.

Illumina keeps up its winning ways thanks to NovaSeq sales growth
Illumina yet again delivered a strong quarter – highlights of the third-quarter results.

The future of DNA sequencing will be in the palm of your hand
An article by Kevin Davis discussing Illumina’s $1,000 dollar genome, Oxford Nanopore’s minION, and more.

WuXi NextCODE integrates Oxford Nanopore into the Global Platform for Genomic Data
WuXi NextCODE brought Oxford Nanopore Technologies’ sequencing technology into its Shanghai Laboratory, making it initially available to customers in China. The company’s Shanghai laboratory, which is CLIA-certified and CAP-accredited, already has a number of sequencing instruments available, including platforms from Illumina, Thermo Fisher Scientific, and Pacific Biosciences.

Genomenon announces free Mastermind Genomic Search Engine
Mastermind provides a web-based search on a full complement of medical literature comprising over 5.5 million full-text genomic articles cataloging the genetic relationships to human diseases including cancer.

iGenomX Launches Riptide™ High Throughput NGS Rapid Library Prep

Qiagen, Centogene collaborate in bioinformatics for genetic diseases

Baylor College of Medicine is pleased to announce a licensing agreement with Genialis, Inc., for its NGS data management, analysis, visualization and dissemination software

The Jackson Laboratory and Seven Bridges Collaborate to Build Centralized Data Platform to Advance Cancer ResearchNational Cancer Institute awards $2M grant to fund joint PDX data center to data platform to accelerate translational research using patient-derived tumor xenograft (PDX) datasets.

OnRamp reveals Rosalind™ Platform: a data analysis and interpretation platform

Illumina Releases NovaSeq S4 Flow Cell and NovaSeq Xp Workflow

The future of DNA sequencing

Artificial Intelligence (AI)

When two worlds collide — big pharma meets big tech
Is the traditional pharma industry about to undergo a “huge disruption?”

Why and how Amazon will disrupt and dominate health care in 2025 – Will Amazon buy Roche?
Thomas Wilckens shares his vision of healthcare and medicine in 2025. He suggests that customer & patient experiences will change dramatically due to AI, IoT, and cloud-driven disruption.

Inside Perspectives: NuMedii banking on artificial intelligence to expedite the discovery of effective new medicines
The company has efficiently extracted information from a vast array of disparate data stores to create a structured, proprietary data resource spanning hundreds of diseases and thousands of compounds.

How Artificial Intelligence is Revolutionizing Personalized Medicine

There Is No Precision Medicine Without Artificial Intelligence

The Seven Deadly Sins of AI Predictions
Mistaken extrapolations, limited imagination, and other common mistakes that distract us from thinking more productively about the future.

Precision Medicine

Q & A with Dr. Peggy Porter: Targeted breast cancer treatments require diverse research data
Breast cancer researcher discusses need to extend research and results to minority women.

4 trends in digital health to keep an eye on In 2018: digital health interventions, provider-centric solutions, big data and analytics, and new model insurance companies.

Academia dives into precision medicine, big data collaborations
University of Michigan launches campus-wide precision medicine initiative.

Physicians feel sidelined in value-based care discussion
But, doctors who feel included in the decision-making process are more likely to embrace change.

New study assesses precision medicine
This study points out that next-generation sequencing will play a large role in personalized medicine.

The Dish: Sharing your electronic health record (EHR) in respect to the all of us research program
Eric Dishman, Director of the All of Us Research Program, talks about what information is in EHRs and why these records are so important to the All of Us program.

Bending the Cost and Time Curve of Drug Development through the Use of Biomarkers

Study finds ‘Precision Medicine’ may not always be so precise

The Importance Of Data Governance In The Future Of Healthcare

Foundation Medicine Receives Approval from the State of New York for its FoundationACT Liquid Biopsy Assay

Strata Oncology, Inc. Announces Partnership with UCSF to Launch Stratify Prostate™ Initiative to Expand Access to Precision Medicine Clinical Trials for 10,000 Men with Metastatic Prostate Cancer

5 New Ways Health Care Providers Can Apply Individualized Medicine to Patient Care

The Promise of Precision Medicine

Putting the precise in precision medicine


New gene therapy treatment could hit $1M per patient because of additional costs
The therapy, a leukemia drug from Novartis called Kymriah, was approved in August with an eye-popping sticker price of $475,000 for a one-time treatment.

FDA approves second gene-altering treatment for cancer
The new therapy, Yescarta, made by Kite Pharma, was approved for adults with aggressive forms of a blood cancer, non-Hodgkin’s lymphoma, who have undergone two regimens of chemotherapy that failed.

