Find here a listing of the latest industry news in genomics, genetics, precision medicine, and beyond. Updates are provided on a monthly basis.
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News for the month of December 2019
As 2019 came to an end, Veritas Genetics struggled to get funding due to concerns it had previously taken money from China. It was forced to cease US operations and is in talks with potential buyers. The GenomeAsia 100K Project announced its pilot phase with hopes to tackle the underrepresentation of non-Europeans in human genetic studies and enable genetic discoveries across Asia. In funding news, FDA Awards DNAnexus with Five-Year, $20 Million Contract to Power precisionFDA Collaborative Omics Environment FedRAMP and in the Cloud.
This December news update has been sponsored by:
Genetics/ Genomics Testing
Veritas Genetics, the start-up that can sequence a human genome for less than $600, ceases US operations and is in talks with potential buyers
Veritas Genetics ceases US operations but will continue Veritas Europe and Latin America. It had trouble raising funding due to previous China investments and is looking to be acquired.
NanoString announces exclusive license of nCounter Diagnostic assets and rights to Veracyte for $60M
NGS/ Genomics
Illumina loses DNA sequencing patents
The European Patent Office has destroyed several patents belonging to Illumina.
FTC files complaint to block Illumina from buying PacBio
The FTC said it also authorized the filing of federal court actions to request a temporary restraining order and a preliminary injunction if needed to prevent the companies from closing the deal.
Drug discovery gains powerful single cell transcriptional profiling tool
A new technique, sci-Plex, uses nuclear hashing to profile and quantify gene expression in single cells in response to thousands of independent perturbations at single-cell resolution. The technology holds promise for drug discovery of drugs for cancer, infection, prenatal medicine, and other research.
Precision Medicine
The GenomeAsia 100K project enables genetic discoveries across Asia
This publication describes the pilot phase of the GenomeAsia 100K Project which includes a whole-genome sequencing reference dataset from 1,739 individuals of 219 population groups and 64 countries across Asia with a catalogue of genetic variation, population structure, disease associations and founder effects.
DNA-based medicine needs more diversity to avoid harmful bias. One big research project is fixing that
That is where the All of Us Research Program comes in and hopes to help.
Over 44,000 AACR Project GENIE cases available in the GDC
The NCI’s Genomic Data Commons (GDC) has released data for 44,756 cancer cases from AACR’s Project Genomics Evidence Neoplasia Information Exchange, more simply known as AACR Project GENIE.
CVS Health announces precision medicine program for oncology
A precision medicine program that uses genomics at the point-of-prescribing to help patients start on the best treatment faster.
Amazon and Apple will be our doctors in the future, says tech guru Peter Diamandis
Diamandis makes the case for why he believes big tech companies are going to be running healthcare by 2030.
General Practice patients to be offered whole-genome screening in UK-first study
Some one thousand GP patients in London will have their genomes screened to assess the feasibility of testing for faulty genes that increase the risk of cancer and heart disease.
Abu Dhabi Population Genomics Project to Use Oxford Nanopore’s PromethION
During the first phase of the Population Genome Program, the genomes of 100,000 individuals will be sequenced.
Intermountain launches Pediatric Precision Medicine Center
ArcherDX Announces Partnership with Illumina to Develop In-Vitro Diagnostic Tests
Selection of Dr. Joshua Denny as CEO of the All of Us Research Progra
Eric Dishman will become Chief Innovation Officer, leveraging his prior experience in Silicon Valley to guide strategic planning efforts and build a culture of innovation.
As Use of Genomic Data Expands in Cancer Care, Patients Share Their Stories
The expanding use of genomic tests has raised questions about the risks and benefits of sharing personal genomic data.
Project Will Map Genome of 15 Thousand Brazilians
Partnership brings together universities and companies; chosen are public servants of ongoing study
What we’ve learnt from building Africa’s biggest genome library
Researchers developed a rich, diverse resource using genome wide data from 6,400 Ugandans – the Uganda Genome Resource. It included whole genome sequencing of nearly 2,000 people.
Intermountain Healthcare Selects Pieriandx Clinical Genomics Solution
Pharma
Merck to buy cancer drug developer ArQule for $2.7 billion
The lead new drug candidate under development by ArQule, called ARQ 531, is a potential treatment of B-cell malignancies including relapsed or refractory chronic lymphocytic leukemia.
Data Sharing/ Data Privacy
Hospital execs say they are getting flooded with requests for your health data
Some health system execs say they’re overwhelmed by the deluge of requests.
A picture is worth a thousand base pairs
UCSC and Ensembl allow researchers to share data sets as tracks in a public, centralized database that is controlled by others and available to any user of that database.
NHS gives Amazon free use of health data under Alexa advice deal
Artificial Intelligence
VA creates National Artificial Intelligence Institute to advance R&D
The Department of Veterans Affairs is centralizing the agency’s efforts to advance its artificial intelligence research and development capabilities.
Mayo Clinic taps Boston health tech leader to guide data strategy
On the heels of forming a new partnership with Google (GOOGL), Mayo Clinic announced it has hired Dr. John Halamka — a Harvard professor and hospital IT veteran — to guide its efforts to apply artificial intelligence to vast stores of data from patients and devices.
Microbiome
Bankrupt uBiome preliminarily sells patents for 1% of the poop-testing startup’s original valuation
Link found between the gut microbiome, host genome, and RA in Japanese population
CRISPR
China’s CRISPR babies: Read exclusive excerpts from the unseen original research
He Jiankui’s manuscript shows how he ignored ethical and scientific norms in creating the gene-edited twins Lulu and Nana.
Miscellaneous
Do you trust Jeff Bezos with our life? Tech Giant’s like Amazon are getting into the health care business.
Amazon is positioning itself to move into health care in a big way. Experts think the $230-billion-in-annual-revenues retail giant is preparing to launch a service aimed at bringing nearly all health care together in a single, user-friendly app with all the convenience and pricing-transparency of its online store.
Google is not looking to revolutionize health care. It is just wants to improve on the status quo.
Alphabet, the parent company of Google, is betting on health care with these initiatives and subsidiaries the company has formed or acquired: Verily (new technologies for diagnosing, managing and treating diseases), Google Fit (tracking and encouraging healthier lifestyles), Calico (research aimed at treating and even slowing aging), DeepMind Health (applying AI to health and health care), Senosis (turning smartphones into health monitors) and the recently acquired Fitbit (activity tracking).
Key suppliers of electronic medical records ‘need to be more interoperable’
Researchers at the Institute of Global Health Innovation at Imperial College London examined inconsistencies with electronic medical record (EMR) systems across 152 acute hospital trusts in NHS England over a one-year period.
Harvard geneticist George Church’s goal: to protect humans from viruses, genetic diseases, and aging
The 60 Minutes interview with George Church.
New database catalogs variants in autism genes
Complex Research Calls for Sophisticated Biobanking Tools
New ideas about biobanking lead to technological upgrades in specimen collection, isolation procedures, and data management
Publications
Plasma protein patterns as comprehensive indicators of health
This proof-of-concept study demonstrates that protein expression patterns reliably encode for many different health issues, and that large-scale protein scanning coupled with machine learning is viable for the development and future simultaneous delivery of multiple measures of health.
Origin of Childhood Brain Tumors Discovered
Stalled development of progenitor cells in the pons and forebrain –> result is the Peter Pan Syndrome wiith cells being stuck in time unable to age and which causes these tumors.
The functional landscape of the human phosphoproteome
The human phosphoproteome contains 119,809 human phosphosites. >97% have no known function. Re-analysis of thousands of phosphoproteomics datasets with machine learning predicts functional relevance.
EPFL researchers have developed Big Data tools for identifying new gene functions in the dark genome
A DNA-of-things storage architecture to create materials with embedded memory
Ten-Hour Time-Restricted Eating Reduces Weight, Blood Pressure, and Atherogenic Lipids in Patients with Metabolic Syndrome
In a small study in people with metabolic syndrome for 12 weeks
Looking forward 25 years: the future of medicine
Leaders & experts in the field discuss what will shape the next 25 years of medical research – includes gene therapy, single blood test for various diseases, precision medicine to take center stage, health infrastructure-based on deep, longitudinal, multimodal human data and AI, and healthier aging.
Mergers, Partnerships, and Acquisitions
Scripps Research, AbbVie expand collaboration beyond cancer
Scripps’ integrates digital and precision medicine expertise with AbbVie’s drug R&D expertise in an expanded collaboration designed to develop new treatments for disease areas that include oncology, immunology, neurology and fibrosis.
Funding
FDA awards DNAnexus with five-year, $20 million contract to power precisionFDA collaborative omics environment FedRAMP in the cloud
DNAnexus, with partner Deloitte, LLC, will use its FedRAMP-authorized platform-as-a-service to enhance precisionFDA capabilities for sponsor-reviewer interaction, add support for multi-omics, and provide a library of analytical, statistical, and machine learning applications, accessible to reviewers and for bioinformaticians.
BC Platforms closes $15 million Series C financing and signs partnership with IQVIA to extend data analytics in genomics
Will use the fundraising proceeds to expand its global network of clinical and genomics data, delivering novel automated solutions to pharmaceutical companies.
ArcherDX announces close of $55 million Series C financing
News for the month of November 2019
Precision medicine and data privacy took center stage in November. The NIH released its draft NIH Policy for Data Management and Sharing and Supplemental Draft Guidance. Ascension and Google announced that they are working together on healthcare transformation. However, this effort by Goggle to collect health data on millions of Americans triggered a federal inquiry. A potentially massive acquisition was also announced this month. Thermo Fisher has approached Qiagen about a possible purchase.
This November news update has been sponsored by:
Genetics/ Genomics Testing
Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG)
This document serves as a technical standard for laboratories designing, offering, and reporting gene panel testing.
FDA hands Vela Diagnostics De Novo Designation for HIV-1 assay
Activists are fighting to lift the ongoing ban on DNA kits in France
France has continued to ban people from ordering commercial DNA kits as part of the country’s Bioethics laws.
DNA testing startup Veritas Genetics confirms data breach
Artificial Intelligence
Top Democrat wants big AI push
The top Democrat, Charles Schumer (NY), wants the government to create an agency that would invest $100 billion over 5 years on basic research in artificial intelligence (AI).
When tech and biotech VCs agree: Platform companies and AI drug discovery
In their cogent and insightful discussion about the different perspectives of Tech and Biotech investors, Drs. Shaywitz and Gibson make the implicit assumption that AI will be considered unproven by Biotech investors until assets picked by machines make it through clinical trials.
A bold prediction: Machine learning will yield new drug candidates within three years
An explosion of biological data will lead to the first drug candidates discovered by an artificial intelligence system within the next few years, a feat that promises to change the way pharmaceutical companies conduct research.
