News for the month of December 2020

The major December headlines were focused on the COVID-19 vaccine with both Moderna and Pfizer/BioNTech announcing FDA authorization in the US and first administrations of the Pfizer/BioNTech vaccine – to predominantly frontline workers – in progress. On the scientific front Nature published Nature’s 10 or the ten people that helped shape science and the path of COVID-19 in 2020 which includes Dr. Anthony Fauci, Gonzalo Moratorio (coronavirus hunter), Kathrin Jansen (mRNA vaccine developer at Pfizer), Zhang Yongzhen (posted 1st coronavirus sequence), Li Lanjuan (Wuhan lockdown architect), and Jacinda Ardern (New Zealand prime minister).

This December news update has been sponsored by:

COVID-19 / SARS-CoV-2

• Phase 3 trial of Novavax investigational COVID-19 vaccine opens The randomized, placebo-controlled trial will enroll approximately 30,000 people at approximately 115 sites in the United States and Mexico.
• The lightning-fast quest for COVID vaccines — and what it means for other diseases The COVID-19 experience will almost certainly change the future of vaccine science.
• Genetic mechanisms of critical illness in Covid-19
• Moderna Announces FDA Authorization of Moderna COVID-19 Vaccine in U.S.
• F.D.A. Advisory Panel Gives Green Light to Pfizer Vaccine
• The Swiss Cheese Model of Pandemic Defense
• Oxford COVID vaccine paper highlights lingering unknowns about results The Oxford–AstraZeneca partnership is the first major developer to publish detailed data from phase III trials.
• “Absolutely Remarkable”: Richard Scheller on COVID-19 Vaccine Breakthroughs Scheller discusses the COVID-19 vaccine breakthroughs with GV General Partner David Schenkein.

For more in-depth reading, our compiled COVID-19/SARS-CoV-2 news page lists selected coronavirus/COVID-19 news.

Funding

• Singlera Genomics raises $150 million in Series B financing to promote the development and commercialization of early cancer screening products
• Neuron23 Emerges With $113.5 Million
• Deepcell Closes $20 Million Series A Round to Develop AI-Powered Capture of Cells for Precision Medicine
• AstraZeneca to acquire rare disease specialist Alexion Pharmaceuticals, Inc. in $39 billion deal
• Tempus Announces $200 Million Series G-2 Financing
• Resolve Biosciences raises $24M in Series A, appoints Jason Gammack as CEO, and launches new single-cell spatial analysis platform
• Virta Health, a telehealth startup that aims to help people manage diabetes with frequent monitoring and dietary counseling, has raised $65M
• Olive Attracts Additional $225.5M Investment to Fast-Track AI Workforce For Healthcare
• Everlywell Announces $175 Million in Series D Financing to Expand Consumer Lab Testing and Digital Health Offerings

Mergers, Acquisitions, and Partnerships

• Agios sells cancer business to French drug maker for up to $2 billion, will now focus on inherited diseases
• Hummingbird Bioscience Announces Collaboration with Tempus to Harness AI-driven Precision Medicine to Accelerate Clinical Development of HMBD-001 In HER3 Driven Cancers
• AI company Olive Acquires AI Prior Authorization Company Verata Health
• Janssen acquires rights to gene therapy for macular degeneration Janssen Pharmaceuticals, Inc has announced the acquisition of rights to Hemera Biosciences, LLC’s investigational gene therapy HMR59.

Genomic / Genetic Testing

• Eric Schadt, PhD, on Predicting Disease Risk for Patients with Cancer The founder and CEO of Sema4 spoke about what health care providers currently lack in preventing and treating diseases and what the reality of early detection and disease prevention can provide to patients with cancer.
• The Best At-Home DNA Test Kits for Ancestry and Health

Artificial Intelligenc / Machine Learning

• Google releases DeepVariant v1.1 which includes DeepTrio, with superior accuracy for mother-father-child trio or parent-child duo compared to DeepVariant. Pre-trained models for Illumina WGS, WES, and PacBio HiFi.

Precision Medicine

• My Gene Counsel and Genomet Announce Product Partnership to Transform Cancer Care Around the Globe The joint product offering will bring together My Gene Counsel’s precision health platform for genetic counseling reports for clinicians and patients and Genomet’s virtual tumor board platform to allow health care systems and research foundations to draw on patient experiences, tap specific medical expertise, and explore options for therapeutics and clinical trials, all while continuously expanding their knowledge.
• The Personalized Medicine Report 2020 Published by the Personalized Medicine Coalition (PMC) highlighting that the number of personalized medicines on the market more than doubled between 2016 and 2020 with the largest growth seen over the 4-year period.
• All of Us Releases Initial COVID-19 Survey Data to Researchers Researchers will have access to information about All of Us participants’ experience with the COVID-19 pandemic through answers to survey questions on mental health, social distancing, and economic impacts. The new release also includes the program’s first set of Fitbit data, with information about participants’ physical activity and more.

NGS / Genomics Platform

• New Archive and Restore in BaseSpace Sequence Hub
• Leading UK Core Labs Expand Investment in PacBio Sequencing Systems to Power Life Science Research with HiFi Reads
• BGI Floats Idea of Tape-Based Sequencer The latest Omis! Omics! blog by Keith Robison
• The world’s first DNA ‘tricorder’ in your pocket Cold Spring Harbor Laboratory (CSHL) scientists developed the world’s first mobile genome sequence analyzer, a new iPhone app called iGenomics. The iPhone app was developed to complement sequencing devices made by Oxford Nanopore.
• PierianDx Announces Expanded Partnership with Illumina to Support Cancer Genomic Reporting in Global Markets

Proteomics

• UK Biobank launches one of the largest scientific studies measuring circulating proteins, to better understand the link between genetics and human disease A consortium of ten biopharmaceutical companies will perform a study to measure circulating concentrations of almost 1,500 plasma proteins in ~53K UK Biobank participants. It will be one of the world’s largest studies of blood protein concentrations conducted to date and aims to significantly enhance the field of ‘proteomics’, enabling better understanding of disease processes and supporting innovative drug development.

Publications

• Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high frequency of cancer prone syndromes
• Appetite regulating hormones are reduced after oral sucrose vs glucose: influence of obesity, insulin resistance and sex This study shows that sugary drinks’ have an effect on hormones which could spur weight gain. The majority of sucrose that people consume in the American diet comes from sugar-sweetened foods and beverages, whereas glucose is found naturally in most carbohydrate-containing foods, including fruits and whole grain breads.
• NIH researchers link cases of ALS and FTD to a mutation associated with Huntington’s disease
• Reversal of biological clock restores vision in old mice

Miscellaneous

• 20 cancer drugs approved in 2020
• Congress approves a boost for CDC funding, no growth for CMS in next fiscal year The package also includes a roughly 3% increase in funding for the NIH. The $1.4 trillion appropriations package would boost the NIH’s budget by $1.25bn to approximately $42.9bn. Of that total, $6.36bn would go to the NCI, $3.66bn to the National Heart, Lung, and Blood Institute, and $615.8M to the NHGRI.