Immunotherapy — Translating Research into Patient Outcomes

MD Anderson team selected for national push to expand immunotherapy

Fred Hutch Studies Advance Methods To Avert Toxicity That Can Accompany Immunotherapy


Second Genome launches study of the relationship between the microbiome and central nervous system in Autism Spectrum Disorders.

Breast cancer: Bacterial deficiency linked with onset

Stress caused similar changes to the gut microbiome as an unhealthy diet

Bugs picked up at birth are good for you


Broad Institute launches Merkin Institute for Transformative Technologies in Healthcare
The endeavor will fund development of technologies for diagnostics, therapeutics, and data.

Surging NYC Market Becomes Biotech Hub
NYC is in the process of undergoing a biotechnology renaissance and is quickly making a name for itself as a hub for the future development of the life sciences field.

Bill Gates & Francis Collins live symposium at ASHG – global health and genomics

The Nobel Prize in Physiology or Medicine 2017 was awarded jointly to Jeffrey C. Hall, Michael Rosbash and Michael W. Young “for their discoveries of molecular mechanisms controlling the circadian rhythm”.

Silicon Valley Is Not Your Friend

A New Drug Uses CRISPR to Fight Antibiotic-Resistant Bacteria

The cost of living with cancer can be enormous for some – eventually up to $10,000 or $15,000 a month

Thermo Fisher to Distribute Synthego Synthetic Guide RNA Products for CRISPR

EHRs are holding troves of genomic data, too bad it’s not always easily usable

How digital health can benefit medical device manufacturers

Women are underrepresented in computational biology: An analysis of the scholarly literature in biology, computer science and computational biology

National Academy of Medicine elects 80 new members


Landscape of X chromosome inactivation across human tissues
A systematic survey of XCI, integrating over 5,500 transcriptomes from 449 individuals spanning 29 tissues and 940 single-cell transcriptomes.

Biology of childhood brain tumor subtypes offers clues to precision treatments
CHOP researchers reveal differences among gene fusions in low-grade pediatric brain tumors.

Chimeric antigen receptor T-cell therapy — assessment and management of toxicities

New imaging approach reveals lymph system in brain

Reboot for the AI revolution

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

Mergers & Acquisitions

Precision for Medicine Acquires Leading Immune Monitoring And Epigenetic Technology Service Provider Epiontis

Who really owns Foundation Medicine?


Genetic testing startup Prenetics raises $40M in Series B from investors, including Alibaba’s Hong Kong fund
Prenetics plans to expand into more Asian countries.

Illumina Ventures closes First Venture Capital Fund at $230M

Salk Institute gets $25M grant for brain-mapping initiative

Eligo Bioscience raises $20 million to target the microbiome more precisely

News for the month of September 2017

AI and machine learning seemed on everybody’s mind during the month of September. Clearly, AI is strongly positioned as the game changer in the healthcare sector. Investments were large and manifolds with Tempus, Sophia Genetics, Deep Genomics, and the new MIT artificial intelligence lab raising big rounds. At the same time, concerns about AI’s readiness were voiced with IBM Watson being the poster child.

AGBT Precision Health hosted a worthwhile discussion on the best practices for returning genetic testing results in reports and highlighted the growing need for clinical geneticists.

Artificial Intelligence (AI)

IBM pitched its Watson supercomputer as a revolution in cancer care. It’s nowhere close
A STAT investigation has found that the supercomputer isn’t living up to the lofty expectations IBM created for it.

Former IBM Watson Health employee on AI: The truth needs to come out
A recent interview with a former IBM employee who worked in the company’s life sciences group shows that the hype of artificial intelligence’s impact on healthcare was felt internally too.

How the FDA Should Regulate Medical AI Systems
The FDA will face new challenges in vetting the efficacy of artificial intelligence, says WSJ Health Expert John Sotos.

‘AI Is the New Electricity’, Says Coursera Co-Founder, and Former Google and Baidu AI Researcher, Andrew Ng
Andrew Ng, co-founder of online learning platform Coursera, feels that his new course on deep learning could help people find their feet in a world driven by progress in AI.

New artificial intelligence based system to read medical images
An artificial intelligence based system called VoxelCloud can read medical images and provide insights to doctors for an accurate diagnosis. Systems have been developed for diagnosing lung cancer, retinal diseases, and coronary heart disease.