NGS/ Genomics
Illumina’s response to notice of possible remedies
Illumina’s response and suggested remedies to CMA’s recent findings that their acquisition of PacBio would be anti-competitive was published on the CMA website.
10x Genomics debuts gene expression mapping tech
It is now shipping the new Visium Spatial Gene Expression Solution.
China’s Genetics giant wants everyone to live to at least 99
Agilent and MGI agree to collaborate to promote deep integration of laboratory information system and sequencing platform
Thermo Fisher’s automated sequencer to offer same-day, pan-cancer test results
Data Sharing/ Data Privacy
Your DNA profile is private? A Florida judge just said otherwise
Privacy experts say a warrant granted in Florida could set a precedent, opening up all consumer DNA sites to law enforcement agencies across the country.
NIH releases draft NIH policy for data management and sharing and supplemental draft guidance
It would require all scientists to develop a plan for managing and sharing research data as a condition of receiving a piece of the agency’s $32 billion in grant funding.
Startup seeks to hold doctors, hospitals accountable on patient record requests
With few exceptions, federal law requires that health care providers make copies of medical records available within 30 days after patients request them and, when possible, in the format they desire. Under California law, providers have 15 days to hand over the records if they are being sent directly to the patient. Yet ~51% are noncompliant or required significant intervention to comply in providing the data. Ciitizen is aiming to change that.
Precision Medicine
Ascension and Google working together on healthcare transformation
New capabilities include: (1) Streamlining consumers’ engagement, (2) Improving the caregiver experience with technology and arming caregivers with insights that allow them to better predict and manage patient needs, and (3) Improving the efficiency of Ascension’s technology operations.
Google’s ‘Project Nightingale’ triggers federal inquiry
At least 150 Google employees had access to patient data – Google said it’s adhering to regulatory standards, such as HIPAA.
Regulators begin probe into Google-Ascension cloud computing deal
All children will be able to receive whole genome sequencing at birth, under ambitions laid out by the Health Secretary Matt Hancock
The same steps are planned for adults with certain rare diseases and hard-to-treat cancers, with ambitions to sequence 5 million genomes in the UK within five years.
Mount Sinai to deploy new supercomputer, integrating research with clinical data
Supports researchers to explore more complex scientific questions more quickly once the New York City health system builds its second “Big Omics Data Engine” (BODE 2) supercomputer, to be funded through a $2 million grant awarded by the U.S. Department of Health and Human Services.
Practicing precision medicine from 700 trillion points of data
Atul Butte on “What role data can play in reducing unwarranted variations?”
Sequencing the genome of every UK baby would be an ethical minefield
Plans for the National Health Service to sequence the DNA of every baby born in the UK, starting with a pilot scheme of 20,000 children, were announced by health minister Matt Hancock this week. It sounds like the UK is leading the way in high-tech healthcare – but doctors are saying the idea is ethically questionable.
Immunotherapy
Prostate cancer bone metastases thwart immunotherapy by producing TGF-β
MD Anderson researchers find abundant cytokine crowds out helper T cells crucial to treatment.
Nobel Prize-winning researcher: The future of immunotherapy for cancer treatment
Genetic diversity impacts efficacy of cancer immunotherapy
Pharma
Cancer registry joins with big pharma to create clinico-genomic dataset
The American Association for Cancer Research and nine biopharmaceutical companies have teamed to collect and share clinical and genomic data in order to advance precision oncology.
GSK must continue to improve R&D, says CEO Walmsley
CRISPR
CRISPR’s unwanted anniversary
A year ago He Jiankui announced that he had broken the basic medical mantra of “do no harm” by using CRISPR-Cas9 to edit the genomes of 2 human embryos in the hope of protecting the twin girls from HIV.
Miscellaneous
Former Google CEO Eric Schmidt talks synthetic biology
A wide-ranging conversation centered on the intersection of synthetic biology and digital technology. The full-length video can be found on SynBioBeta.
Sanofi to assimilate Aetion’s real-world data platform into its own
Sanofi is launching a companywide project to incorporate its real-world data platform with Aetion’s analytics system to better develop studies capable of standing up to regulatory requirements.
Publications
Widespread misinterpretation of gene expression data due to frequent technical bias in data generated by RNA-seq technology
Prevalent sample-specific length effect that leads to a strong association between gene length and fold-change estimates between samples.
Mergers, Partnerships, and Acquisitions
Thermo Fisher considers buying $8 billion diagnostics firm Qiagen
This could become one of its biggest-ever acquisitions. Thermo Fisher’s largest acquisition was its $15B purchase of Life Technologies in 2014.
Novartis reaches $9.7 billion deal to buy cholesterol drugmaker Medicines Co.
Funding
X-37 raises $14.5M in Series A to expand on AI-powered drug discovery
Merck, BMS chip in to PathAI’s series B, bringing total to $75M
News for the month of October 2019
In October, the 2019 Nobel Prize in Physiology or Medicine was awarded to William G. Kaelin Jr., Sir Peter J. Ratcliffe and Gregg L. Semenza for their discoveries of how cells sense and adapt to oxygen availability. This may advance development of treatments for anemia, cancer, and many other diseases.
In the health and fitness tracking space, Google pit itself against the AppleWatch by making an offer to buy Fitbit. Previously, Google has licensed its Wear operating system to companies such as Fossil but does not currently make its own smartwatch.
This October news update has been sponsored by:
Genetics/ Genomic Testing
Verily, Alphabet’s other money-making, non-Google business, partners with Color on genetic analysis
Color, the genetics testing company, is partnering with Alphabet’s health technology-focused subsidiary, Verily Life Sciences, to provide to the company’s Baseline Health Study participants information from its genetic tests.
Genetic testing kits ‘may wrongly reassure those at risk of cancer’
A study performed by Invitae, and presented at ASHG 2019, revealed that tests for breast and bowel cancer risk by direct-to-consumer companies such as 23andMe give negative results to the vast majority of those carrying DNA mutations in the genes under investigation.
Veritas Genetics drops its price for clinical-grade whole-genome sequencing to $599
Artificial Intelligence
In AI we trust? The future of genomic medicine high-performance precision medicine requires high-performance computing
Brendan Frey, CEO and co-founder of Deep Genomics: “The problem is our current inability to connect genotype to phenotype in an explanatory way that is reliable, scalable, and trustworthy.”
NGS/ Genomics
Is Qiagen’s stumble an opportunity for investors?
The company announced a new collaboration with Illumina to develop and market tests for clinical applications, the upcoming third quarter earnings will be below the company’s prior guidance due to slower than expected revenue growth in China, the discontinuation of GeneReader, and its CEO is stepping down.
MGI launches first “benchtop” sequencing laboratory and automation products
The product line includes the portable “express” sequencing system DNBSEQ E series, the modular “digital biolab” DNBelab D series for use with the sequencing system, and a new single “cell” DNBelab C series, a handheld single-cell laboratory that can fit into a pocket.
BGI has filed a patent infringement counterclaim against Illumina
10x Genomics to pay $25M, cross-license patents to end BD infringement suit
Additionally, 10x will pay BD $25 million over four years, or $6.25 million per year, beginning in January 2020.
New human reference genome resources help capture global genetic diversity
Findings Reported at ASHG 2019 Annual Meeting.
Immunotherapy
Cancer Immunotherapy: Getting Better with a Little Help from Helper T Cells
Although killer T cells have attracted more attention from researchers, helper T cells are entering the spotlight, too.
Immunotherapy for Melanoma
This still-evolving treatment shows survival gains for patients with advanced melanoma skin cancer.
Pharma
In shocking reversal, Biogen to submit experimental Alzheimer’s drug for approval
Biogen to resurrect the Alzheimer’s drug aducanumab that the company previously said had failed and will ask the FDA to approve it.
Forensic NGS
Othram launches forensic genealogy service for law enforcement
This completes Othram’s full-service forensic DNA sequencing program enabling law enforcement agencies to work with a single vendor to extract, enrich, test, and analyze DNA not amenable to other approaches. Read our interview with Othram’s CEO David Mittleman.
Microbiome
Vulnerability of the industrialized microbiota
Processed food consumption, industrial advances including antibiotics, and a highly sanitized environment have been shown to influence the microbiota composition and transmission with detrimental consequences.
CRISPR
Scientists create new, more powerful technique to edit genes
The new technique, called prime editing, is designed to overcome some of the limitations of CRISPR – this new way to edit DNA appears to make it even easier to precisely and safely re-write genes.
Precision Medicine
Alphabet’s Verily partners with two health systems to experiment with ways to improve patient outcomes
Verily is now working with Atrius Health and Palo Alto Veterans Affairs in the fast-growing area of population health. The Alphabet affiliate is partnering with health-care groups that are moving from fee-for-service models to systems that encourage providers to keep patients healthy and out of the hospital.
Jefferson Health combines genomics, population health to enhance employee wellness
Within the 1st year 30% of all employees joined the program. Color is the partner in this endeavor.
Miscellaneous
The Nobel Prize in Physiology or Medicine 2019
The Prize is jointly shared by William G. Kaelin Jr., Sir Peter J. Ratcliffe and Gregg L. Semenza for identifying the molecular machinery that regulates the activity of genes in response to varying levels of oxygen.
Google parent Alphabet makes offer to buy Fitbit
The deal would make Alphabet a player in the wearable fitness tracking space, competing against the likes of Apple, which recently released a new version of its popular smartwatch. Google licenses its Wear operating system to companies such as Fossil but does not currently make its own smartwatch.
Trump set to nominate MD Anderson’s Hahn as FDA Commissioner
Human reference genome doesn’t capture full genetic diversity
A new study has identified more than 61,000 novel genetic sequences across 1,000 Swedish genomes that are absent from the human reference genome.
Repositive launches world-leading directory of preclinical cancer models on Science Exchange
Repositive’s Cancer Models Directory catalogues the metadata for over 5,300 PDX and CDX models, syngeneic and humanised mouse models, GEMMs, cell lines, and organoids from specialist oncology CROs around the world.
25% of healthcare spending is waste
The U.S. spends more on healthcare than any other country in the world, but a big chunk of that spending can be considered waste, according to new research published in JAMA. S whopping 25% of spending in the U.S. healthcare system is considered waste, coming in at a range from $760 billion to $935 billion. Reducing that waste could save between $191 billion and $282 billion.
NIH Director Francis Collins lays out his vision of the future of medical science
In this Time magazine article he discusses precision medicine, the All of Us research program, the need for genetic diversity, human longevity, the CRISPR technology, immunotherapy, and more.
Facebook unveils its first foray into personal digital healthcare tools
Publications
The GTEx Consortium atlas of genetic regulatory effects across human tissues
The Genotype-Tissue Expression (GTEx) project was established to characterize genetic effects on the transcriptome across human tissues, and to link these regulatory mechanisms to trait and disease associations.