• The psychiatrist at the centre of the opioid crisis A great article on opioid addiction, neuroscience, and Nora Vlokow, the head of the The National Institute on Drug Abuse (NIDA). Volkow has questioned the standards for approving addiction medication set by the FDA until it changed its policy in 2018.
• Nature’s 10: ten people who helped shape science in 2020 with COVID-19 researchers Includes Covid-19 researcher Dr. Anthony Fauci, Gonzalo Moratorio (coronavirus hunter), Kathrin Jansen (mRNA vaccine developer at Pfizer), Zhang Yongzhen (posted 1st coronavirus sequence), Li Lanjuan (Wuhan lockdown architect), and Jacinda Ardern (New Zealand prime minister).
• The 2020 Maddox Prize is jointly awarded to Anthony Fauci and Salim S. Abdool Karim
• The Annual Chan Zuckerberg Initiative Letter
• Google Cloud teams up with Deloitte, KPMG to launch healthcare interoperability program for providers and payers
• Doudna Talks Nobel Success and Women in Science Doudna discussed a broad range of topics, including how to celebrate a Nobel Prize in a #pandemic, what the award means for women in science, her views on mentorship, and her decision earlier this year to launch a high-throughput COVID-19 diagnostic lab.

News for the month of November 2020

During the month of November COVID-19 vaccines have been in the spotlight, as their development has steadily progressed with both the Pfizer/BioNTech and the Moderna vaccine showing comparable efficacy in the 95% range. These data points are based on Phase 3 studies. In addition, Oxford-AstraZeneca also announced promising results for their vaccine which are based on data from two separate late-stage clinical trials (with either 62 percent or 90 percent effectiveness, depending on the manner in which the doses were given). Given this progress, both Pfizer and Moderna filed for FDA emergency use authorization for their COVID-19 vaccine. Both the Pfizer/BioNTech and Moderna vaccines use a synthetic mRNA version derived from knowledge of the coronavirus genetic material. If the two vaccines are authorized for emergency use, there could be enough doses to immunize about 20 million Americans before the end of the year. Furthermore, Regeneron’s antibody cocktail (casirivimab and imdevimab) is the first combination therapy to receive FDA emergency use authorization for COVID-19.

This November news update has been sponsored by:

COVID-19 / SARS-CoV-2

• What’s happened to cancer clinical trials during the COVID-19 pandemic?
• Both Pfizer and Moderna file for FDA emergency use authorization for COVID-19 vaccine. Approval could potentially pave the way for the U.S. to have two COVID-19 vaccines in distribution by the end of the year.
• ‘The trend is irreversible’: How Covid-19 could drive a shift toward decentralized trials Clinical investigators have been forced to modernize their approaches out of necessity, incorporating digital tools to help recruit participants, monitor them remotely, and analyze data using artificial intelligence.
• A rapid at-home covid-19 test — for under $50 — just got FDA approval The California biotechnology company’s (Lucira Health) single-use home test kit, which it expects to sell for less than $50, requires a prescription from a doctor. 
• Pfizer Says Covid-19 Vaccine Is 95% Effective in Final Data, Will Seek Authorization Puts the vaccine shot’s performance at par with shingles and measles vaccines. The vaccine appeared to be well tolerated following a review of data from 8,000 study subject with no serious safety issues.
• Moderna’s COVID-19 Vaccine Candidate Meets its Primary Efficacy Endpoint in the First Interim Analysis of the Phase 3 COVE Study Phase 3 study met statistical criteria with a vaccine efficacy of 94.5% (p <0.0001) with the first interim analysis including 95 participants with confirmed cases of COVID-19
• Covid-19 vaccine candidate is 90% effective, says manufacturer The first interim results in large-scale trials of COVID-19 vaccine shows that the Pfizer/BioNTech candidate is 90% effective.
• Four ways Trump has meddled in pandemic science — and why it matters: Scientists sidelined, silenced and ignored; Expert advice ignored; Revered public-health report delayed; and COVID treatments prematurely approved.

Funding

• Elevation Oncology Announces $65M Series B Financing 
• SomaLogic Closes $121M Series A Financing Led by Casdin Capital
• Outcomes4Me Raises $4.7 Million to Help Patients Navigate Cancer Care Using AI
• Medable Locks In $91M Series C To Digitize Clinical Trials
• The cycling and running social platform Strava has raised $110 million in a series F funding round
• InterVenn Biosciences raises $34 million to accelerate ovarian cancer test development with AI (Series B)
• Congenica Completes $50m Series C Funding Round to Advance Clinical Genomic Analysis Software and Data Platform
• Corporate Matching $200K Challenge Through December 2020 at ACMG Foundation for Genetic and Genomic Medicine

Mergers, Acquisitions, and Partnerships

• Twist Bioscience, Illumina and Western Digital Form Alliance with Microsoft to Advance Data Storage in DNA
• PerkinElmer to Acquire Cell Engineering Company Horizon Discovery for $383 Million (£296 Million)
• Merck inks $2.8B VelosBio buyout to snag anti-ROR1 ADC ROR1 is a tyrosine-protein kinase transmembrane receptor thought to be overexpressed in multiple cancers. The target has attracted a small clutch of companies, including Bristol Myers Squibb’s Juno Therapeutics, but there are limited clinical data to show it works as hoped.
• Muscular Dystrophy Association (MDA) and DNAnexus Partner to Improve Neuromuscular Patient Care and Accelerate Drug Discovery
• DNASTAR Integrates Genomenon Mastermind Database for Human Variant Analysis
• UpHealth, Cloudbreak merge with blank check company in $1.35B deal

Genomic / Genetic Testing

• Invitae Corp Announces U.S. FDA Accepted Submission Of A Premarket Approval Application For A Companion Diagnostic Claim For STRATAFIDE
• Tempus Gets CE Mark for its Broad-Panel Genomic Sequencing Test
• Qiagen and BioNTech to develop test for head and neck cancer This CDx project will help to identify patients who might benefit from BioNTech’s innovative BNT113 treatment option

Artificial Intelligence / Machine Learning

• DeepMind’s AlphaFold has been validated as a solution to the ‘protein folding problem This breakthrough demonstrates the impact AI can have on scientific discovery and its potential to dramatically accelerate progress in some of the most fundamental fields that explain and shape our world.
• Roche Canada Launches National Artificial Intelligence Centre of Excellence The CoE – three national AI institutes under the CIFAR Pan-Canadian AI Strategy, Amii, Mila and the Vector Institute – will work to deliver quality AI based digital solutions that optimize and reduce the cost of healthcare delivery, improve health outcomes, and enable Canada to learn and nimbly respond to opportunities and potential challenges in the healthcare system.
• Machine-Learning Tool Improves Cancer Drug Response Prediction By using algorithms that learn transcriptome information from artificial organoids derived from actual patients instead of animal models, researchers increased the accuracy of anti-cancer drug response predictions.

Precision Medicine

• FDA releases final guidance on clinical trial diversity The 21-page document includes recommendations on how clinical trial teams can widen eligibility and enrollment for groups historically underrepresented in trials, such the Black and Latinx community, pregnant women and those with certain physical conditions.

NGS / Genomics Platforms

• PetaGene’s Customers Have Now Compressed One Million Genome Files PetaGene’s compression software preserves all of the file data in truly lossless compression. Additionally, these compressed files are transparently presented back in the identical original BAM/FASTQ.gz format to all tools and pipelines.

Liquid Biopsy

• Guardant Health and Foundation Medicine Face Off in Another Legal Battle
• Epic Sciences enters into exclusive licensing agreement and collaboration with usc Michelson Center to advance next-generation liquid biopsy technology for precision oncology

Telehealth

• Most clinicians can’t access telehealth directly from EHRs Although most providers say telehealth is positively influencing clinical outcomes, many say challenges remain – from workflow to reimbursement rates.