Scientists Construct First Predictive Model of Inflammatory Bowel Disease
Sema4 & Mount Sinai Health System applying cutting edge data science techniques towards improving our understanding of disease, and consequently our ability to treat it! Shout out to Eric Schadt and team

Eric Lefkofsky and Tempus: Using Data, Genetics and Precision Medicine Against Cancer

Genomics/Genetic Testing

This $25,000 life-extension test Is impressing investors but not doctors
For $25,000, Human Longevity will sell you a complete genome sequence, a full-body MRI scan, a cardio CT scan, bone densitometry, cognitive testing and more.

S.F. genetic company will retest 50,000 saliva samples after error creates false negatives for cancer gene
Invitae Corp. will retest thousands of samples and has thus far found two patients who had the wrong results.

Fabric Genomics and Genome Medical partner to help patients and clinicians better understand genetic results 
The goal is to bring expert medical interpretation and counseling around genomic data directly to physicians and patients.

FDNA teams with genetic labs to advance genetic testing for rare diseases 
Ambry Genetics, Variantyx, Fulgent, and others integrate with FDNA’s Face2Gene LABS.

Precision Medicine

University of California forms big data, precision medicine network
Five of the University of California’s precision medicine research centers have joined the new network, which will explore population health and big data analytics topics.

AGBT Precision Health panel discussion 
Returning genomic test results reveals many uncertainties.

Wanted: 1 million people to study genes, habits, and health
U.S. researchers are getting ready to recruit more than 1 million people for an unprecedented study to learn how our genes, environments, and lifestyles interact.

Intermountain Precision Genomics rolls out personalized prescriptions
RxMatch, a new service for Intermountain care providers, allows physicians to use patients’ genomics to find the right antidepressant faster than using existing trial-and-error methods.

GNS Healthcare and Swedish Cancer Institute Launch Machine Learning Collaboration to Strengthen Delivery of Precision Medicine in Breast Cancer Care

Roswell Park Cancer Institute Joins ORIEN Personalized Medicine Consortium
Roswell Park Cancer Institute has joined the Oncology Research Information Exchange Network (ORIEN), a unique research partnership among North America’s top cancer centers.

Frost & Sullivan Recognizes Sunquest for its Strides in Precision Medicine and Patient-Centered Healthcare

Successful EHR interoperability starts locally
Advisory Board Senior Vice President Rob Barras discusses the need for providers to start locally to spark interoperability while recognizing there’s no one-size-fits-all approach.

Genome sequencing and precision therapies are on the way to making cancer a manageable condition
It is suggested that as little as five years some of the worst cancers won’t be fatal conditions. Instead, what was once a death sentence could be treated as a chronic disease managed with personalized drugs that suppress the genetic switches that trigger it.

Personalized iPhone healthcare for the rest of us? Doctella has an app for that

Capitalizing on precision medicine: How pharmaceutical firms can shape the future of healthcare

Thermo Fisher opens precision medicine customer center in China


UCSF first in state to provide FDA-approved CAR-T for pediatric cancer patients
UCSF Benioff Children’s Hospital San Francisco certified as the first medical center to provide CAR-T therapy.


Earlham Institute presents sequence alignment using Optalysys’ Optical Correlator Computing System
The first release of the computing system is scheduled for early 2018.

Edico Genome’s DRAGEN now available on Illumina’s BaseSpace Sequence Hub 
Enabling users to now run DRAGEN instances to expedite their secondary analysis of next-generation sequencing data.

PacBio sues Oxford Nanopore for alleged patent infringement
PacBio filed a lawsuit against Oxford Nanopore alleging it infringes two sequencing-related patents it holds.

Exploring the Exome and the Future of Genomics with Jay Shendure
A Mendelspod interview with Jay Shendure, Professor in the Department of Genome Sciences at the University of Washington School of Medicine

New Technology to Optimize DNA Sequencing
New technology that optimizes DNA sequencing using nanophysics and electric currents have been developed by scientists.

DNAe announces pipeline of genomic-based tests for everyday workflow of physicians and hospitals 
Applications include sepsis, antibiotic resistant infections, flu and cancer


The metabolome: The missing link that binds the microbiome with human health
Researchers need to look at the metabolome to understand the dynamic relationship between the microbiome and the human body. Millions of previously unknown genes from microbial communities in the human gut, skin, mouth, and vaginal microbiome identified.

Human Microbiome Project: Millions of new genes identified
Millions of previously unknown genes from microbial communities in the human gut, skin, mouth, and vaginal microbiome identified.


Chronic cigarette smoke-induced epigenomic changes precede sensitization of bronchial epithelial cells to single-step transformation by KRAS mutations

The human microbiome: Opportunity or hype?