New study uncovered a chromosome-wide mechanism that keeps the gene expression of sex chromosomes in balance in our cells
Deep neural networks improve radiologists’ performance in breast cancer screening
Pan-cancer whole-genome analyses of metastatic solid tumors
The largest pan-cancer study of metastatic solid tumor genomes, including whole-genome sequencing data for 2,520 pairs of tumor and normal tissue, analysed at median depths of 106× and 38×, respectively, and surveying more than 70 million somatic variants.
Funding
The massive, overlooked potential of African DNA
Startup 54gene secured $4.5 million in seed funding: they are collecting 40,000 samples by the end of this year, and 200,000 samples by the end of 2020 to fix the gap in genetic information.
Healx, the AI-powered and patient-inspired technology company specialising in treatments for rare diseases, secures $56 millioon in Series B financing, and launches global accelerator programme for rare diseases
PierianDx closes $27 million series B financing round
ArsenalBio, a precision immunotherapy company backed by billionaire Sean Parker, launched Thursday with $85 million from a Series A funding round that closed in July
News for the month of September 2019
Artificial Intelligence made the headlines in September. Several startups are working to harness artificial intelligence to speed up development of drugs and a recent Nature Biotechnology paper validates that the companies appear to be on the right track. DeepMind, Alphabet’s artificial intelligence lab and sister company to Google, showed the power of AI when it beat a roomful of biologists in a contest to predict the shape of a protein based on its genetic code. Novartis signed an R&D deal with Artificial Intelligence (AI)-based drug development firm BenevolentAI. It is counting on the power of AI to find potential new uses for oncology drugs already in its pipeline.
This September news update has been sponsored by:
Genetics/ Genomic Testing
23andMe, moving beyond consumer DNA tests, is building a clinical trial recruitment business
New partnership with TrialSpark offers a tech-powered alternative to traditional contract research organizations and may help 23andMe address one of the biggest challenges in clinical trial recruitment: geography.
Artificial Intelligence
A molecule designed by AI exhibits ‘druglike’ qualities
Insilico Medicine is among several startups trying to harness artificial intelligence to speed up development of drugs. Recent research is supporting this strategy.
Novartis and BenevolentAI sign AI oncology deal
Goal is to find potential new uses for oncology drugs already in its pipeline.
The billion-dollar race to change how drugs are made
A host of new companies, including Alphabet’s DeepMind, are racing to change the way drugs are made, using AI as an accelerant for research.
IBM’s Watson for Genomics launches in first European hospital
The Hôpitaux Universitaires Genève in Switzerland will be the first European university hospital to implement IBM’s AI to help doctors select treatments for complex cancer cases.
NGS/ Genomics
Illumina had a small round of layoffs in September
Illumina to make monthly cash payments to PacBio under extended merger agreement
Pharma
OxyContin maker prepares ‘free-fall’ bankruptcy as settlement talks stall
Immunotherapy
Researchers explore why certain immunotherapy patients develop lung inflammation
Reports suggest that up to 19% may develop dangerous inflammation of their lungs, dubbed checkpoint inhibitor pneumonitis (CIP).
Digital Health/ Telemedicine
Walmart tests the waters for digital healthcare
Walmart is rolling out a digital healthcare site – WalmartHealth.com – that gives consumers web tools to book appointments with physicians and other services.
Data Sharing
Amid privacy concerns, startup becomes first consumer DNA company to offer anonymous sequencing
Customers will be able to purchase Nebula’s whole-genome sequencing “without sharing their name, address, or credit card information.” Read our recent interview with Nebula Genomics’ CEO Kamal Obbad.
When apps get your medical data, your privacy may go with it
Microbiome
A library of human gut bacterial isolates paired with longitudinal multiomics data enables mechanistic microbiome research
MIT and Broad Institute scientists isolated and preserved samples of nearly 8,000 human microbiome strains, while also clarifying their genetic and metabolic context.
Bankrupt uBiome says founders may have misled investors
CRISPR
Many cancer drugs aim at the wrong molecular targets
Analysis using CRISPR gene-editing technology suggests that drugs’ mechanism of action are misunderstood.
WHO launches genome editing registry
CRISPR gene-editing may offer path to cure for HIV, First published report shows
Precision Medicine
World’s largest genetics project to tackle deadly diseases launches
The £200 million whole genome sequencing project is being created, forming a partnership of pharmaceutical firms and health experts which will sequence 500,000 UK Biobank volunteers.
deCODE in Iceland agrees to sequence half of UK Biobank participants
deCODE genetics together with the Wellcome Sanger Institute will sequence the UK Biobank participants – anticipated completion in the summer of 2021.
Miscellaneous
Breast cancer treatment could lead to incurable tumors years later
Drugs taken by thousands of breast cancer patients creates deadly “sleeper cells” that may cause incurable tumors years later.
For the first time, a medical treatment patent is ruled invalid under Mayo/Myriad
Tiny capsules offer an alternative to viral delivery of gene therapy
Packing a gene editing payload into a tiny customizable, synthetic nanocapsules are expected to reduce unplanned genetic edits due to their short lifespan inside a cell’s cytoplasm.
Lasker Awards honor scientists for creating an innovative breast cancer treatment and discovering key players of the disease-fighting immune system
The award will be shared by H. Michael Shepard & Axel Ullrich (both at Genentech when they did the research), and Dennis Slamon of the University of California, Los Angeles.
Crain Communications acquires biotech news source GenomeWeb
Publications
Scientists use advanced imaging to map uncharted area of genome
Researchers at the University of Colorado Anschutz Medical Campus have mapped a previously uncharted region of the human genome that gives rise to a variety of disease, setting the stage to potentially test for the conditions in the future.
Deep learning enables rapid identification of potent DDR1 kinase inhibitors
A breakthrough in imaginative AI with experimental validation to accelerate drug discovery
A breakthrough in imaginative artificial intelligence resulting in the creation of novel molecules against fibrosis and cancer validated in enzymatic, cell-based, disease-relevant assays and all the way into mice.
Researchers publish microbial profile to support growing field of gut research
Mergers/Partnerships, & Acquisitions
Mayo Clinic, Google partner on digital health analytics
Mayo said its selection of “Google Cloud” is designed to be “the cornerstone of its digital transformation” as part of a 10-year partnership with Google.
Funding
NIH funds new centers to expand and diversify the human reference genome
$29.5M grant will enable to generate and maintain a completely new and comprehensive reference sequence of the human genome that represents human genetic diversity.
Insilico raises $37M in Series B with plans to bring its AI to more drug discovery partnerships
Liquid biopsy developer OncoCell MDx raises $22.2M in Series B round
News for the month of August 2019
Precision medicine continued to face the issue of EHR interoperability. NIH ‘All of Us’ precision medicine program shared its first-year progress report. More than 230,000 participants have enrolled and more than 175,000 have contributed biospecimens for research. Reaching people who live in rural areas, and EHR sharing and interoperability was highlighted as a big hindrance. Meanwhile, Apple has signed a deal to integrate Allscripts’ EHR data into its Apple Health Records platform.
In DTC genetic testing, Illumina announced that it is uncertain about the future strength of the market. Illumina has lowered its full-year expectations, citing near term uncertainties in the direct-to-consumer (DTC) genetic testing market. Privacy concerns and the limited long-term value of genetic tests to consumers may be to blame for any potential slowdowns in the market.
Genetics/ Genomic Testing
Illumina is uncertain about the future strength of DTC genetic testing
Illumina has lowered its full-year expectations, citing near term uncertainties in the direct-to-consumer (DTC) genetic testing market. Privacy concerns and the limited long-term value of genetic tests to consumers may be to blame for any potential slowdowns in the market.
Invitae offering free genetic testing for Muscular Dystrophy to those eligible in US and Canada
Invitae has opened a program, Detect, offering free genetic testing and post-test counseling to people with diseases such as MD and prostate cancer. The goal is to promote early diagnosis and treatment.
Top U.S. medical centers roll out DNA sequencing clinics for healthy (and often wealthy) clients
Genomic sequencing programs that cater to apparently healthy adults have been started in the past few years but they are pricey.
Precision Medicine
NIH ‘All of Us’ precision medicine program shares first-year progress report
> More than 230,000 participants have enrolled.
> Of the enrolled participants, more than 175,000 have contributed biospecimens for research.
> Challenges include developing ways to reach people who live in rural areas, to allow participants to send their own EHR data directly to the NIH, rather than via providers, and to overcome interoperability issues among various EHR data sources.
The era of personalized medicine has arrived – PMC’s annual Progress and Outlook Report
Five million volunteers to have DNA analysed in new genomics projects
Millions of NHS patients will have their genetic information analysed and used for research into predictive medicine under a new programme from Genomics England.
All of Us Research Program to expand public engagement efforts with new partner awards
Study Produces Guidelines for Future Precision Medicine Research
NGS/ Genomics
Improving the accuracy of long-read genome sequencing
Specifically, they sought to improve the accuracy of a circular consensus sequencing (CCS) technique using single-molecule, real-time (SMRT) sequencing as performed by Pacific Bioscience (PacBio).
Seagate, UC Santa Cruz collaboration poised to accelerate genomics data analysis
Whole genome sequencing may help officials get a handle on disease outbreaks
Digital Health/ Telemedicine
Apple has signed a deal to integrate Allscripts’ EHR data into its Apple Health Records platform
Apple’s big Allscripts deal marks a shift in strategy for the tech giant that could help put its interoperable EHR platform in the hands of more care providers.
Liquid Biopsy
Promising blood test could help to predict breast cancer recurrence – a possible “game-changer”
TGen reported encouraging results on using a liquid biopsy test, called Targeted Digital Sequencing (or TARDIS). Results show that TARDIS was up to 100 times more sensitive than other similar liquid-biopsy tests in picking up DNA shed by breast cancer cells into the blood.
Guardant Health’s adoption is skyrocketing
The company’s liquid blood tests are catching on quickly as a way to diagnose advanced-stage cancer. Revenue grew 178% to $54M in the second quarter.
Guardant Health’s Blood Test Could Replace Biopsy for Certain Types of Cancer
Pharma/ Companion Dx
Drugmakers master rolling out their own generics to stifle competition
There are now about 1,200 authorized generics approved in the US. Authorized generics can be more than or as profitable as brand-name drugs.
Company knew about manipulated data before FDA approved $2 million gene therapy, agency says
Zolgensma was approved in May, and the FDA wasn’t informed of the data manipulation until a month later, according to the agency.
Pfizer adds $500M to gene therapy manufacturing plant where it will hire 300 workers
Pfizer, which is in a race with competitors for its initial gene therapies, is shifting its production efforts into overdrive.
How Important Is Keytruda For Merck?
Artificial Intelligence
Pharma companies are counting on cloud computing and AI to make drug development faster and cheaper
Hyperscale cloud providers AWS, Microsoft and Google are working with biotech and pharma firms to use AI and cloud computing to improve the odds of creating a successful new drug.