Publications

• Looking to Long-term Survivors for Improved Pancreatic Cancer Treatment
• Study of “exceptional responders” yields clues to cancer and potential treatments This study identified that for 26 of the 111 (24%) patients, the researchers were able to identify molecular features that could potentially explain exceptional responses to treatment, such as the co-occurrence of multiple rare genetic changes in the tumor genome or the infiltration of the tumor with certain types of immune cells.
• Send in the senolytics This Nature article discusses in detail the fight against senescence and how the pharma industry is picking it up.
• NIH researchers identify gene in mice that controls food cravings, desire to exercise The gene Prkar2a, is highly expressed in the habenula, a tiny brain region involved in responses to pain, stress, anxiety, sleep and reward. It is suggested that Prkar2a controls the craving for fatty and sugary foods and the desire to exercise.

Miscellaneous

• The researcher fighting to embed analysis of sex and gender into science On 25 November, the European Commission — one of the world’s largest research funders — said that it aims to make sex and gender analysis mandatory in the research it funds through its €85-billion (US$100-billion) Horizon Europe programme, which is set to begin in 2021. 
• Amazon likely to gain ‘major ground’ on CVS, Walgreens and other chains, analysts say
• Introducing Amazon Pharmacy: Prescription Medications Delivered Amazon Pharmacy, a new store on Amazon, which allows customers to complete an entire pharmacy transaction on their desktop or mobile device through the Amazon App. Using a secure pharmacy profile, customers can add their insurance information, manage prescriptions, and choose payment options before checking out. Prime members receive unlimited, free two-day delivery on orders from Amazon Pharmacy included with their membership.
• PierianDx Announces the Appointment of Mark McDonough as CEO
• 5 Top Human Genomics Startups Impacting The BioTech Sector
• Against all odds: The sheer force of immigrant startup founders
• Leading Diagnostics Companies Join Forces to Establish the Access to Comprehensive Genomic Profiling Coalition (ACGP) Consortium aims to make comprehensive genomic profiling accessible to advanced cancer patients in the U.S. to inform medical management and improve patient outcomes. Seven leading diagnostics companies and laboratory service providers have formed the Access to Comprehensive Genomic Profiling Coalition (ACGP) which are Exact Sciences, Foundation Medicine, Illumina, LabCorp, QIAGEN, Roche Diagnostics, and Thermo Fisher Scientific.
• Repositive expands CRO network with Pharmatest partnership This Finnish partnership enables Repositive to further grow its global reach to serve more biopharma companies in their quest for the right preclinical cancer models to accelerate oncology drug development programmes.
• The association between early career informal mentorship in academic collaborations and junior author performance

News for the month of October 2020

In 2020 for the first time in history, women almost matched the number of men to win a Nobel Prize in a given year across all categories. Of particular note this year Emmanuelle Charpentier and Jennifer A. Doudna jointly winning the Nobel Prize in Chemistry for the development of a method for genome editing. The Nobel Prize in Physiology or Medicine was awarded to Harvey J. Alter, Michael Houghton, and Charles M. Rice who made the discoveries that led to the identification of a novel, Hepatitis C virus.
Also this month, the sequences and characterizations of exomes from 49,960 individuals in the UK Biobank were released revealing about 4M coding variants across 1,730 phenotypes. In addition, at ASHG 2020, the gnomeAD v31 was released which adds 4,454 genomes totaling 76,156 whole genomes mapped to the GRCh38 reference sequence to gnomeAD. 

This October news update has been sponsored by:

COVID-19 / SARS-CoV-2

• Regeneron Antibody Cocktail Cuts COVID-19 Viral Load, ‘Medical Visits’ But number needed to treat is high, and issues of scale-up, cost remain
• Why isn’t routine Covid-19 testing happening in prisons and immigrant detention centers? Most testing performed in correctional and immigration detention facilities is still reactionary. In settings where even soap can be hard to come by, the lack of testing has proven to be a disaster. The infection rate in federal prisons and jails is nearly six times higher than the rate among the U.S. population, while the age-adjusted death rate is three times higher.
• Why COVID outbreaks look set to worsen this winter
• Remdesivir becomes first Covid-19 treatment to receive FDA approval
• Web tools to fight pandemics: the COVID-19 experience The current outbreak of COVID-19 has generated an unprecedented scientific response worldwide, with the generation of vast amounts of publicly available epidemiological, biological and clinical data. Bioinformatics scientists have quickly produced online methods to provide non-computational users with the opportunity of analyzing such data. This review reports the results of this effort, by cataloguing the currently most popular web tools for COVID-19 research and analysis.
• The Swedish COVID-19 Response Is a Disaster. It Shouldn’t Be a Model for the Rest of the World
• A COVID-19/Cancer Interplay – Study offers global review of COVID-19’s impact on cancer treatment and research
• White House approves FDA coronavirus vaccine standards it tried to derail

Check out our “COVID-19 / SARS-CoV-2” news page for a compilation of recent news and useful information.

Funding

• Scientific Knowledge Discovery Platform Pioneer, Eagle Genomics, Closes $9M in Scale-Up Funding as Major Brands Home in on the Microbiome Megatrend
• Scorpion launches in Boston with $108 million to go after targeted cancer drugs Scorpion will look to treat known molecular targets for cancer that have been previously dismissed as “undruggable,” hoping to create a line of new medicines. It will also work on a set of “best-in-class” medicines that will exploit the vulnerabilities of existing cancer therapies, aiming to spare healthy tissue and limit their side effects for cancer patients.
• Bringing their genetically modified gamma delta T cells to Nasdaq, IN8bio files for $86M IPO
• Federation Bio, a microbiome-based company, goes live with $50M to pursue microbial treatments
• Africa Pathogen Genomics Initiative Launches With $100M Investment The initiative expands genomics-based public health pathogen surveillance.
• Jennifer Doudna’s New Gene Editing Company Scribe Therapeutics Launches With A $20 Million Round To Develop Genetic Medicines
• SOPHiA Genetics Raises $110 Million In Oversubscribed New Funding Round (Series F)
• Monte Rosa Therapeutics Announces $96 Million Series B Financing to Advance Small Molecule-based Protein Degradation Platform.

Mergers, Acquisitions, and Partnerships

• Intermountain Healthcare and Sanford Health announce intent to merge This merger enables both organizations to move more quickly to further implement value-based strategies, realize economies of scale, and boost telehealth and digital health services.
• Exact Sciences Eyes Cancer Dx Leadership with Up to $2.5B in Deals for Thrive, Base Genomics The pair of acquisitions is designed to create a diagnostics powerhouse across multiple cancers. Exact Sciences said it agreed to acquire blood-based diagnostics developer Thrive Earlier Detection for up to $2.15 billion in cash and stock. Exact Sciences also said it completed a $410 million cash acquisition of Base Genomics, adding Base’s DNA methylation analysis technology, designed to detect cancer at its earliest stages.
• Clover Health Is Acquired in a $3.7 Billion Deal
• 10x Genomics Advances into Emerging Field of In Situ Analysis with Two Acquisition Acquires ReadCoor Swedish company CartaNA AB
• Invitae Completes ArcherDX Acquisition for upfront consideration consisting of 30.0 million shares of Invitae common stock and $325.0 million in cash
• Bristol Myers to Buy MyoKardia, FDA-Ready Heart Disease Drug for $13.1B