Going with the flow: The promise and challenge of liquid biopsies


Editorial: Taxpayers paying twice for drugs

NCI’s Douglas R. Lowy and John T. Schiller to receive 2017 Lasker Award
The two scientists will receive the 2017 Lasker Award for their significant research leading to the development of human papillomavirus (HPV) vaccines.

23andMe’s second act sits squarely in drug research and development
23andMe just raised $250M in Series F at a $1.5 billion pre-money valuation.

AACR releases 2017 cancer progress report
The AACR Cancer Progress Report 2017 provides an overview of the progress being made because of research, as well as the need for continued research innovation.

Apple is going after the healthcare industry, starting with personal health data
Apple sees healthcare and wellness as a core part of its app, services, and wearables strategies.


WuXi NextCODE completes $240 million series B financing

Gristone Oncology raises $93M in series B 

23andMe is mining your DNA for the next big drug. It just raised $250 million

Sophia Genetics raises $30 million to help doctors diagnose using AI and genomic data

IBM invests $240M in new MIT artificial intelligence lab

Deep Genomics lands $13M private financing led by Silicon Valley VC firm Kholsa Ventures

Tempus raised $70M in Series C

News for the month of August 2017

Artificial Intelligence was front and center in August’s industry news. AI’s role in patient diagnosis, drug development, and clinical trials has taken off. Meanwhile, the US and China are racing to take the lead in the space.


Artificial Intelligence (AI)

AI may just be the prescription for pharmaceutical’s future
For several years now, the pharmaceutical sector has been quietly using AI and automation technologies for clinical trials, drug analysis, and to accelerate the process of launching products.

The Great US-China Biotechnology and Artificial Intelligence Race
A conversation with Eleonore Pauwels – Director of Biology Collectives and Senior Program Associate, Science and Technology Innovation Program at the Wilson Center in Washington D.C.

Want a diagnosis tomorrow, not next Year? Turn to AI
AI as the standard of care for 30M people currently uninsured or on Medicaid in the not-too-distant future.

AI-powered healthcare platform Doc.ai comes out of stealth
The company will provide patients AI-powered conversations about their healthcare.

The AI doctor will see you now
Machine learning is being used to help recognize symptoms in patients before doctors can, a potential revolution for healthcare.



NCI study identifies essential genes for cancer immunotherapy 
Addressing the problem of why some tumors don’t respond to immunotherapy or respond initially but then stop as tumor cells develop resistance to immunotherapy.

Novartis CEO opens door to cancer patient demanding ‘fair’ CAR-T pricing
Because the treatment is personalized—immune cells are extracted from patients and engineered to recognize and kill their cancer—its impending approval has sparked concerns about just how expensive it might be.

FDA to approve Kymriah 
The first approved CAR-T cell treatment.


Precision Medicine

Precision medicine, are we there yet?
An article written by Dr. Euan Ashley, Professor of Medicine, Stanford University.

Too Many Drug Trials, Too Few Patients
With the arrival of two revolutionary treatment strategies, immunotherapy and personalized medicine, cancer researchers have found new hope — and a problem that is perhaps unprecedented in medical research.

Genomic Medicine Has Entered the Building
With game-changing promises starting to pay off, hospitals need to start preparing now for the changes genomics will bring.

A Cancer “Atlas” to Predict How Patients Will Fare
Researchers use a big-data approach to find links between different genes and patient survival.

Making the Future of Personalized Medicine a Reality
A Q&A with the President of the Personalized Medicine Coalition, Edward Abrahams, PhD.

All of Us Precision Medicine Network Expands with $13.8M in Grants


Genomics/Genetic Testing

Science Says: DNA test results may not change health habits
If you learned your DNA made you more susceptible to getting a disease, wouldn’t you work to stay healthy?

Genetic testing threatens the insurance industry
Insurers worry about adverse selection; the insured worry about discrimination.

The 5 Smartest Companies Analyzing Your DNA – MIT Technology Review
Includes 23andMe, Illumina, Sophia Genetics, Oxford Nanopore, and Veritas Genetics.


Microbes compete for nutrients, affect metabolism, development in mice
Gut bacteria get to use a lot of our food before we do.

Stanford study indicates that more than 99 percent of the microbes inside us are unknown to science
A survey of DNA fragments circulating in the blood suggests the microbes living within us are vastly more diverse than previously known.

Human genetic variation and the gut microbiome in disease
Recent microbiome genome-wide association studies reveal that variants in many human genes involved in immunity and gut architecture are associated with an altered composition of the gut microbiome.