Deepmind’s losses and the future of artificial intelligence
Alphabet’s Deepmind lost $572 million last year. What does it mean?
Artificial intelligence hesitancy could hinder healthcare innovation
Immunotherapy
Medicare to pay for cutting-edge, expensive CAR-T treatment that harnesses cancer patients’ own immune system
The U.S. Centers for Medicare and Medicaid Services (CMS) finalized a decision to cover expensive cancer cell therapies sold by Gilead Sciences Inc and Novartis. Officials said Medicare will cover CAR-T cell therapies for certain types of lymphoma and leukemia, uses that are approved by the Food and Drug Administration.
Roche immunotherapy Tecentriq gains European approval for breast cancer
Microbiome
Phase Genomics’ platform links viruses and antibiotic resistance genes to the microbiome in study of a highly complex microbial community
New study of cow rumen finds hundreds of new viral and antibiotic resistance hosts in complex microbiome sample by leveraging proprietary proximity ligation platform.
Human microbiome genetic diversity comparable to number of stars in observable universe
Scientists in the United States and Canada have generated a catalog and searchable web resource detailing tens of millions of microbial genes identified through their first-sweep analysis of thousands of human samples.
Mouse Genetics Shape the Gut Microbiome More than Their Environment
Neither the maternal microbiome nor housing conditions appear to permanently alter which microbes remain in the animals.
Data Sharing
All your data is health data
Big Tech companies — Google, Facebook, Amazon, and others — have amassed untold stores of information, and because their devices are not classified as medical devices by the FDA, they are not subject to the Health Insurance Portability and Accountability Act – A NYT opinion piece.
CRISPR
Gene therapy developers issue principles for human genome editing
First lawful human trials for CRISPR in treating inherited blindness now underway
Accelerating forward engineering at genome scale
According to Inscripta, CRISPR technology and machine learning can supercharge the iterative development of biological systems.
“Special” CRISPR permits gene-editing of stem cell derived neurons
Miscellaneous
Reps. Peters, Shimkus introduce bill to expand whole genome sequencing for children
Rep. Scott Peters (CA-52) and Rep. John Shimkus (IL-15) introduced the bipartisan Ending the Diagnostic Odyssey Act to provide federal support for the use of whole-genome sequencing to diagnose children who are ill.
Eagle Genomics Soars into the Big Apple
Eagle Genomics launched their first location in the United States
Publications
The Landscape of Genetic Content in the Gut and Oral Human Microbiome
Removing cancer’s protective barrier could boost immunotherapy treatments
Speeding up drug discovery for brain diseases
New research published in cancer discovery identifies new drug target for glioblastoma
Mergers/Partnerships, & Acquisitions
Strata Oncology and LVHN announce partnership
LVHN is joining Strata Oncology Precision Oncology Network which will allow Lehigh Valley Health Network’s advanced cancer patients to receive molecular profiling of tumors & participate in clinical medical trials at zero cost.
Funding
Bioinformatics instrument-maker 10x Genomics files for a $100 million IPO
Gut check: Benioffs donate $35 million to further study of microbiome at UCSF, Stanford
Alphabet’s DeepMind takes on billion-dollar debt and loses $572 million
Genomenon wins SBRI grant to develop micropublications for genomic interpretation
News for the month of July 2019
Big NGS market player Oxford Nanopore is advancing its automation capabilities to allow for rapid growth. In July, it started high-tech, automated manufacturing processes at its new factory in Oxford, UK. The new factory will support a significantly increased production capability, exceeding 1 million flow cells/year in 4-5 years.
In the pharma space, Repositive has just made its world-leading directory of preclinical cancer models publicly browsable. The platform supports browsing of the metadata of 5,300 models from leading oncology CROs around the world.
From Our Blog
Othram aims to overcome DNA sequencing challenges to solve forensic crime cases
An interview with David Mittelman, Chief Executive Officer of Othram.
Immunotherapy and the basis of neoantigen biology: Part II cancer immunotherapies
We are detailing current immunotherapies that leverage neoantigens and other aspects of immune biology to treat various cancers.
Sentieon solves complex mathematical problems – Applied to DNA sequence secondary data analysis – by enhancing them with extreme accuracy and efficiency
An interview with Brendan Gallagher, Business Development Director at Sentieon.
NGS/ Genomics
Oxford Nanopore has started high-tech, automated manufacturing processes at its new factory in Oxford, UK
The factory, located on the Harwell Campus in Oxford, will support a significantly increased production capability, exceeding 1 million flow cells/year in 4-5 years.
The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom
The cost of genome sequencing surpasses $1000/genome – a single UK center demonstrates – and is underestimated if only sequencing costs are considered. The article states that cost of consumables need to be reduced considerably as 72% of the cost and with HiSeq SBS kit and BaseSpace Enterprise being the cost drivers.
Computing Biology’s Future
Life scientists need new training to grapple with their discipline’s explosion of data.
The Best DNA Testing Kits of 2019
A list of the top 9 DNA testing kits — what they offer, how they work, how much they cost.
Gilead launches sequencing spree after phase III NASH flop
Pharma/ Companion Dx
Repositive has just made its world-leading directory of preclinical cancer models publicly browsable
The platform supports browsing of the metadata of 5,300 models from leading oncology CROs around the world.
HIV vaccine to begin international tests, including in US
The new vaccine is a tetravalent mosaic. Johnson & Johnson will begin testing the vaccine on 3,800 men later this year.
Precision Medicine
As precision medicine starts to take off, Here’s who’s poised to capitalize
Illumina had 70% of the market for DNA sequencing in 2014. Since then, the company has been on a buying spree, consolidating the sector through mergers and acquisitions.
Helix partners with AdventHealth for screening for FH-linked genes
The study, titled WholeMe, will give 10,000 participants the opportunity to have Helix screen for pathogenic variants in the APOB, LDLR, LDLRAP1, and PCSK9 genes, which control how cholesterol is cleared by the body.
Plans for paid-for NHS genome sequencing shelved
The main stumbling blocks include currently limited ability of genome sequencing to predict disease in healthy individuals, and those paid volunteers (something of an oxymoron) who received reports of significantly increased disease risks would necessarily seek further medical support from the NHS. Creating a two-tiered system at odds with current NHS principles of free, equitable access on the basis of clinical need.
Mistrust and lack of genetic diversity slow gains in precision medicine
$2.8 million study funded by the National Human Genome Research Institute, that will look at precision medicine research at academic medical centers around the U.S. and help researchers figure out ways to expand the diversity of the genetics data gathered.
By targeting each patient’s unique tumor, precision medicine is crushing once-untreatable cancers. but only a fraction of patients currently benefit. Can medicine close the gap?
A Newsweek article on the challenges of precision medicine.
CRISPR
Here’s Why CRISPR Gene Editing Stocks Rose as Much as 32.4% in June
The field expanded into a new therapeutic area, and fell back into a bitter dispute over intellectual property.
First CRISPR study inside the body to start in U.S.
Up to 18 patients will be enrolled in first study to test CRISPR gene-editing technique inside the body to try to cure an inherited form of blindness.
Artificial Intelligence
AI drug hunters could give big pharma a run for its money
Alphabet’s DeepMind cracked a problem that long vexed biologists, heating up a technological arms race in health care.
Genetics/ Genomic Testing
The promises and pitfalls of gene sequencing for newborns
One of the big concerns about running gene scans on newborns is how families will receive and make sense of the results.
The IRS decided that 23andMe tests aren’t just for fun—they’re medical care
The latest item eligible for your flexible or health spending account? A 23andMe genetic testing kit.
23andMe is moving into Apple’s territory with a pilot to pull in medical data, not just DNA
23andMe is hoping users will volunteer more data than their genetics and will agree to incorporate lab test results, medication history and more. That brings it into competition with Apple, which also has a service to aggregate this kind of health information.
23andMe confirmed that it’s piloting the service, but stressed that it’s a gradual rollout.
23andMe competitor Veritas Genetics slashes price of whole genome sequencing 40% to $600
Immunotherapy
Are natural killer cells the next big thing in Immunotherapy?
NK cells boast significant advantages over first-generation immunotherapies based on chimeric antigen receptor T-cells (CAR-T).
Publications
Major breakthrough in the treatment of leukemia
Same repeated stretch of DNA found in three neurodegenerative diseases
A GPS-like system for single-cell analysis
Key gene behind hallmark of Lou Gehrig’s disease identified
Mergers/Partnerships, & Acquisitions
Exact Sciences to buy Genomic Health in $2.8B deal
Cancer diagnostic companies Exact Sciences and Genomic Health are combining in a $2.8 billion a cash-and-stock deal. They expect to generate revenue of $1.6B and gross profit of $1.2B in 2020.
Funding
The German cancer-treatment researcher BioNTech AG raised $325 million from investors, one of the largest financing rounds ever by a European biotechnology company
BioNTech is researching how to make personalized cancer therapies, an area of oncology research that has attracted attention from large pharmaceutical companies and investors alike in recent years. Pfizer Inc. and Sanofi, two of the world’s biggest drugmakers, have development deals with BioNTech.
Benchling’s software for managing biotech research nabs $34.5 million
GNS Healthcare raised $23 million in Series D
NIPT startup Cradle Genomics closes $17.1M Series A financing
News for the month of June 2019
June brought big players in precision medicine into collaborations. Intermountain Healthcare and deCODE genetics announced the launch of the largest DNA mapping effort undertaken in the U.S. from a single population. Sanford Health, Harvard Medical School and Brigham and Women’s Hospital will help determine best practices for using genetic screening to improve population health and Mayo Clinic is collaborating with Regeneron to generate whole exome sequencing and genotype data of 100,000 DNA samples. In other news, the merger between Illumina and Pacific Biosciences faced an obstacle when Britain’s Competition and Markets Authority expressed concerns that it may reduce competition and increase prices.
From Our Blog
Othram aims to overcome DNA sequencing challenges to solve forensic crime cases
In this month’s “Company Spotlight,” we interview David Mittelman, Chief Executive Officer of Othram, to take a closer look at how the company applies the power of modern sequencing technology and genomics to forensics.
Precision Medicine
Intermountain Healthcare and deCODE genetics launch groundbreaking DNA study of 500,000 people to find new links between genetics and disease
The initiative, called the HerediGene Population Study, represents the largest and most comprehensive DNA mapping effort to date in the United States from a single population. For the study, which is voluntary and free to participants, Intermountain teams will work with deCODE to analyze the genomes of 500,000 people from Intermountain’s patient population, primarily in Utah and Idaho.
Scientists from the German Cancer Consortium, German Cancer Research Center, and the University of Freiburg have created a comprehensive database of all synonymous mutations ever found in cancer.
The SynMIC database contains a total of 659,194 entries concerning 88 different types of cancer.