Genetic / Genomic Testing

• Strata Oncology Announces Medicare Coverage of StrataNGS Comprehensive Genomic Profiling Test for Patients with Advanced Solid Tumors Palmetto GBA, a Medicare Administrative Contractor (MAC), has established coverage of the StrataNGSTM test for patients with advanced stages (III or IV), recurrent, relapsed, refractory, and/ or metastatic solid tumors.
• FoundationOne CDx Wins Approval as Companion Diagnostic to Vitrakvi Vitrakvi is developed by Loxo Oncology, an Eli Lily company, and was awarded accelerated approval from FDA in November of 2018. Vitakvi is used for the treatment of adult and pediatric patients with solid tumors that have a neurotrophic receptor tyrosine kinase (NTRK) gene fusion without a known acquired resistance mutation, are metastatic or where surgical resection is likely to result in severe morbidity, and have no satisfactory alternative treatments or that have progressed following treatment.
• Foundation Medicine Expands Research & Development Operations in San Diego The site will primarily be used for additional research and development laboratories to accommodate expanded capabilities for the Cambridge-based, cancer genomics insights company.

Artificial Intelligence / Machine Learning

• AWS, PHDA Collaborate to Develop Breast Cancer Screening and Depression Machine Learning Models The project uses deep-learning systems to analyze mammograms in order to predict the short‐term risk of developing breast cancer. 

Liquid Biopsy

• Large-Scale Study Shows Guardant360 Liquid Biopsy Accelerates Clinical Trial Enrollment Compared to Tissue Biopsy Nature Medicine Publication reports that liquid biopsy more than doubles clinical trial enrollment rate compared to tissue biopsy.

Precision Medicine

• Q&A with Morgan Taschuk, OICR’s new Director of Genome Sequence Informatics Morgan Taschuk discusses the behind-the-scenes work essential to do cancer research at Ontario Institute for Cancer Research
• Assessing Participation Burden in Clinical Trials: Introducing the Patient Friction Coefficient An IQVIA research study
• Fabric Genomics Launches GEM Algorithm to Accelerate Genetic Disease Diagnosis, Provide Comprehensive Clinical-Decision Support
• Genomic study of 6000 NCI-MATCH cancer patients leads to new clinical trial benchmarks
• Genomics England Making Significant Strides in System Built on Trust in NHS The latest Mendelspod podcast with Genomics England CEO Chris Wigley.
• New strategy aims to make UK a genomics super-power The UK government has launched a new National Genomic Healthcare Strategy intended to secure the country’s future position as a global leader in genomics and create ‘the most advanced genomic healthcare system in the world’.
• BC Platforms Announces Colorado Center for Personalized Medicine Joins Global Data Partner Network BCRQUEST.com to advance Personalized Healthcare Research
• Genomenon’s Mastermind has 8X the Number of Variants Found in ClinVar
• Intermountain Healthcare Taps Kailos Genetics to establish a pharmacogenetic testing platform for the healthcare network.

NGS / Genomics Platforms

• Illumina second quarter revenue of $794 million is a 12% decrease compared to $907 million in the prior year period as per Illumina Reports Financial Results for Third Quarter of Fiscal Year 2020
• How Next-Generation Sequencing can help identify and track SARS-CoV-2 An Illumina Nature Advertorial providing an overview of two Illumina developed workflows to enable detection of coronaviruses from clinical samples, aiding diagnosis, surveillance and treatment development efforts.
• Illumina Pledges US $20 Million in Sequencing Tech for Africa  Illumina is joining a cross-sector partnership to support the Africa CDC Institute of Pathogen Genomics in launching the Africa Pathogen Genomics Initiative (Africa PGI). The initiative will expand access to NGS tools and expertise with the goal of strengthening pathogen capacity across the continent, including capacity building in 20-plus countries. Partners in the US $100 million initiative  include the US Centers for Disease Control and Prevention, the Bill & Melinda Gates Foundation, Oxford Nanopore Technologies, Microsoft, and others.
• Pacific Biosciences Launches the Sequel IIe System to Accelerate Adoption of Highly Accurate HiFi Sequencing The new system features advanced on-instrument data processing and cloud enablement to deliver HiFi data faster and with significant reduction in compute and data storage costs.

Microbiome

• Gut health benefits begin in utero Scientists studied 31 intestinal samples from humans at three different phases of development: the fetal stage, infancy, and later childhood. To their surprise, they found bacterial byproducts in all the samples, suggesting that the microbial components may be present prior to delivery. 

Digital Health

• Where will you stand in healthcare’s new world order? Rock Health explores the different types of digital health players, what they have to offer, and how incumbents can respond.
• How COVID-19 shifted healthcare executives’ technology priorities and what to expect in 2021

Publications

• Comparison of Universal Genetic Testing vs Guideline-Directed Targeted Testing for Patients With Hereditary Cancer Syndrome
• Colombian woman’s genes offer new clues to staving off Alzheimer’s
• Association of Uncommon, Noncoding Variants in the APOE Region With Risk of Alzheimer Disease in Adults of European Ancestry
• Researchers discover link between microRNA and metabolic disorders
• Exome sequencing and characterization of 49,960 individuals in the UK Biobank Describes the release of exome-sequence data for the first 50K study participants (of the total 500K), revealing approximately 4M coding variants (of which around 98.6% have a frequency of less than 1%) across 1,730 phenotypes.
• A special Science issue on Neurodegeneration – includes articles on Alzheimers, glymphatic failure and dementia, pathological phase transitions in neurodegenerative disease, new drug development, and how microglia modulates neurodegeneration in Alzheimer’s and Parkinson’s diseases.

Miscellaneous

• gnomAD v3.1 release The v3.1 data set adds 4,454 genomes, bringing the total to 76,156 whole genomes mapped to the GRCh38 reference sequence. The most recent exome release is available in gnomAD v2.1. The v2 data set (GRCh37/hg19) spans 125,748 exome sequences and 15,708 whole-genome sequences from unrelated individuals sequenced as part of various disease-specific and population genetic studies.
• Trump administration finalizes rule forcing insurers to disclose negotiated prices, including for drugs A caveat, however: These rules aren’t meant to come into place until Jan. 1, 2022.
• An Especially Inspiring Nobel Prize, and a Sign of More Work to Do For the first time in history, women almost matched men for Nobel Prize wars across all categories.
• Fresh Off Her Nobel Prize Win, Jennifer Doudna Predicts What’s Next for CRISPR The new Nobel laureate chats with ‘Future Human’ about what her gene-editing companies are up to.
• Lyft teams up with Epic to let hospitals schedule rides for patients from medical records system Two hospital networks have signed up so far: Ochsner Health in Louisiana and Tampa General in Florida. 
• The Nobel Prize in Chemistry 2020 was awarded jointly to Emmanuelle Charpentier and Jennifer A. Doudna “for the development of a method for genome editing.”
• The Human Genome Project turns the big 3-0! Celebrating 30 years of genomics that has transformed our understanding of life and improved health.
• The 2020 Nobel Prize in Physiology or Medicine is awarded to Harvey J. Alter, Michael Houghton and Charles M. Rice who made seminal discoveries that led to the identification of a novel virus, Hepatitis C virus. 