Mergers & Acquisitions

Invitae Acquires CombiMatrix, Good Start Genetics
Invitae has agreed to acquire two diagnostics developers, CombiMatrix and Good Start Genetics, for a combined $72 million in cash and stock, in a deal designed to expand the buyer’s diagnostics offerings across all stages of life.

Gilead Sciences to Acquire Kite Pharma for $11.9 Billion 
The companies have entered into a definitive agreement pursuant to which Gilead will acquire Kite for $180.00 per share in cash.

Thermo Fisher Scientific Completes Acquisition of Patheon
Thermo Fisher acquired Patheon, a leading contract development and manufacturing organization (CDMO, for approximately $7.2 billion.


News for the month of July 2017

July was a great month for funding! Genoox raised $6M, Blueprint Genetics raised €14M, and Exosome Diagnostics raised $30M. Mark Zuckerberg and Priscilla Chan donated $10M to launch UCSF’s Institute for Computational Health Sciences to advance health using big data. Liquid biopsies, deep learning, and genomic vaccines were listed as some of the year’s top emerging technologies. Check out July’s news below and stay posted for August’s to see what else the summer has in store.

Artificial Intelligence (AI)

If you’re not a white male, artificial intelligence’s use in healthcare could be dangerous
Healthcare inequalities are systemic and closely intertwined with social inequalities.

How Alibaba Is Using Artificial Intelligence In Healthcare
Alibaba is charting a way to push the application of artificial intelligence (AI) in diagnostics and healthcare to make medical treatment more accessible, timely, and affordable. Alibaba Cloud is actively working on AI-powered solutions to tackle heath care problems in China and globally.

Study shows potential of whole genome sequencing and AI to help clinicians scale precision oncology

Is big pharma really on cusp of AI shake-out?


Digital Health

Digital Health Venture Funding Tops $4B in First Half of 2017
Includes patient engagement solutions with $684 million; data analytics with $458 million; mHealth apps at $399 million; booking at $391 million; telemedicine with $297 million; mobile wireless with $275 million and electronic medical records at $237 million.

Fitness Trackers Won’t Make You Fit. Can They Make You Well?
The race is on to come up with the next breakthrough. And this time, players much bigger than Fitbit may enter the fray. Google, Apple, and a number of pharmaceutical companies are trying to develop the next generation of wearables, which can track medical metrics in addition to fitness data.

Challenges, Opportunities of Mobile Health Devices in the Hospital
Digital health tools and data are changing how clinicians manage and coordinate care withpatients, both inside and outside the health system.

What’s needed to scale up digital health in the clinical provider space
Doctors want solutions that improve patient outcomes while simplifying workload.

The Smart-Medicine Solution to the Health-Care Crisis

Two digital health startups mark milestones to simplify medication orders

How Apple is piecing together its secret healthcare plan


Precision Medicine

Genomic testing in oncology: from single genes to whole genomes
Here’s an overview of how the field of precision medicine with genomic testing tools has rapidly evolved in the past years.

Precision medicine is growing up 
In spite of growing pains, those pioneering in the field must learn how to turn all the emerging knowledge into workable clinical and business models.

For the Cancer Moonshot, collaboration is still the number one fuel
No one company or person is curing cancer. Instead, the battle is being waged worldwide by thousands of academic labs, medical centers, government organizations, and life science companies working on everything from big data to diagnostics, clinical trials, and beyond.

Why genetic testing could become the DNA of insurance

NCI-COG Pediatric MATCH trial to test targeted drugs in childhood cancers

Companies Rush to Develop ‘Utterly Transformative’ Gene Therapies

Patient-Centered Vs. Lab-Centered ‘Personalized Medicine’

Immunotherapy / Immuno-oncology

Personalized Cancer Vaccines Look Promising in Two New Studies Vaccines tailored to the unique genetic makeup of individuals’ tumors seem to work in a handful of patients.

CAR-T Cell Therapy Is Here To Stay

NT-219 Re-sensitizes Cancer to Keytruda, Stopping Tumor Progression, Study Shows

F.D.A. Panel Recommends Approval for Gene-Altering Leukemia Treatment

Next-Generation Sequencing

NGS detects bacteria in Alzheimer’s brains

Is NGS living up to the hype?

Thermo Fisher’s Oncomine Knowledgebase Reporter Aims to Simplify NGS Analysis


Genomics/Genetic Testing

Professor Dame Sally Davies’s releases annual report which addresses the challenges arising from genomic data
Download this eighth independent annual report of the Chief Medical Officer 2016: Generation Genome.