Screening study brings Sanford Health, Harvard together
Experts in genomic medicine from Harvard Medical School and Brigham and Women’s Hospital will help guide Sanford Health researchers in using and interpreting data collected through the test. Patients can consent to participate in the study when they sign up for the Sanford Chip.
Regeneron, Mayo ink pact to sequence, genotype 100K patient samples
Mayo Clinic is collaborating with Regeneron to generate whole exome sequencing and genotype data of 100,000 DNA samples from consented participants in research studies at Mayo, including the Mayo Clinic Biobank.
Google, Sanofi establish Innovation Lab for analytics-driven precision medicine
The goal of the collaborating is combining Google’s AI and cloud computing techniques and Sanofi’s scientific innovations.
NGS/ Genomics
Nebula Genomics, Merck KGaA’s EMD Serono partner on lung cancer pilot
NebulaGenomics has signed on its first biopharma partner. This pilot program will allow Merck KGaA’s EMD Serono to use Nebula’s network of anonymized genomic data. Learn more about Nebula Genomics from our interview with CEO Kamal Obbad.
QIAGEN Clinical Insight surpasses 1 million patient test cases analyzed and interpreted
More than 1,000 customers worldwide have uploaded and processed patient tests, ranging from targeted panels to whole exome or genome results across multiple indications, germline to somatic cancer, to gain actionable insights from the QIAGEN Knowledge Base.
Biocept announces commercial launch of Target Selector™ NGS Breast Panel, the company’s second multi-gene tumor-specific panel
Biocept’s Target Selector NGS Breast Panel will assist in the detection and monitoring of genomic biomarkers associated with breast cancer.
CRISPR
GSK partners with CRISPR pioneer Doudna to search for new drugs
GlaxoSmithKline announced that it would team up with some of the nation’s most prominent CRISPR researchers to use the gene-editing technology in a search for new medicines, establishing a new lab in San Francisco and spending up to $67 million over five years.
Russian scientist wants to use CRISPR to genetically edit infants
Russian biologist Denis Rebrikov told Nature that he plans to genetically edit infants using CRISPR techniques to target CCR5 – the protein which affects HIV – in order to make the infants HIV-resistant.
Single cell writing may unlock CRISPR’s full potential
Inscripta offered a peek into their progress toward making “the world’s first scalable platform for benchtop digital genome engineering.
Artificial Intelligence
MIT CSAIL’s AI can predict the onset of breast cancer five years in advance
Published in the journal Radiology, the researchers describe a machine learning model that can predict from a mammogram if a patient is likely to develop breast cancer as many as five years in the future.
Machine learning “very easy to abuse”
Nick Loman spoke at the American Society for Microbiology annual meeting to discuss the power of machine learning with both its limitations and benefits, and warning how easy of a system it is to abuse when creating models using datasets.
Genetics/ Genomic Testing
Guardant Health founder and CEO Helmy Eltoukhy states at ASCO 2019 that in the near future blood tests will be able to detect early stages of cancer.
Guardant Health is now launching a 10,000 patient study with a focus on colorectal cancer.
Liquid Biopsy Test to Find All Cancers Is Out of Reach for 2019
New details from a Grail study presented at the annual ASCO meeting: doctors and analysts believe it’s still early days.
Immunotherapy
The two technologies changing the future of cancer treatment
Immunotherapy and CAR-T cell therapy are changing the future of cancer treatment. Researchers are eager to leave behind the brutal side effects of chemotherapy and radiation.
Data Privacy
China announces hefty fines for unauthorized collection of DNA
A new law formalizes restrictions on the collection and use of people’s genetic data.
Microbiome
FBI probes uBiome over improper billing, unnecessary tests
FBI investigates whether the start-up used improper billing codes and performed unnecessary tests for payment.
Pharma/ Companion Dx
The changing landscape of research and development
Emerging biopharma companies now account for over 70% of the total late-stage R&D pipeline and of the 59 approved NAS (new active substances), 46% were approved based on data from trials with fewer than 500 total subjects – a report provided by IQVIA.
Miscellaneous
Executive order on improving price and quality transparency in American healthcare to put patients first
The administration issued a report entitled “Reforming America’s Healthcare System Through Choice and Competition.” The report recommends developing price and quality transparency initiatives to ensure that healthcare patients can make well-informed decisions about their care.
UK’s leading mouse genetics centre faces closure
Britain’s well-known mouse genetics institute, the MRC Harwell Institute, is facing closure – stalling research on many conditions including diabetes and neurodegenerative disease – leaving the staff “perplexed” at the decision.
Dr. Atul Butte – A life in medicine: People shaping healthcare today
An interview with Atul Butte discussing computer and data science and combining it with medicine/pediatrics.
NIH Director Francis Collins has a plan to help eliminate “Manels”
Francis Collins is addressing his concern over “manels” – panels at events that consist of only men – as he states that he will decline to speak at any event that does not promote diversity through a range of speakers.
The U.S. is purging Chinese cancer researchers from top institutions
The NIH and the FBI are targeting ethnic Chinese scientists, including U.S. citizens, searching for a cancer cure.
Publications
NIH-funded research highlights need for diversity in study populations, creates a comprehensive genomic toolkit for scientists
The new study, published in Nature, aimed to better understand how genomic variants influence the risk of forming certain diseases in people of different ethnic groups.
Reanalysis of clinical molecular data yields new genetic diagnosis
Mergers/Partnerships, & Acquisitions
CMA says Illumina-Pacific Biosciences deal could hurt competition
The $1.2 billion merger could have the negative effect within the UK of lowering competition by impacting the supply of specialist DNAsequencing systems.
PatientsLikeMe, forced by U.S. to ditch Chinese investor, sold to UnitedHealth Group
UnitedHealth Group, the largest health insurer in the United States, is purchasing PatientsLikeMe, a health technology firm, just months after it became public that the Trump administration was forcing the tech startup into a fire sale over concerns that its largest investor was Chinese.
Pfizer to acquire Array Biopharma
The transaction is valued at ~$11.4 billion.
Invitae to Acquire Singular Bio to Help Increase Access to Genetic Screening in Early Pregnancy
Funding
The newly formed company Thrive Earlier Detection raised $110M in Series A.
Johns Hopkins exclusively licensed CancerSEEK to the company.
Neurotrack raises $21 million to detect and track dementia
Illumina accelerator invests in four startups for ninth cycle
News for the month of May 2019
Pharma was in the spotlight in May. Novartis’ new gene therapy drug was approved by the FDA. Zolgensma treats children under 2 years of age with spinal muscular atrophy. With pharma companies already facing backlash for high drug prices, the $2.1m cost for the one-time injection will surely bring more controversy. On the R&D side, David Shaywitz shared the challenges the industry faces when trying to use existing data to glean novel insight. The extensive effort required to extract and clean the data sets highlights the need to modernize pharma’s approach to data collection and management.
From Our Blog
Immunotherapy and the basis of neoantigen biology: Part II cancer immunotherapies
Following up on last month’s blog, we are detailing current immunotherapies that leverage neoantigens and other aspects of immune biology to treat various cancers.
Precision Medicine
Verily launches Baseline Health System Consortium with Duke University, Mayo Clinic, Vanderbilt University
The end goal is to develop the technology and tools to help researchers create a more comprehensive map of human health.
Stanford-led study shows how big data can be used for personal health
They followed a cohort of more than 100 people over several years, tracking the biology of what makes them them. Now, after collecting extensive data on the group’s genetic and molecular makeup, the researchers are piecing together a new understanding of what it means to be healthy and how deviations from an individual’s norm can flag early signs of disease.
All of Us unveils data browser one year after the research program launched open enrollment for participants
Program participants, researchers and others can use the online tool to probe summary data and learn more about the All of Us pool of participants.
Flanders invests in personalized medicine
A total of 10 million euros is available for good projects.
BGI Genomics, Pryzm Health partner on ‘Precision Public Health’
Genomic profiling may translate to personalized treatment for bladder cancer subtypes
Genetics/ Genomic Testing
Blueprint Genetics expands in North America by building a new CLIA/CAP NGS facility in Seattle
Learn more about Blueprint Genetics in our company spotlight.
MyHeritage expands into health-focused DNA testing
The Israel-based company is offering 11 genetic risk tests, three polygenic risk tests and 15 carrier status reports.
‘DNA genie left bottle with ancestry testing’, says Wellcome ethics researcher
But while the genomic medicine revolution can empower patients, there are concerns over a lack of regulation around such tests, the thoroughness of the reports, and the absence of follow-up advice or counseling.
No horoscopes on the science page: Laura Hercher talks DTC genetic testing
A Mendelspod podcast.
Population DNA testing for disease risk is coming. Here are five things to know
Liquid Biopsy
GRAIL announces significant progress with multi-cancer early detection test including FDA Breakthrough Device Designation
Grail announced that it has settled on a method for its test and enrolled 115,000 patients in two large clinical trials. A third study, with 50,000 patients, has already begun.
ASCO: In early study results, Grail’s blood test identifies 12 cancers before they spread
New, early data from Grail showed its liquid biopsy test was not only able to detect the presence of 12 different kinds of early-stage cancer but could also identify the disease’s location within the body before it spreads using signatures found in the bloodstream.
Artificial Intelligence
A podcast with Eric Topol
Eric Topol discusses genetics and “Deep Medicine”.
AI beats animal testing at finding toxic chemicals
The Center for Alternatives to Animal Testing (CAAT) at Johns Hopkins University,compiled a database of 800,000 toxicological studies on more than 10,000 chemicals registered under the European REACH legislation for industrial chemicals, and used it to feed an advanced predictive algorithm that enabled us to predict the toxicity of any chemical without setting foot in the animal lab.
Two burgeoning technologies have precision medicine on the cusp of a big breakthrough
The simultaneous advances of deep learning and radiomics may soon yield a single unified framework for clinical decision support that has the potential to “completely revolutionize the field of precision medicine.”
Whole-genome sequencing plus AI yields same-day genetic diagnoses
The researchers paired Diploid’s MOON with a clinical language processing system, which allowed them to extract relevant information from a child’s electronic health records within seconds. Learn more about Diploid, the creator of Moon, in our company spotlight with CEO Peter Schols.
Artificial intelligence could vastly scale up Alzheimer’s research
Machine learning tool automates pathologists’ work to identify disease markers
AI uses images and omics to decode cancer
How a blood test can disrupt a $20 billion market
How AI could save lives without spilling medical secrets
A.I. took a test to detect lung cancer. It got an A.
Pharma/ Companion Dx
At $2.1 million, newly approved Novartis gene therapy will be world’s most expensive drug
Novartis is pricing Zolgensma at $2.125 million, or an annualized cost of $425,000 per year for five year. Zolgensma treats children under 2 years of age with spinal muscular atrophy.