News for the month of September 2020

GRAIL was in the spotlight this September. News that it is to file for IPO was quickly followed by an announcement that Illumina will acquire GRAIL for cash & stock consideration of $8B. Illumina stock dropped after the announcement with many worrying about the size of the deal and that Illumina will be competing with its own customers. In coronavirus news, Moderna and Pfizer reveal secret blueprints for coronavirus vaccine trials. Moderna’s 135-page document spells out the details of how it is conducting the late-stage trial of its coronavirus vaccine, and how safety and efficacy will be determined. In the AI space, there has been a growing need for new clinical research guidelines to address the expanding role of AI in drug discovery. This month, the CONSORT 2010 released a statement with minimum guidelines for clinical trials of artificial intelligence in medicine to address this need. 

This September news update has been sponsored by:

COVID-19 / SARS-CoV-2

• COVID-19: All the wrong moves in all the wrong places These failures reflect a “perfect storm” of governmental ineptitude, scientific ignorance/misprioritization, and the abdication of medical training to market-driven forces.
• Moderna and Pfizer reveal secret blueprints for coronavirus vaccine trials to earn the trust of the public and of scientists. Moderna’s 135-page document spells out the details of how it is conducting the late-stage trial of its coronavirus vaccine, and how safety and efficacy will be determined.
• The lasting misery of coronavirus long-haulers Months after infection with SARS-CoV-2, some people are still battling crushing fatigue, lung damage, and other symptoms of ‘long COVID’.
• COVID-19 herd immunity: where are we? A great article on what it takes to achieve herd immunity, and this in relation to COVID-19.

Check out our “COVID-19 / SARS-CoV-2” news page for a compilation of recent news and useful information.

Funding

• From big deals to bankruptcy, a digital health unicorn falls short. Here’s what other startups can learn from Proteus.
• GRAIL announces filing of registration statement for proposed IPO.
• ClinSpec Dx receives £2.4m funding boost.
• Canexia Health closes new financing round to accelerate precision oncology roadmap.
• Recursion Gets Funding For New Drug Discovery With Bayer-led $239M Series D
• SoftBank Leads $100 Million Investment In AI And Digital Therapeutics Startup Biofourmis
• VA Extends Personalis Contract for Million Veterans Project with $31M Task Order

Mergers, Acquisitions, and Partnerships

• Gilead to buy cancer drugmaker Immunomedics for $21 billion
• Illumina to acquire GRAIL to launch new era of cancer detection Illumina & GRAIL have entered into a definitive agreement under which Illumina will acquire GRAIL for cash & stock consideration of $8B upon closing of the transaction.
• ‘The largest application we can imagine’: Illumina and Grail CEOs defend their deal to investors The $8B deal could mean that Illumina is competing with its own customers.
• Illumina in talks to reacquire its cancer blood test spinout, Grail According to a report from Bloomberg, Illumina has begun talks to acquire the company and could end up paying more than $8 billion, or a third more than its current $6 billion valuation.
• Thermo Fisher Partners with AstraZeneca, UNMC on Clinical Biomarker Analysis Workflows

Genetic / Genomic Testing

• AMA released its updated position statement on genetic testing and genomics in medicine 2020
• Invitae launches a multi-site study to evaluate the role of testing guidelines in ensuring access to genetic information for men with prostate cancer
• Fulgent Genetics, New York City Health and Hospitals Partner on Large-Scale Back-to-School COVID-19 Testing

Artificial Intelligence / Machine Learning

• Guidelines for clinical trial protocols for interventions involving artificial intelligence: the SPIRIT-AI extension. Reporting guidelines for clinical trial reports for interventions involving artificial intelligence: the CONSORT-AI extension “Consensus statements and guidelines for AI medical research by the SPIRIT-AI Steering and CONSORT-AI Consensus with a commentary by Eric Topol. 
• AI beyond the buzz: ‘The biggest element is the truth telling’

Precision Medicine

• Sema4 announces collaboration with Janssen on optimizing oncology clinical trials by leveraging advanced data analytics combined with genomic testing.
• Genomenon’s Mastermind has 23.6X more variants than HGMD
• Tempus and LabCorp announce collaboration to accelerate clinical trial patient participation
• Allscripts and Microsoft extend partnership for another five years The extension of their strategic has as a goal to enable the expanded development and delivery of cloud-based health IT solutions.
• Six genomics research projects receive grants to address the role of ethnicity in major cancers
• Kaiser Permanente Taps BC Platforms to Analyze Biobank, Clinical Data

NGS / Genomics Platforms

• Illumina collaborates with 54gene in the creation of a world-class genomics facility in Nigeria The partnership will support the establishment of a new genetics facility in Lagos, Nigeria, which will generate genetic information for health research and drug development.
• The (near) complete sequence of a human genome Pacific Biosciences  long reads technology (HiFi reads) served as the cornerstone technology for sequencing and assembly of the genome.
• Seven Bridges advances workflow automation capabilities to make complex multi-omic analysis more accessible to broader mix of users
• Google DeepVariant Boosts Accuracy of Indel Calls in PacBio Long Reads Google Health releases v1.0 of DeepVariant, which boosted accuracy of Indel calls in for PacBio long reads

Spatial Transcriptomics

• NanoString launches whole transcriptome Atlas under GeoMx Technology Access Program and names first GeoMx premier access sites

Pharma

• 3 key technology elements needed to accelerate a path to drug discovery

Forensic NGS

• Cold cases heat up with new forensic DNA methods Great read on Othram and how they apply advanced DNA analysis to forensic genealogy. Learn more about Othram in our interview with CEO David Mittelman. 

Data Sharing / Data Privacy

• Health data collected during the coronavirus pandemic needs to be managed responsibly The novel coronavirus has generated unprecedented urgency to learn from health data. There is a variety of data that are crucial to the pandemic response, but not all of these data are collected or governed by the same organization.
• Amazon partnered with Cerner to let patients share their Halo wearable data with providers
• Facebook appealing order by Ireland’s privacy regulator that could halt EU-US data transfers The social media company considers Ireland’s move premature.
• New legislation needed to increase Europe’s data flow The law may have to change to enable a healthy flow of European data according to a former European Commission Vice President. Jyrki Katainen was speaking at the HIMSS & Heath 2.0 European Digital conference today.
• Calif. Genetic Testing Privacy Bill Passes Assembly and Senate
• Data Sharing, Vigilance Pivotal in Maintaining Patient Safety While Treating Cancer Amid the COVID-19 Pandemic
• Survey: Future Benefit of Genomics at Risk Without Greater Public Trust

Publications

• Genome-wide maps of enhancer regulation connect risk variants to disease genes This study reveals insights into principles of genome regulation, illuminates mechanisms that influence IBD, and demonstrates a generalizable strategy to connect common disease risk variants to their molecular and cellular functions.
• Fueling cancer metastasis Study shows that before tumors begin to spread, they send out immune signals that cause neutrophils to accumulate lipids in the lung. These provide a source of “fuel” for metastatic cancers.
• Comparison of the Proportions of Female and Male Corresponding Authors in Preprint Research Repositories Before and During the COVID-19 Pandemic

Miscellaneous

• Cancer projects to diversify genetic research receive new grants to explore the ways race and ethnicity influence disease.
• ‘Invaluable’ database helps solve mystery of how genes are regulated The Genotype-Tissue Expression project has now mapped gene regulation in up to 54 tissues.
• Human Embryo Gene Editing Gets a Road Map—Not a Green Light After the 2018 “Crispr baby” scandal, a global commission assessed the technology and set strict criteria for moving it toward clinical trials.
• Rosalind Franklin and her work on virus structures The R.F. Society has put together a virtual exhibition to celebrate her life and achievements to mark 100 years since her birth.
• The controversial company using DNA to sketch the faces of criminals Parabon Nanolabs shot to fame using DNA and genealogy analysis to solve cold cases. Then it had to change tack.
• Don’t ignore genetic data from minority populations Efforts to build representative studies are defeated when scientists discard data from certain groups. Instead, researchers should work to balance statistical needs with fairness.
• The American Association for Cancer Research (AACR) has released its inaugural Cancer Disparities Progress Report, which aims to raise awareness of the disproportionate impact of cancer on racial and ethnic minority populations
• Experts say gene editing is too risky An international commission has stated that we need more research before gene editing can be used in babies and for now, the technique is too risky.

