Microbiome

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

CRISPR

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

Miscellaneous

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

Publications

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

Funding

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 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

NGS/Genomics

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

CRISPR

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

Blockchain

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

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

Miscellaneous 

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

Publications

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.

Funding

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?

NGS/Genomics

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

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.

Blockchain

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

Immunotherapy

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

Microbiome

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

Miscellaneous

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

Publications

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

Funding

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.

NGS/Genomics

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.

CRISPR

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?

Miscellaneous

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?

Blockchain

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.

Microbiome

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

Publications

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

Funding

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.

NGS/Genomics

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

Microbiome

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

CRISPR’s MAGESTIC Evolution Makes Gene Editing More Precise

Miscellaneous

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

Publications

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

Funding

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.

Acquisitions

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?

NGS/Genomics

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

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.

Miscellaneous

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

Microbiome

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

Publications

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

Funding

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.

Other

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

NGS

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.

Blockchain

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

Miscellaneous

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

Publications

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

Funding

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.

Blockchain

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.

NGS

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.

Miscellaneous

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.

CRISPR

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

Publications

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

Funding

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.

NGS

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.

Microbiome

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?

Publications

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

Miscellaneous

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.

Funding

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.

Immunotherapy

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.

NGS

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.

CRISPR-Cas9

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.

Publications

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

Miscellaneous

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.

Funding

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
A 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.

NGS

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.

Miscellaneous

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.

Publications

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

Funding

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