Pharma’s desperate struggle to teach old data new tricks
While pharma C-suite executives find themselves increasingly seduced by the promise of “digital transformation,” and especially by the idea of leveraging AI, the lived, on the ground reality within virtually all pharma R&D organizations couldn’t be further removed.
5 things you can expect for Gilead Sciences with its new CEO at the helm
Includes expected acquisitions and licensing deals and an elevated position for Kite.
The history of Alzheimer’s drug testing
Video that summarizes the history of Alzheimer’s research and clinical drug testing by STAT.
Takeda teams up with Frazier Healthcare for GI biotech launch
Supreme Court gives Merck another shot to avoid Fosamax lawsuits
Digital Health/ Telemedicine
UPMC creates telemedicine company to address shortage of infectious disease specialists
UPMC has already been providing ID services to patients via telemedicine for the past five years.
Pharma giant Sanofi expanding into digital health solutions
Sanofi is working with Happify Health to enter the digital health field. The two have been researching a digital treatment option for patients with multiple sclerosis and depression, aiming to create alternative treatments to existing pharmaceutical options.
Digital therapeutics look ready to bloom with help from pharma companies
Microbiome
Insiders describe aggressive growth tactics at uBiome, the health start-up raided by the FBI last week
uBiome routinely billed patients multiple times without consent and pressured doctors to approve tests with minimal oversight.
Forensic NGS
Cellmark Forensic Services and Verogen have signed a collaboration agreement to establish Cellmark as a United Kingdom (UK) center of excellence for forensic Next Generation Sequencing (NGS).
Publications
Genetically engineered immune cells fight off deadly virus in mice
By genetically engineering immune cells to make more effective antibodies,researchers have defended mice from a potentially lethal lung virus. The same strategy could work in humans against diseases for which there are no vaccines.
How can polygenic inheritance be used in population screening for common diseases?
Precision preventive medicine — Ready for prime time?
Scientists discover new antibiotic resistance gene
Mergers/Partnerships, & Acquisitions
Merck announced that it will be buying Peloton Therapeutics in a transaction valued at $1.05 billion
Funding
Congenica raises £23.3 million in series B funding round
DNA Script raises $38.5 million in series B financing
Tempus Attracts $200M in Series F Financing, Bringing Total Raised to $510M
New York Genome Center receives $125 million gift
News for the month of April 2019
It has been a challenging month for precision medicine: the wellness company Arivale was shutdown, Illumina is expected to divest from Helix, and uBiome just got raided by the Feds. It seems that incentives are not aligned with the best interest of the patients and their health. While health systems want to run more procedures, insurers want to control expenses by limiting access to what are considered unwarranted treatments or diagnostics tests. The situation is however likely to improve for precision medicine as the industry advances, the tests become more refined, and the costs continue to be brought under control and ultimately decline. As Arivale stated in its message to customers, they may have “simply been too early.”
Microbiome
uBiome raided by the FBI
The company has been double billing insurers.
As researchers pursue links between bacteria and human health, startups stand to benefit
In 2009, the National Institutes of Health launched a five-year, $150 million project to stimulate research into a new field of medicine examining the connections between the millions of bacteria living in the human gut and overall human health.
Genetics/ Genomic Testing
Helix/PerkinElmer launched a DNA-based health test that could be a big competitor to 23andMe
Test looks at risk of diseases like breast cancer, colon cancer, and high cholesterol.
Invitae gets a boost from a mega insurer
Invitae has been selected as one of the seven lab companies in its Preferred Laboratory Network (PLN).
Ancestry is said to prepare for IPO as DNA-test industry booms
Ancestry felt the time was ripe to come back to the stock market, and that capital raised in an IPO could help it accelerate its growth as it competes with 23andMe and other DNA-testing rivals.
Polygenic risk scores have a diversity issue
Natera’s liquid biopsy exome could enable recurrence monitoring without tissue samples
Precision Medicine
Value-based care Is changing cancer treatment decisions as drug costs continue to rise
Survey results: Drug costs remain, by far, the biggest challenge to value-based care in oncology. More than half (57%) said drug costs were the top challenge, followed distantly by reporting requirements (19%), reducing emergency department visits (14%), transforming the practice for success (5%), and getting the right skills, workflow, and technology in place (5%).
Sutter Health, UPMC, and DNAnexus initiate collaboration to improve personalized treatments for people with multiple sclerosis
Scientists at the Sutter Health will input de-identified clinico-genomic datasets from more than 3,000 patients to the DNAnexus Apollo™ Platform that complies with rigorous patient confidentiality requirements. The Genome Center at UPMC will generate clinical-grade genomic data from samples contributed by the program’s participants.
Humana offers analytics to improve care for cancer
Intended to offer support to providers in making the transition to value-based care. The program will offer analytics to support providers.
Cancer: Highly personalized therapy can improve outcomes
A new study suggests that further personalizing precision medicine may be useful in treating cancers that do not respond to commonly prescribed therapies.
Spatial Genomics
NanoString and Abcam enter commercial partnership to provide expanded menu of antibodies for GeoMx Digital Spatial Profiler
Abcam will leverage its collection of over 6,000 recombinant monoclonal antibodies to create bespoke antibody content for NanoString’s GeoMx DSP platform.
NGS/ Genomics
The top 10 sequencing companies
Five years after the introduction of the $1,000 genome, the sequencing field remains rife with chatter about pushing the cost much lower—not only to $100 (and why the world may not be ready for it), but as far down as $10. Illumina, Thermo Fisher Scientific, BGI Genomics, 10X Genomics, QIAGEN, GENEWIZ, Macrogen Inc., Pacific Biosciences, and Oxford Nanopore Technologies Ltd.
Pacific Biosciences launches new Sequel II System
The system includes the new SMRT® Cell 8M, as well as chemistry, instrument control software and the SMRT Link software package. Featuring ~8 times the DNA sequencing data output.
PetaGene partners with NetApp Alliance for increased user performance
The collaboration will be particularly useful for those transferring backlog processing to the cloud, scaling sample processing and scaling out a global repository for genomic data.
Genomenon Partners with Google to make genomic data available on the Google Cloud Platform
Genomenon’s Cited Variants Reference (CVR) data will be a public dataset available in BigQuery.
Parabricks brings accelerated and AI-based genomic analysis to Google Cloud Platform Marketplace
This collaboration will launch their accelerated, deep learning based product suite for primary and secondary analysis of sequencing data.
AiLife Diagnostics and BGI Americas partner to provide clinical WGS solution
Pharma/ Companion Dx
The UK government’s Competition and Markets Authority (CMA) said that it has launched an investigation into Illumina’s planned acquisition of Pacific Biosciences.
They are evaluating whether the acquisition “will result in the creation of a relevant merger situation under the merger provisions of the Enterprise Act 2002″ and whether it will likely result “in a substantial lessening of competition within any market or markets in the UK for goods or services.”
FDA approves expanded use of Agilent CDx for Keytruda in Lung Cancer
FDA approves Qiagen Companion Dx for bladder cancer drug Balversa
Myriad Genetics expands CDx tie up with AstraZeneca & Merck
FDA approves pembrolizumab plus axitinib for advanced renal cell carcinoma
Three cancer drugs cleared for NHS funding in Scotland
CRISPR
Two patients treated with CRISPRed cells in immunotherapy trial
One person with multiple myeloma and one with sarcoma are the first so far to receive the genetically engineered T cells in the study.
New CRISPR tool could eradicate viral diseases with long-range DNA shredding
An international team of scientists recently unveiled a new CRISPR-based tool capable of shredding long portions of targeted DNA strands.
CRISPR base editors are often off base with RNA
When CRISPR base editors take a walk on the wild side, they may do so throughout the transcriptome, leaving trails marked by thousands of off-target edits
Artificial Intelligence
Scott Gottlieb, released a white paper that sets forth the broad outlines of the FDA’s proposed approach to establishing greater oversight over this rapidly evolving segment of AI products in medicine
The white paper describes criteria the agency proposes to use to determine when medical products that rely on artificial intelligence will require FDA review before being commercialized.
Where AI in medicine falls short
It can help with diagnosis but not yet with helping physicians and patients decide what to do with the information.
Digital Health
Best Buy expands reach into digital health space with Tyto Care partnership
Best Buy is reiterating its interest in the healthcare space with a new retail partnership with Tyto Care, the maker of an at-home medical exam and telehealth device kit.
Miscellaneous
First bacterial genome created entirely with a computer
They took the minimal genome of C. crescentus as a starting point to chemically synthesize this genome from scratch, as a continuous ring-shaped chromosome.
Post-Theranos, startups are still out for blood
Perhaps the biggest fallacy is the notion that Mark Zuckerberg’s motto, “move fast and break things,” is an appropriate strategy for a health biotech startup.
NIH streamlines gene therapy oversight and charts a course for considering emerging technology
Publications
Clinical use of current polygenic risk scores may exacerbate health disparities
A single-cell atlas of the tumor and immune ecosystem of human breast cancer
Deep learning for genomics: a concise overview
Deep learning: new computational modeling techniques for genomics
Mapping the European startup landscape
Mergers/Partnerships, & Acquisitions
Regeneron pumps $800M into ‘potentially game-changing science’
Regeneron will look to develop RNA interference (RNAi) therapeutics for eye and CNS diseases by teaming with and investing in Alnylam Pharmaceuticals.
GraphPad acquires Biomatters to form industry leading life sciences software platform
Funding
Illumina earnings selloff a buying opportunity – expected divestment of Helix
Inscripta completes $20M expansion of Series C financing, increasing total round to $105.5M
Walgreens to invest $300M in digital health
News for the month of March 2019
March brought us some exciting CRISPR news. Feng Zhan unveiled the latest CRISPR startup, Sherlock Biosciences, with the announcement of $35M in funding. Also, Cardea Bio, a leading manufacturer of commercial-quality graphene digital biosensors, together with Nanosens Innovations, introduced a new CRISPR-Chip for fast mutation detection.
Other highlights of the month include that genetic data from 50,000 UK Biobank participants was made available to the global health research community and Ned Sharpless, director of the NCI, to be named acting FDA commissioner.
Genetics/ Genomic Testing
Liquid biopsy-based test as good as tissue-based tests for identifying treatment for lung cancer
Guardant360, detected biomarkers at a rate similar to that of standard-of-care tissue genotyping tests but with a faster turn-around time, according to data presented during a media preview of the AACR Annual Meeting 2019.
Precision Medicine
Largest-ever Alzheimer’s gene study brings new answers
Analysis involving data from more than 35,000 individuals with late-onset AD via data sharing.
New genetic data on 50,000 UK Biobank participants made available to the global health research community
New UK Biobank genetic data of 50,000 UK Biobank participants becomes available to health researchers, offering an unprecedented resource to enhance understanding of human biology and aid in therapeutic discovery. It was generated through a collaboration between UK Biobank, Regeneron (US) and GSK (UK) and is linked to detailed health records, imaging and other health-related data.