News for the month of August 2020

August brought big news on the Thermo Fisher-Qiagen deal. It fell apart after failing to secure shareholder support. Qiagen shareholders felt the company was worth more than Thermo Fisher was offering with the world clamoring for its COVID-19 diagnostic reagents and molecular testing supplies. Qiagen’s shares outpaced the original offer as sales jumped nearly 20%. Due to the agreement termination, Qiagen will pay to Thermo Fisher an expense reimbursement payment of USD 95 million in cash. Microbiologist Rita Colwell known for her pioneering research on cholera was interviewed this month on Marketplace about her new book (co-authored with Sharon Bertsch McGrayne) “A Lab of One’s Own: One Woman’s Personal Journey Through Sexism and Science.” She shares her hope that the future generations of female scientists will not face the sexism she regularly encountered in the field. 

This August news update has been sponsored by:

COVID-19 / SARS-CoV-2

• Abbott’s Fast, $5, 15-Minute, Easy-to-Use COVID-19 Antigen Test Receives FDA Emergency Use Authorization
• F.D.A. ‘Grossly Misrepresented’ Blood Plasma Data, Scientists Say (August 28) – Dr. Stephen M. Hahn, the F.D.A. commissioner, erroneously stated that convalescent plasma would have saved 35 percent of coronavirus patients this year. . Many experts — including a scientist who worked on the Mayo Clinic study — were bewildered about where the statistic came from.
• Moderna Wants to Transform the Body Into a Vaccine-Making Machine The U.S. company and its German rival BioNTech plan to use RNA as a messenger inside cells to produce an immune reaction. The advance could upend vaccine development long after the pandemic.
• Coronavirus Vaccine Tracker allows to see the status of all the vaccines currently developed around the world. Of the 165 vaccines currently in development, 31 are in human trials. 

Check out our “COVID-19 / SARS-CoV-2” news page for a compilation of recent news and useful information.

Funding

• Freenome closes $270 Million Series C to advance novel multi-omics blood testing platform for early cancer detection
• CancerIQ raises $5M in VC funding to further growth of its product offering and integration with EHRs and genetic testing partners.
• Atomwise raises $123 Million in Series B to further scale the largest artificial intelligence (AI)-driven drug discovery portfolio in history and expand $5 billion+ deal pipeline for small molecule drug discovery
• Mission Bio raises $70M in Series C to accelerate development of cancer therapies with single-cell multi-omics
• Biofidelity raises $12m in Series A to accelerate launch of disruptive cancer diagnostic technology
• Aetion completes $82M Series B round with $19M extension
• ImmunoScape raised USD $11 million (SGD $14.8 million) in a global equity financing round
• Pandemic provokes new wave of funding for healthcare start-ups

Mergers, Acquisitions, and Partnerships

• Genuity Science announces strategic collaboration with Nashville Biosciences
• Blackstone to acquire Ancestry®, leading online family history business, for $4.7 billion
• Thermo Fisher-Qiagen deal falls apart after failing to secure shareholder support
• Teladoc Health reaches agreement to buy Livongo in a $18.5 billion deal

Genetic / Genomic Testing

• Ancestry® Launches AncestryHealth® Powered by Next Generation Sequencing (NGS)
• FDA Approves Foundation Medicine’s FoundationOne®Liquid CDx Test
• Color has a better version of a simpler, faster Covid-19 test
• Helix receives FDA Emergency Use Authorization for the HelixⓇ COVID-19 NGS test, one of the first sequencing-based COVID-19 tests
• Most hospital, health systems see increase in genomics, genetics vendors they will partner with by 2023, report finds
• Introducing PGnomeⓇ – Whole Genome Sequencing from PreventionGenetics
• New Computational Tool from St. Jude Tackles ‘The Other 98%’ of Human Genome
• 23andMe received FDA clearance for PGS Carrier Screening Test for Bloom Syndrome
• GeneDx Enters into Agreement with Pediatrix Medical Group to Offer Neonatal Genomic Services
• Abbott to ship millions of $5, card-sized coronavirus tests offering ‘digital health passes’

Precision Medicine

• Precision Medicine Research Project Focuses on Rare Cancers TargetCancer Foundation (TCF) has announced the Target Rare Cancer Knowledge (TRACK) study, an initiative that leverages genomic analysis and precision medicine to provide patients and providers with personalized treatment recommendations.
• A Smart App for Precision Medicine
• Individual Circadian Clocks Might Be the Next Frontier of Personalized Medicine

NGS / Genomics Platforms

• NanoString extends leadership in spatial genomics with launch of GeoMx DSP Read-Out for Next Generation Sequencers NanoString Technologies released Cancer Transcriptome Atlas, a new product based on the company’s GeoMx digital spatial profiler (DSP) platform that’s optimized for readout on Illumina’s next-generation sequencing (NGS) technology.
• BaseSpace™ Sequence Hub V. 6.0 released New look, new user experience, run insights feature, run summary, etc.

Artificial Intelligence / Machine Learning

• AI Podcast with Lex Fridman talking to Manolis Kellis: Human Genome and Evolutionary Dynamics, discussing the beauty of the human genome, evolutionary dynamics, mutation, inheritance, viruses, language, free will, life, and more.
• Sophia Genetics’ New AI-driven DNA sequencing platform could predict COVID-19’s evolution Sophia Radiomics for COVID-19, is a newly launched platform that uses machine learning to analyze images of coronavirus patients’ lungs, as well as AI to map the genetic sequence and evolution of the virus.
• How an AI startup is disrupting pharma using convolutional neural networks – an interview with Atomwise CEO Abraham Heifets.
• Algorithm Created By “Deep Learning” Identifies Potential Therapeutic Targets Throughout Genome

Liquid Biopsy

• Guardant Health Guardant360® CDx first FDA-approved liquid biopsy for comprehensive tumor mutation profiling across all solid cancers

Data Sharing / Data Privacy

• Blackstone’s $4.7B acquisition of Ancestry raises privacy questions Privacy advocates have raised concerns over the deal — namely, what would happen to users’ health data?
• The EU is launching a market for personal data. Here’s what that means for privacy. In a radical shift for the EU’s data governance strategy, the Trusts Project promotes data sharing as a civic duty.
• Genetic privacy: We must learn from the story of Henrietta Lacks Her cells have been used in experiments in laboratories around the world but were cultivated without her consent. Eventually, her story led to the rewriting of the rules around ethics in healthcare.