ClinGen lists labs meeting requirements for variant quality data sharing
Includes labs such as Ambry, Counsyl, GeneDx, Illumina, Invitae, and others.

Courtagen Life Sciences Shifts Focus to its Medicinal Cannabis Genetics and Testing Business
Courtagen closes its genetic testing business.

Aetna Won’t Cover Noninvasive Prenatal Testing for Average-Risk Pregnancies
Aetna updated its medical policy for noninvasive prenatal testing this week, choosing not to cover screening for average-risk pregnancies.

Helix just launched an ‘app store’ for genetics
DNA testing startup Helix has launched an “app store” for your genetic code with a number of partners offering tests on its new platform.

Gencove is offering a $59.99 genome sequencing assay, ancestry and microbiome testing

NIH to Fund Studies Examining Implications of Genome Research


Evelo Bio Raises $50M Round to Bring Microbiome Drugs Into Trials

News for the month of June 2017

June was a big month for precision medicine. Biden’s new Cancer Initiative continues the Cancer Moonshot mission. Immunotherapy treatments are gaining steam with pembrolizumab (Keytruda) being shown effective in tumors with defects affecting the “mismatch repair” pathway. With all these discoveries and treatments on the horizon, Vinod Khosla predicts that oncologists will become obsolete as Artificial Intelligence will automate the cancer treatment decision-making process!

Artificial Intelligence (AI)

Vinod Khosla predicts AI will replace human oncologists
Khosla: AI will be “explosive,” but that progress will come at the expense of other key problems.

AI is already beating us at our own game
AI systems are already outpacing the intellectual capabilities of their creators in a wide variety of fields.

Sophia artificial intelligence empowers liquid biopsy to fight cancer

Precision Medicine

Biden’s Cancer Initiative Continues “Moonshot” Mission
The Initiative aims to help drive new actions and collaborations toward the ambitious goal of ending cancer.

70% of Orgs Planning Precision Medicine Will Deploy Within 2 Years
Precision medicine is advancing quickly, with the majority of interested organizations planning to launch programs within the next two years.

The Biobanking Boom
An interview with Dr. Alissa Resch, Director, Biobanking Operations at Coriell Institute for Medical Research discussing key drivers, ethical issues, and new emerging trends in the biobanking space.

What are some misunderstood complexities of bringing clinical studies to patients’ homes?
Explores the key drivers of direct-to-patient (DTP) services and makes recommendations on how to simplify execution and bring about benefits to patients participating in – and companies running – clinical trials.

Big Data Integrity Needed to Use Genomics for Care Coordination
Genomic data will only be able to improve care coordination and personalized medicine if the industry can develop the big data integrity and analytics capabilities to ensure sharing across the care continuum.

Why gathering genetic data could mean a whole world of pain
Google-backed 23andMe announced it would be enlisting the help of 20,000 volunteers – along with German pharma company Grünenthal – to carry out a major new study of the genetics of pain.

The CEO of Children’s National Health System on Leadership, Innovation, and Delivering Specialized Care
Dr. Kurt Newman on the advantages and challenges of specialized children’s hospitals.

Routine DNA Sequencing May Be Helpful And Not As Scary As Feared

Machine Learning And The March Towards Precision Medicine

Next-Generation Sequencing

Reporting practices for unsolicited and secondary findings from next-generation sequencing technologies: Perspectives of laboratory personnel
This study highlights that laboratories are still grappling with decisions about which UF to report from NGS and are calling for more guidance.

Genomics England Adopts Illumina’s BaseSpace Variant Interpreter for Cancer
In the coming months, Genomics England will be expanding the use of BaseSpace Variant Interpreter for cancer to all NHS Genomic Medicine Centers, and Illumina will be removing the ‘Beta’ status from its software offering, and formally launching it for public release later this summer.

DNAnexus Launches Novel Platform for Human Microbiome Research

Illumina Announces FDA-approved Next-Generation Sequencing Cancer Companion Diagnostic Test Kit

Digital Health

Fostering Medical Innovation: A Plan for Digital Health Devices
New FDA Commissioner, Gottlieb, sets out a plan for regulating digital health technology which intends to foster innovation and help the agency to devote more resources to higher risk priorities.

An overview of Apple’s healthcare operations
An overview of Apple’s healthcare operations, including FDA-cleared devices, wearable glucometer, health-related acquisitions, and more.

The consumerization of healthcare


Precision Oncology: Gene Changes Predict Immunotherapy Response
Promising news from pembrolizumab clinical trial, which was expanded to include 86 adults with 12 different types of mismatch repair-deficient cancers that had been previously treated with at least one type of standard therapy.