Death by 1,000 clicks: Where electronic health records went wrong
The U.S. government claimed that turning American medical charts into electronic records would make health care better, safer, and cheaper. Ten years and $36 billion later, the system is an unholy mess. Inside a digital revolution that took a bad turn.
Artificial Intelligence / Machine Learning
New MMC Ventures report finds that 40% of European AI-startups overstate artificial intelligence classification and don’t actually use/apply it right now in their field of business
The report reviewed the activities, focus and funding of 2,830 purported AI startups in the 13 EU countries most active in AI – Austria, Denmark, Finland, France, Germany, Ireland, Italy, the Netherlands, Norway, Portugal, Spain, Sweden and the United Kingdom.
Stanford University launches the Institute for Human-Centered Artificial Intelligence
The institute is committed to studying, guiding and developing human-centered AI technologies & applications. It includes 200 participating faculty from all seven schools and partners with industry, governments and commercial organizations.
The Pharmaceutical Industry
Biogen halts studies of closely watched Alzheimer’s drug, a blow to hopes for new treatment
They were halting two Phase 3 clinical trials of aducanumab, a drug that was designed to slow the worsening of Alzheimer’s by targeting brain-destroying protein fragments known as beta-amyloid. An interim analysis conducted revealed that aducanumab was unlikely to benefit Alzheimer’s patients compared to placebo when the trials completed.
Immunotherapy
Roche scores first U.S. approval of immunotherapy for breast cancer
Tecentriq (atezolizumab), a PD-L1 inhibitor, scored its fifth Food and Drug Administration approval for advanced triple-negative breast cancer.
CRISPR
Cardea Bio, leading manufacturer of commercial-quality graphene digital biosensors, together with Nanosens Innovations, introduces the new CRISPR-Chip
The new chip has the potential to detect genetic mutations within minutes.
Blockchain
Blockchain’s Potential In Clinical Research
Disa Lee Choun, Global Clinical Sciences & Operations at UCB discusses the challenges of adopting blockchain in clinical research, as well as use-cases of it being effective.
Blockchain and AI: Leading the Way to the Fourth Industrial Revolution Against the Odds
Both AI and blockchain work on the principle of analyzing vast amounts of data and solving the issues of specific industries.
Miscellaneous
Apple Heart Study demonstrates ability of wearable technology to detect atrial fibrillation
Study included 400K participants – 0.5% received irregular pulse notifications with 34% of those were found to have atrial fibrillation.
New opioid epidemic ‘hot spots’ emerge in USA. Once considered largely a Midwest problem, opioid mortality is rising quickly in Eastern U.S.
UK launches National Genomic Healthcare strategy
Ned Sharpless, director of the NCI, to be named acting FDA commissioner
Publications
Assessment of a deep learning model based on electronic health record data to forecast clinical outcomes in patients with rheumatoid arthritis
The model is able to accurately predict the prognosis of patients with rheumatoid arthritis (RA).
Variant calling best practices benefit the cancer diagnostic community
Investigators associated with the GA4GH explained how methods for calling variants within “truth sets,” or high-confidence regions, can be standardized. The tools of best practice were used in PrecisionFDA, the agency’s pilot program on best practices in variant calling.
The ethics of sequencing infectious disease pathogens for clinical and public health
Science Magazine – special edition on pediatric cancer
The Missing Diversity in Human Genetic Studies
Mergers/ Partnerships & Acquisitions
Natera and BGI Genomics announce $50M partnership to commercialize Signatera Oncology test in China
They also plan to develop Reproductive Health Tests in Select Markets on BGI’s DNBseq™ Technology Platform.
Funding
Off-the-shelf CAR-T and gene-editing player Precision Bio files $100M IPO
Intermountain Healthcare genomics division awards $400K for precision medicine research to Stanford University, Huntsman Cancer Institute, and Vivid Genomics
Forensic genomics firm Othram raises $4M
Feng Zhan unveils latest CRISPR startup Sherlock Biosciences with the announcement of $35M in funding
Inivata, a Cambridge UK company in liquid biopsy, has completed a Series B fundraising of $52.6m
BillionToOne raises $15M in Series A
News for the month of February 2019
In February, the NHS commissioned Topol Review was released. Using expert opinion from across the UK and overseas, the report provides guidance on preparing the healthcare workforce to deliver the digital future. It highlights that within 20 years, 90% of all jobs require some element of digital skills. Therefore, it is critical for doctors to be trained in genomics, artificial intelligence, and digital healthcare technologies.
Acquisitions in the pharmaceutical industry were another highlight of the month. Roche agreed to purchase US gene therapy company Spark Therapeutics for approximately $4.8 billion. Spark Therapeutic is the maker of Luxturna, a one-time gene therapy for individuals with an inherited retinal disease. Johnson & Johnson has agreed to buy surgical robotics company Auris Health. This purchase moves J&J into the lung-cancer diagnostic and treatment space.
NGS/Genomics
Leading health and research organizations launch the Medical Genome Initiative
Eight health care & research organizations in the US & Canada have signed an agreement to launch the Medical Genome Initiative, a consortium that will work to expand access to high-quality clinical whole genome sequencing (cWGS) for the diagnosis of genetic diseases – includes Baylor Genetics, Hudson Alpha Institute for Biotechnology, SickKids Foundation, Stanford University, Mayo Clinic, Broad Institute, Rady Children’s Hospital, and Illumina.
Oxford Nanopore launches new cDNA Kits for its sequencing technology
The new kits provide high throughput whilst generating complete sequences of full-length cDNA strands, with a low input option of just 1ng PolyA+ RNA.
ArcherDX enters into strategic collaboration with Genosity
ArcherDX, a molecular technology company dedicated to developing breakthrough solutions that advance various applications in precision medicine has entered into a broad strategic collaboration with Genosity, a biotechnology company that provides expertise, software and technical solutions.
Incomplete genomics: Adding new sequences to the reference genome
Sequencing experts fill in gaps, confront genomic diversity, and ponder the complexities posed by multiple reference genomes.
Genetics/ Genomic Testing
Invitae more than doubles annual volume and revenue year-over-year. Delivering 117% in revenue growth driven by 102% growth in volume in 2018
Annual volume, revenue exceed increased guidance for full-year 2018. Guided to more than 500,000 test samples, $220 million in revenue expected in 2019.
More than 26 million people have taken an at-home ancestry test
The testing frenzy is creating two superpowers—Ancestry of Lehi, Utah, and 23andMe of Mountain View, California. These privately held companies now have some of the world’s largest collections of human DNA.
Precision Medicine
QIAGEN informatics solutions chosen to support Genomics England’s bold five million genomes in five years project
Includes access to Qiagen Clinical insights (QCI) for hereditary diseases and access to HGMD Online, a part of the QCI portfolio, for all NHS users.
Digital Health
The Eric Topol review: Preparing the healthcare workforce to deliver the digital future
Doctors should be trained in genomics, artificial intelligence (AI), and digital healthcare technologies, the government (NHS England) commissioned Topol review has said.
The Pharmaceutical Industry
What is a data science mindset — and does pharma R&D really need one?
An article by David Shaywitz: Data scientists are optimistic about the opportunity to improve how new medicines are discovered and delivered; most traditional medical scientists (including most pharma researchers) are skeptical that these new approaches will deliver benefit to patients, but convincible, saying, appropriately: “show me the data.”
Will cell and gene therapies disrupt drug reimbursement?
The goal is to make new medicines more affordable by focusing on results, as such Novartis reimburses Kymriah cost in full if the drug treatment doesn’t work.
Roche and Forma Therapeutics cutting jobs in Massachusetts
The cuts are slated to begin in March and be completed by the end of March 2020. The report did not provide specifics of why.
Immunotherapy
Following U.S. and U.K., CAR T-cell cancer therapy approved in Japan for young ALL leukemia patients
The CAR T-cell therapy is likely to join the list of drugs and treatments covered by the system as early as May.
Aggressive brain cancer: Why does immunotherapy fail?
Immunotherapy actually helps fewer than 1 in 10 people with glioblastoma.
Immunotherapy combination generates responses against castration-resistant metastatic prostate cancer
Two checkpoint inhibitors provide early encouraging results for immunologically cold disease.
Discovery of new ‘checkpoint’ points to new cancer immunotherapy option
Vanderbilt researchers have discovered that a new “checkpoint” protein on immune system cells is active in tumors.
CRISPR
New strategy improves efficiency of CRISPR-Cas9 genome editing
The efficiency of CRISPR genome editing tools targeted to the site of interest by Cas9 nucleases varies considerably and a new CMP-fusion strategy, called CRISPR-chrom, enhances the activity up to several-fold. CRISPR-chrom works by fusing a Cas9 to chromatin-modulating peptides (CMPs).
CRISPR corrects Duchenne muscular dystrophy (DMD) in mice for a year in Sarepta-supported study
A single treatment of CRISPR in mice corrected the disease for more than a year. During that time, the mice did exhibit immune responses to the Cas9 enzyme used for gene editing, but the effects were not toxic to the animals.
Blockchain
Bitfury’s new partnership to build blockchain-based medical imaging platform
Blockchain tech company Bitfury is partnering with radiology blockchain marketplace Medical Diagnostic Web (MDW) to create a blockchain-based medical imaging ecosystem.
Prototype of running clinical trials in an untrustworthy environment using blockchain
Advocates that this service could offer an improvement in clinical trial data management, and could bolster trust in the clinical research process and the ease at which regulators can oversee trials (an Atul Butte lab research paper).
Miscellaneous
Targets versus drugs
The discovery of a “new target or pathway” is not the same as finding a “new drug.”
Genome sequencing stocks on the rise
A close look at Illumina, Myriad Genetics, Genomic Health, and Sarepta Therapeutics.
Repositive’s personal shopper aims to ease access to its cancer models
The Repositive platform holds a directory of cancer models from 14 CROs with ongoing expansion.
Ten European genomics companies to watch out for
And the companies are: Congenica, Dante Labs, deCODE, Eurofins Genomics, F2G, Oxford Nanopore, MediSapines, QIAGEN, NRGene, and Sophia Genetics.
The average American would rather share their health data with pharmaceutical companies, health insurers, and the government than with tech companies like Amazon and Facebook.
Only 11% are willing to share their health data with tech companies, a Rock Health 4,000 participant survey shows.
Peer review could help smoke out the next Theranos
How to Delete Your Data From 23andMe, Ancestry, and Other Sites
A great overview of why there’s reason to have privacy concerns regarding most current DTC genetic testing services and how to delete your data from them if you choose to.
Florence and SignalPath announced a strategic partnership to optimize clinical research operations through the integration of their industry leading offerings
The partnership creates a seamless experience for mutual customers of SignalPath’s clinical trial management system (CTMS) and Florence’s regulatory document management software (eRegulatory).