Publications

• Next Phase of ENCODE Finds MORE Functional Information in Genome “Junk”
• Protein Interactions Point the Way to Drugs Against COVID-19
• The coronavirus may shut down the immune system’s vital classrooms

Miscellaneous

• An in depth analysis of Microsoft Azure’s FHIR API versus Google Cloud’s Healthcare API for FHIR
• Verily Life Sciences is creating a subsidiary to apply technology to a kind of employer-sponsored insurance known as “stop-loss.”
• “We don’t waste fellowships on women”: Microbiologist Rita Colwell on sexism in academia
• Expansion of Genomic Database can Address Health Disparities
• Scientists rename human genes to stop Microsoft Excel from misreading them as dates
• Amazon unveils Halo to battle Apple Watch and Fitbit — tracks activity, body fat, emotions

News for the month of July 2020

July brought the 100 year anniversary of Rosalind Franklin’s birth and we couldn’t agree more that “it’s time to recognize her for the full breadth and depth of her research career.“ COVID-19 vaccine development continues to speed along with a promising vaccine from Moderna. This the while the University of Oxford vaccine candidate might be through human trials in September. AstraZeneca has lined up agreements to produce 2 billion doses. In the liquid biopsy sector, researchers developed a promising blood test that detects stomach, esophageal, colorectal, lung, and liver cancer up to four years before symptoms appear. 

This July news update has been sponsored by:

COVID-19 / SARS-CoV-2

Check out our “COVID-19 / SARS-CoV-2” news page for a compilation of latest news and useful information.

NGS / Genomics Platforms

Illumina Launches TruSight Software Suite to Accelerate the Identification of Genetic Diseases The new offering – ready-made infrastructure for whole-genome sequencing for rare genetic diseases – enables sample-to-report analysis for genetic disease testing.

At-scale Genomic Data Compression, Storage, and Access Using PetaGene on AWS: Reference Architecture

Collaborative Environment Released for COVID-19 Host Response Research Illumina released a new collaborative environment for studying COVID-19 host response, leveraging BaseSpace Correlation Engine (BSCE).

Precision Medicine

Genomics England launches next-generation research platform central to UK COVID-19 response British tech company Lifebit and Amazon Web Services to support a dedicated environment for researchers working on COVID-19 vaccines and treatments.

Electronic health records haven’t delivered on their promise. Could COVID-19 change that?

Intermountain Healthcare Implements DeepThink Health’s Precision Intelligence Solutions to Manage its Molecular Tumor Board

Precision Medicine Projects to Accelerate COVID-19 Treatment

We need public health and personalized medicine to combat COVID-19—NOT one or the other

Clinical trials need to include more Black and other minority participants. The Covid-19 pandemic and the disproportionate devastation it has wrought on Black, Hispanic, and poor Americans has (again) raised the call for creating inclusive clinical trials that are representative of patient populations

A nonprofit just announced a 23andMe-like genomic sequencing model for a rare cancer—but it’s free The Multiple Myeloma Research Foundation (MMRF) is launching a new effort to provide cancer patients with personalized recommendations for dealing with their disease.

Data Sharing / Data Privacy

China’s massive effort to collect its people’s DNA concerns scientists Genetic material is being collected from men across the country to help solve crimes, but researchers worry the data will be misused.

EU strikes down key US data-sharing protocol, citing threat of mass surveillance US companies can’t be trusted with personal data, says top EU court.

Arrested under new law, Hong Kong protesters get swabbed for DNA

As data-sharing becomes more crucial, agencies say industry can help with privacy issues

Data sharing critical to close ‘innovation blackhole’ for rare diseases Access to data and ‘real-world evidence’ obtained from observational data is needed to help push research and innovation on rare diseases, stakeholders have said.

Research Data Alliance finalizes COVID-19 data sharing guidelines The report offers best practices and advice – around software, data-governance, legal and ethical considerations and more – for four key research areas: clinical data, omics practices, epidemiology and social sciences.

Genetic / Genomic Testing

Experimental Blood Test Detects Cancer up to Four Years before Symptoms Appear The assay looks for stomach, esophageal, colorectal, lung and liver malignancies, based on a new method reported in Nature Communications.

California Genetic Testing Company Agendia settles allegations of $8.25M Medicare Fraud

Pharma

Roche pays $775M upfront for Cambridge biotech’s sophomore cancer drug

23andMe and GSK Head to Clinical Trials With Cancer Drug

Miscellaneous

Amazon is piloting worker healthcare clinics near its warehouses The clinics are developed in partnership with Crossover Health which has built such facilities for Apple and Facebook, and was even rumored to be a potential target for an Apple acquisition a few years back.

This Company Wants to Rewrite the Future of Genetic Disease Tessera Therapeutics is developing a new class of gene editors capable of precisely plugging in long stretches of DNA – something that Crispr can’t do.

Retractions and controversies over coronavirus research show that the process of science is working as it should

‘Amazing, isn’t it?’ Long sought blood test for Alzheimer’s in reach

Noridian Aligns With Palmetto on Single-Gene, Multi-Gene PGx Test Coverage

Walgreens, DoorDash partner on nonprescription delivery orders

First studies from largest-ever human genome database released The Genome Aggregation Database aims to shed light on how genetic mutations can lead to disease.

Group calls for consistent use of genetic cancer terms A consortium of cancer patient advocacy groups and other stakeholders has recommended uniform use of common terms for biomarker and germline genetic testing to better educate the public and improve access.

NHGRI researchers generate complete human X chromosome sequence

COVID-19 Research: Women Are Changing the Face of the Pandemic The centenary of Rosalind Franklin’s birth is a fitting time to honor women leading the fight against the COVID-19 pandemic.

‘Amazing, Isn’t It?’ Long Sought Blood Test for Alzheimer’s in Reach

A brief history of the future of genomics

Artificial Intelligence

IBM’s New AI Tool Parses A Tidal Wave of Coronavirus Research Deep Search uses an advanced cloud-based natural programming language tool.

Microbiome

A Citizen Scientist Makes Her Mark in Microbiome Research The BioCollective, a company that transforms whole stool samples into microbial metadata, is developing the US’s first national microbiome reference material.

A unified catalog of 204,938 reference genomes from the human gut microbiome

Microbiome therapeutics and patent protection Obtaining patent protection for microbiome therapeutics has been affected profoundly by the US Supreme Court decisions in Myriad and Mayo, which redefined the scope of which natural phenomena, including microbiome therapeutics, are patent eligible.

Digital Health / Telemedicine

52% of Households Willing to Share Smartphone Data to aid in COVID-19 Contact Tracing

Uber launches service to help with COVID-19 contact tracing: report The contact tracing service will be provided for free, and is reportedly being introduced to public health officials in all countries where Uber operates. The service provides health departments with data about who used Uber’s services and when and allows health agencies to urge affected drivers and users to quarantine.

Publications

Rosalind Franklin was so much more than the ‘wronged heroine’ of DNA

When computational pipelines go ‘clank’ There are currently 17K tools in the bio.tools registry from more than 1,000 contributors. Makes pipeline building not easier!

Discovery of regulatory noncoding variants in individual cancer genomes by using cis-X

The histone H3-H4 tetramer is a copper reductase enzyme

Super-precise CRISPR tool enhanced by enzyme engineering

Structural cells are key regulators of organ-specific immune responses

Coffee, Caffeine, and Health Caffeine is “part of a healthy lifestyle” – 3-5 cups/day is consistently associated with reduced risk of several chronic diseases (not for prevention).