Cancer drug proves to be effective against multiple tumors
The FDA approved pembrolizumab, brand name Keytruda, for patients whose cancers arise from the same genetic abnormality.

Checkpoint inhibitors flourish

Immunotherapy takes on tumors that can’t fix DNA

Genomic/Genetic Testing

Mt. Sinai Spinout Sema4 Aims to Expand Genomic Testing; Sees Future in Data Science
Mount Sinai Health System has spun out several genetic testing and data sciences components into a private company.

New concerns raised over value of genome-wide disease studies
Large analyses dredge up ‘peripheral’ genetic associations that offer little biological insight, researchers say.

FDA Approves First Companion Diagnostic Test to Simultaneously Screen for Multiple Non-Small Cell Lung Cancer Therapies
Oncomine Dx Target Test (Thermo Fisher Scientific) is now FDA approved to help physicians develop treatment plans for lung cancer.

Agendia’s MammaPrint® Now Included in Blue Shield of California Coverage for Breast Cancer Patients

Would you pay $6400 for the mother of all genetic tests?

Cloud Computing

Cloud Computing Companies Move Into Medical Diagnosis (GOOG, IBM)
Google is gearing up to provide “Diagnostics-as-a-Service” capabilities through its cloud division.

Amazon still dominates cloud computing as Microsoft and Google struggle to catch up
Amazon Web Services Inc. has retained an impressive lead in Gartner Inc.’s latest Magic Quadrant for Cloud Infrastructure as a Service.


Ambry Genetics to cut nearly 100
Ambry Genetics is exploring possible sale following a period of dramatic growth

The Man Behind San Diego’s $26 Billion Company
Will Illumina’s new hotshot CEO, Francis deSouza, be able to lead the San Diego genomics giant into the complex world of clinical care?

How Boston Became ‘The Best Place In The World’ To Launch A Biotech Company
It all started at a City Council meeting in the 1970s.

Guardant sues Foundation Medicine over false advertising
Guardant sues FMI for false and misleading statements in its advertising about the accuracy of Guardant360.

George Church receives Mendel Award at ESHG 2017 – Mendel Lecture

NIAID scientists discover rare genetic susceptibility to common cold

CRISPR Platform Scans DNA to Predict Off-Target Effects


More than 18,000 Genomic Records from Cancer Patients Available

An Expanded View of Complex Traits: From Polygenic to Omnigenic

Microbioal genetic composition tunes host human longevity

New concerns raised over value of genome-wide disease studies

One in five ‘healthy’ adults may carry disease-related genetic mutations

Wide-Open: Accelerating public data release by automating detection of overdue datasets

Mergers and Acquisitions

Eurofins acquires GATC in Germany & Genoma Laboratory group in Italy

Invitae Acquires Ommdom’s CancerGene Connect


Navican Genomics raises $15M in series A to commercialize TheraMap & expand precision medicine cancer care offering

Twist Bioscience Raises Additional $27M in Series E Venture Capital Funding – has by now raised a total of $193M

Swift Biosciences raises $12.2M in Series D -> Launches Next Phase of Company Growth and Expansion

Centogene raises 25M euros in Series A – will use funds for biomarker & companion diagnostics development

CellMax Life Receives NT$23M Grant From Taiwan Government for Cancer Early Detection Test

SerImmune Inc. Raises $8M to Map the Human Antibody Repertoire

ASCO 2017

Web-Based System for Self-Reporting Symptoms Helps Patients Live Longer

ProfiLER Study Demonstrates Importance of Genomic Testing for Precision Medicine

Illumina and American Society of Clinical Oncology, Inc. Jointly Donate Thousands of Somatic Interpretations to CIViC to Advance Genomic Medicine

ASCO expands TAPUR Sites: Inks collaboratioon to investigate precision oncology globally

News for the month of May 2017

May’s news was full of the hopes as well as the challenges for precision medicine and next-generation sequencing. New partnerships, ventures and funding rounds are rapidly driving the industry forward. However, clinicians are still wondering how long it will be before the benefits of NGS and personalized medicine outweigh the costs.

Next-Generation Sequencing

Pocket-sized sequencers start to pay off big
Portable sequencers are opening up genomics to remote locations such as the Antarctic. Oxford Nanopore hints that smart phone powered sequencers are on the horizon.

Illumina plans to expand its operation in China after recording high double-digit growth in the past two years.

Integrated DNA Technologies partners with Illumina
The partnerships aims to deliver robust multiplexing capabilities and streamline target enrichment methods.