Health research: Applying genome technologies to the study of disease
Interview with Dr Carolyn M. Hutter, PhD, Director, Division of Genome Sciences at the National Human Genome Research Institute (NHGRI)
Genomic Health Q4 revenues rise 22 percent; International efforts expected to push 2019 growth
Publications
New immunotherapy treatment removes all tumors in woman with advanced metastatic breast cancer
Naturally-occurring tumor infiltrating lymphocytes (TILs) extracted from the patient’s tumor, grown outside to boost their numbers and injected back into the patient to tackle the cancer. The patient is still in remission 22 months later!
The single cell transcriptional landscape of mammalian organogenesis
New 3-D imaging technique reveals how pancreatic cancers start
Largest study to date on prostate cancer patients finds 17% have disease-causing variant
Immune and genomic correlates of response to anti-PD-1 immunotherapy in glioblastoma
Antibody could increase cure rate for blood, immune disorders
An antibody to a protein on blood-forming stem cells may allow bone marrow transplants without the need for chemotherapy and radiation, according to a Stanford study.
Viruses that linger in the gut could trigger type 1 diabetes
Four new DNA letters double life’s alphabet
Synthetic DNA seems to behave like the natural variety, suggesting that chemicals beyond nature’s four familiar bases could support life on Earth.
Mergers/ Partnerships & Acquisitions
Swiss pharmaceutical company Roche is set to purchase US gene therapy company Spark Therapeutics for approximately $4.8 billion
Spark Therapeutic has pioneered treatments for haemophilia A and plans to charge $425,000 per eye in a blindness treatment approved by the FDA in 2017.
J&J acquires robotic-surgery firm Auris for $3.4 billion
Merck to buy immunotherapy developer Immune Design for $300M
Foundation Medicine signs $111M contract with Department of Veterans Affairs
Genomenon and Diploid sign partnership agreement to accelerate rare disease diagnostics
MolecularMD is acquired by ICON
Funding
Bolt Biotherapeutics raised $54 million
In support of their research to develop drugs intended to turn cold tumors – the majority of cancers – into “hot” tumors so that other immunotherapies can work.
DNAnexus Closes $68M Series F Round
GV and WuXi NextCode both returned to back a $68M round for DNANexus, bringing the biomedical informatics platform’s total funding to approximately $173M.
Health Catalyst Secures up to $100 Million in Series F and Dept financing and reaches a $1 billion valuation
Women scientists inhibited by funding methods that favor men, researchers say
Biocartis successfully raises Eur 80 million in an equity placement
Broad Institute launches Gerstner Center for Cancer Diagnostics
The Broad Institute has received $25 million commitments to establish a research center focused on developing liquid biopsy and other diagnostic technologies for cancer. It will build on previous research into the mechanisms of cancer drug resistance that was launched in 2015 with $10 million from the Gerstner Family Foundation.
Google Venture firm taps David Schenkein to lead life-sciences investments
Emedgene raises $6 million to scale genomics-based care with AI
Microbiome analysis firm Phylagen closes $14M Series A round
Teckro nabs $25M Series C to speed up clinical trials
Yourgene “Effectively Debt Free” after deal with life technologies
News for the month of January 2019
January brought the exciting news that Sanofi and GSK have joined up with FinnGen, a project collecting genomic and health data from 500,000 participants in Finland. This project is likely to accelerate advancements in precision medicine and roughly 1 in every 25 Finns has already taken part. Besides a large number of announcements accompanying the JP Morgan Healthcare conference – see our conference summary – it was also a big month for funding. Sophia Genomics raised $77M, 10X Genomics raised $35M, Roswell Biotechnologies raised $32M, and Genomenon completed a $2.5M round. 2019 is off to an extraordinary start!
NGS/Genomics
Consumer genomics poised for growth in 2019 as providers diversify offerings
Justin Petron digested over a dozen interviews to summarize the findings in this article..
Sanofi and GSK have joined up with a project collecting genomic and health data from 500,000 participants in Finland, which could help to develop personalized medicine
The project, called FinnGen, aims to collect biological samples and health data from 500,000 Finns by 2023. FinnGen focuses on regions encoding genes, and the variations therein. So far the project has collected 222,000 samples since 2017, which makes up roughly 1 in every 25 Finns.
Illumina announces that the FDA granted Breakthrough Device Designation for its pan-cancer assay
Currently in development, with plans to be marketed as TruSight™ Oncology Comprehensive, the assay is based on the content of Illumina’s TruSight™ Oncology 500 (TSO 500), designed to detect known and emerging solid tumor biomarkers.
DNA extraction remains bottleneck for long-read techs but solutions begin to emerge
Precision Medicine
Verily’s wearable smartwatch EKG feature gets FDA nod
While the study watch was designed as an investigational tool, it’s likely the company will integrate features developed on the device onto its more consumer-oriented offerings.
Tens of thousands in Hong Kong to have their DNA sequenced in government-backed genome project
The Hong Kong Genome Project would cover 20,000 cases. As two or more samples might be collected in a case, such as collecting data from a patient and their parents for an undiagnosed genetic disorder, it was estimated the project would sequence 40,000 to 50,000 genomes.
Meet a new member of the health care team: the electronic health record
The goal is to better able to derive information from the vast amounts of data that oftentimes sit trapped inside electronic health records.
Pharma/ Companion Dx
Orphan drugs dominate FDA’s record-breaking year
Well over half of the new approvals were for rare diseases, helped by an FDA drive to eliminate a backlog in orphan drug reviews that kicked off with the Orphan Drug Modernisation Plan (ODMP) in 2017.
The new drugs of 2018
59 newly approved drugs, incl. an RNA interference drug (Alnylam Pharmaceuticals’ Onpattro) & 19 work by a novel mechanism of action.
Repositive Cancer Models Platform becomes the largest global marketplace for translational cancer models to support precision medicine
With over 4,540 cancer models submitted to date from 14 Contract Research Organisations (CROs), including Antineo, Shanghai LIDE and Xentech, Repositive’s marketplace enables biopharma researchers to quickly find the translational models they need, helping to accelerate the development of personalised cancer treatments to the clinic.
Cheap drugs have a hidden cost
Data, documents and interviews show how a focus on cutting prices has come with risks to consumer health.
3 reasons buying Celgene right now makes sense
Bristol-Myers Squibb’s $74 billion acquisition of Celgene would combine two troubled companies
Qiagen secures first companion diagnostic approval in Japan
Blockchain
New blockchain collaboration launches with Aetna, Anthem, and HCSC
Even as the hype around cryptocurrencies like Bitcoin have died down, major players are investing in applications to bring blockchain to healthcare.
Genetics/ Genomic Testing
NHS to offer paid-for DNA tests if patients share data
People in England will be able to pay the NHS to sequence their genes on condition they share their data.
Invitae expects to double revenues, test volume in 2018
Invitae reports more than 100% in volume (> 302,000 samples) and revenue (> $144 million) growth in 2018.
23andMe will add weight-loss advice to its DNA-testing services
Company is partnering with an AI weight-loss coaching service.
All of Us research program to pilot return of genetic results, integrate devices and apps this year
The National Institutes of Health’s All of Us Research Program this year will pilot returning genetic test results to participants.
CRISPR
CRISPR Therapeutics and Vertex announce FDA fast track designation for CTX001 for the treatment of Sickle Cell Disease
CTX001 is an investigational, autologous, gene-edited hematopoietic stem cell therapy for patients suffering from severe hemoglobinopathies.
He Jiankui fired in wake of CRISPR babies investigation
Artificial Intelligence
The machine learning race is really a data race
Organizations that hope to make AI a differentiator need to draw from alternative data sets — ones they may have to create themselves.
Rewiring R&D: The promises of digital, AI, & machine learning for biotech research
Dr. Daphne Koller: “The problem of predicting of what’s going to be presented on a cell’s surface, for instance, is not AI: Because people can’t actually solve this problem.”
AI drug development hit the news
A flight over this new ecosystem looking for the bright lights of a rigorous developing market.
PATH: New organization fostering AI, automation and healthcare
Novartis CEO who wanted to bring tech into pharma now explains why it’s so hard
Using Artificial Intelligence to catch irregular heartbeats
Data Sharing
Genetic Alliance and LunaPBC partner to support personal health and accelerate medical breakthroughs
Over the course of 2019, the organizations will merge Genetic Alliance’s Platform for Engaging Everyone Responsibly engagement platform with LunaDNA to provide individuals and communities with more resources to support health management while maximizing research opportunities.
Miscellaneous
3 reasons why CVS Health thinks its $78 billion bet can make you a lot of money
CVS Health spent a fortune to buy Aetna. CEO Larry Merlo explained at the J.P. Morgan Healthcare Conference why it should pay off for investors.
Where’s Big Tech at biopharma’s big bash?
How long it will be until we see CEOs of Google, Apple, and Amazon presenting to investors on the JPM main stage?
A New Test Predicts When You’ll Die (Give or Take a Few Years)
And insurance companies are already interested.
Technologies to watch in 2019
From higher-resolution imaging to genome-sized DNA molecules built from scratch, the year ahead looks exciting for life-science technology.
Scientists Have Been Studying Cancers in a Very Strange Way for Decades
By growing cells in unrealistic liquids, they may have inadvertently skewed the results of their experiments.
The health of the world in 2018, by the numbers
Circulating tumor cell capture technologies expand in 2018
Publications
A call for deep-learning healthcare
Atul Butte and team argue that now is the time to create smarter healthcare systems in which the best treatment decisions are computationally learned from electronic health record data by deep-learning methodologies.
Are drug targets with genetic support twice as likely to be approved?
Revised estimates of the impact of genetic support for drug mechanisms on the probability of drug approval
New biomarker (ubiquilin-4) links cancer progression to genome instability
Approaches to treat immune hot, altered and cold tumours with combination immunotherapies
Highly-accurate long-read sequencing improves variant detection and assembly of a human genome
Errors in long-read assemblies can critically affect protein prediction
Barcode identification for single cell genomics
Mergers/ Partnerships & Acquisitions
BMS to buy Celgene in deal worth $74 billion
Eli Lilly to buy Loxo Oncology for $8 billion in huge bet on cancer genetics
QIAGEN to acquire N-of-One
The company said the addition of N-of-One will enable QIAGEN to significantly expand its decision-support solutions while offering a broader range of software, content and service-based solutions.
Funding
Sophia Genetics raises $77M in Series E
10X Genomics raises $35 million for cell sequencing – an extension of its April Series D round
Genomenon completes $2.5M financing round
Microsoft’s venture fund invests in healthcare startup Innovaccer
Roswell Biotechnologies Raises $32M in Series A Round
Sanofi to exit immuno-oncology collaboration with Regeneron
The AI market is growing, but how quickly is tough to pin down