Repositive launches Personal Genome Project data collection
Repositive is expanding the range of data available with the launch of a Specialist Data Collection for the Personal Genome Project.

Bluebee and Medisapiens Announce Strategic Partnership
The combined partnership is offering an integrated end-to-end NGS analysis and interpretation solution for clinical and research applications.

See our Bio-IT World 2017 conference wrap up Bio-IT 2017 – Data Security, Data Sharing, Data Access, Data Integration, Data…. with a summary of industry and next-generation sequencing news coinciding with the event which includes news from the Broad Institute, DNAnexus, Edico Genome, Illumina, SolveBio, and other companies.

Precision Medicine

When Even Genome Sequencing Doesn’t Give a Diagnosis
The technology has been touted as a powerful diagnostic tool, but it doesn’t provide answers to everyone.

In an Era of Precision Medicine, Testing New Approaches to Breast Cancer Screening
Trying to move precision medicine in the arena of breast cancer screening, a new trial aims to recruit 100,000 women.

This $25,000 physical has found some ‘serious’ health problems. Others say it has serious problems
Craig Venter’s “latest venture – a subsidiary called Health Nucleus based in San Diego, California – says it can detect undiagnosed health problems by combining DNA analyses with a $25,000 workup including a whole-body MRI scan, metabolomics screening, 2 weeks of constant heart monitoring, pedigree analysis, microbiome sequencing, and a glut of standard laboratory tests.”

Liquid Biopsies Remain Wait and See for Some Clinicians
Clinicians are starting to become aware of the advantages liquid biopsy offers, but they still have reservations. They will not fully accept liquid biopsy until they see substantive demonstrations that the sample-collecting method offers unique benefits to patients, without depriving them of any of the benefits that are already available with traditional biopsy techniques.

Q&A With Daryl Pritchard, PhD, of the Personalized Medicine Coalition
An interview with Daryl Pritchard, PhD, vice president for Science Policy at the Personalized Medicine Coalition, on the FDA’s drug approval process, developments in the personalized medicine field, and reimbursement models that integrate diagnostics.

Denmark Launches National Genome Center and Personalized Medicine Initiative for Improved Healthcare for Danish Citizens
The Danish government will spend about $14.2M over the next three years on expanding personalized medicine and genomic data into electronic medical records, and establishing a national genome center.

How Penn Medicine primed its IT infrastructure for precision medicine
An interview with Brian Wells, Penn’ associate vice president of health technology and academic computing, who explains some of the technology innovations Penn Medicine has made as it works to improve integration with its electronic medical record and use of analytics tools to mine unstructured data to offer real-time decision support.

Artificial Intelligence (AI)

Hospital uses AI to embrace clinical genomics
“Artificial intelligence (AI) is able to sift and analyze vast amounts of genomic data, thereby enabling clinical scientists to better diagnose patients.” Jurgi Camblong, CEO of Sophia Genetics, explains how this has helped doctors working in the genetics department at a major London teaching hospital.

Sophia Genetics announced release of Whole Exome Solution (WES) and Clinical Exome Solution (CES)
Based on pattern-recognition technologies, SOPHiA features a database search engine for the identification and retrieval of matching variants regardless of their representations, alignment, or complexity.

Other News

Senate Confirms Scott Gottlieb to Head F.D.A.

Bio-IT World Launched First Hackathon with focus on FAIR data, data that are findable, accessible, interoperable, and reusable

Changes in NIH Grant Policy?

CRISPR kills HIV and eats Zika ‘like Pac-man’. Its next target? Cancer

China Pushes Ahead With Human Gene-Editing Trials

Trump Calls for 18 Percent Cut to NIH Budget in FY 2018

The FDA is going digital

23andMe Is Making Its First Foray into At-Home Research, to Study Pain


Open sharing of genomic data: Who does it and why?

Guidelines for Validation of Next-Generation Sequencing–Based Oncology Panels

Associations of Luminal and Basal Subtyping of Prostate Cancer With Prognosis and Response to Androgen Deprivation Therapy

Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource

Mergers & Acquisitions

GRAIL merges with Cirina
This business combination will focus on early cancer detection and allows GRAIL to expand its ability to make an impact globally.


Edico Genome raises $22M in Series B
Edico Genome raises $22M in Series B from Dell Technologies Capital for software development, sales, and marketing. The company plans to grow to 60 employees by end of 2017.

BC Platforms raises $10M in Series B
BC Platforms Closes USD $10 million Series B Financing led by Debiopharm and Tesi to accelerate knowledge platform development.

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