Mergers and Acquisitions

Thermo Fisher sweetens bid for Qiagen by €1bn after investor criticism, following a surge in demand for its coronavirus-testing equipment that led investors to push the diagnostics-maker to secure a higher takeover price.

Thermo Fisher’s sweetened Qiagen bit fails to win over key investors.

Funding

• Genome Medical raises $14M to expand virtual clinical genetics care and accelerate telemedicine technology development
• Nucleai secured $6.5M Series A initial closing led by Debiopharm to advance AI-powered precision oncology platform
• Sema4 closes $121M in Series C Led by BlackRock for a post-money valuation in excess of $1 billion
• NIH boosts genomics initiatives with $75M funding

News for the month of June 2020

June brought big acquisitions! One of our longtime customer, BlueBee, was acquired by Illumina to unify its data analytics products, while DNAnexus announced a $100M Series G investment round. Check out our interview with Hans Cobben, CEO of Bluebee and now Vice President of Software Platforms and Applications at Illumina, regarding the impact of this acquisition on the future of genomics data analysis and genomics applications in the clinical setting. Additionally, WuXi NextCODE restructured to become Genuity Science, Foundation Medicine acquired Lexent Bio, and Invitae acquired ArcherDX to create a global leader in comprehensive cancer genetics and precision oncology. They will bring germline and somatic testing, liquid biopsy, and tissue genomic profiling onto a single platform to offer patients a full suite of cancer testing for risk, therapy optimization, and personalized cancer monitoring.

This June news update has been sponsored by:

COVID-19 / SARS-CoV-2

Check out our “COVID-19 / SARS-CoV-2” news page for a compilation of latest news and useful information.

NGS / Genomics Platforms

Illumina Receives First FDA Emergency Use Authorization for a Sequencing-Based COVID-19 Diagnostic Test

PanCAN selects Seven Bridges for pancreatic cancer research to build a customised, integrated health data platform to accelerate research into pancreatic cancer.

Precision Medicine

QF scientists study Covid-19’s varying effect on different populations The interest is centered around how do genomic variations in hosts affect the way the virus behaves.

NorthShore makes genomic decision support available in Epic with help from ActX The health system has expanded its DNA-10K precision medicine program by integrating detailed pharmacogenomic information into its EHR workflows.

Geisinger, Siemens strike 10-year partnership which will give Geisinger access to Siemens’ diagnostic imaging equipment and digital health tools.

Collecting Genomic Data to Accelerate COVID-19 Drug Discovery Mount Sinai researchers have developed the COVID-19 Gene Set and Drug Library to leverage genomic data and facilitate collaborative drug discovery.

Seven Bridges Announces International Collaboration Focused on Personalized Treatment for Kids with Cancer

Genetic / Genomic Testing

Palmetto GBA Issues Final Local Coverage Determination on Pharmacogenomic Testing for Medicare Beneficiaries

Recommendations for designing genetic test reports to be understood by patients and non-specialists   A set of UK specialists make recommendations that address high-level needs of patients and their non-specialist clinicians when receiving genetic test results.

Researchers Present Evidence in Support of Broad Next Generation Sequencing in Advanced Nonsquamous NSCLC

Liquid Biopsy

More gain, less pain with liquid biopsies

Digital Health / Telemedicine

‘I can’t imagine going back’: Medicare leader Seema Verma calls for expanded telehealth access after Covid-19 as virtual visits have increased more than 40-fold in some parts of the country during the past three months.

Telehealth app Babylon Health allowed users to view other patients’ video consultations a data breach reported by a small number of users.

Artificial Intelligence

Interview with Insilico Medicine CEO Alex Zhavoronkov

Microbiome

Do Gut Bacteria Play a Role in Preecla

Patients with Hemorrhagic Brain Disease Have Distinct Gut Microbiomes

Miscellaneous

What’s next for healthcare in light of COVID-19 Darryl Jue of Accenture, Amanda Berra of Advisory Board, and Pete Masloski of ZS discuss how healthcare industry leaders must adapt to the forces that will become more prominent in the post-pandemic world.

Hospitals could struggle — and more will go bankrupt — until they get patients back in the door Many hospitals operated with thin margins before the Covid-19 crisis – April was one of the worst months ever for hospital operating margins.

The interface of genomic information with the electronic health record A points to consider statement of the American College of Medical Genetics and Genomics (The ACMG).

It’s Time for a New Kind of Electronic Health Record The Covid-19 pandemic presents the U.S. health care system with a mind-boggling array of challenges.

23andMe says it’s ‘part of the problem’ on racial inequity STAT asked five experts in genetics and in health disparities to weigh on what 23andMe and its competitors should do to address these problems.

Combating sexual harassment The editorial explains how this action bolsters NIH’s efforts to foster a culture whereby sexual harassment and other inappropriate behaviors are not tolerated in the research and training environment.

New consortium EUbOPEN will provide tools to unlock disease biology and aims to develop high quality chemical tool compounds for 1,000 proteins (one third of the druggable proteins in the human body).

Regulations on Genetic Data Could Threaten Genomics Innovation As genetic research relies more and more on digital technology, international regulations are straining to catch up and some fear they threaten to stifle innovation. Is it possible to develop a regulatory framework for genetic data that is fair for everyone?

GNS Healthcare Launches In Silico Multiple Myeloma “Patient”

Publications

A robust benchmark for detection of germline large deletions and insertions a Genome in a Bottle SV benchmark paper.

New DNA Sequencing technique may help unravel genetic diversity of cancer tumors Using a microfluidic-droplet-based single cell sequencing method, USC researchers have simultaneously sequenced the genomes of close to 1,500 single cells, revealing genetic diversity previously hidden in a well-studied melanoma cell line.

Why Most Published Research Findings Are False Simulations show that for most study designs and settings, it is more likely for a research claim to be false than true. For many current scientific fields, claimed research findings may often be simply accurate measures of the prevailing bias.

CRISPR‐TAPE: protein‐centric CRISPR guide design has been developed for targeted proteome engineering.

Genetic risk score can predict timing of fractures in elderly people and aid prevention

3D facial scans could speed diagnoses for children with rare genetic diseases Researchers combine 3D imaging and machine learning to create prototype diagnostic tool.

Mergers and Acquisitions

Illumina Acquires BlueBee to Accelerate Processing, Analysis and Sharing of Next Generation Sequencing Data at Scale

Invitae and ArcherDX to create a global leader in comprehensive cancer genetics and precision oncology The ArcherDX acquisition transaction is valued at ~$1.4B and expected to close in several months, subject to customary closing conditions including approval by the stockholders of Invitae and ArcherDX.

WuXi NextCODE Restructures and Becomes Genuity Science

Foundation Medicine Acquires Lexent Bio, Inc., to Accelerate Liquid Biopsy Research and Development, and Advance Cancer Care

Partnership between Q2 solutions and Thermo Fisher Scientific to speed up oncology clinical trials

Funding

Base Genomics announces company launch and raises $11M USD to commercialize epigenetic technology for early and sensitive detection of cancer from liquid biopsy

DNAnexus Completes $100 Million Financing

ArcherDX drops IPO plans in favor of a $1.4B takeover by Invitae

Ranking of the 40 top startup hubs in the world The top five global startup ecosystems remain the same, although with some movement within them. Silicon Valley maintains its #1 position. New York remains at #2, although now London is up and tied with it. Beijing is at #4 and Boston is at #5.

News for the month of May 2020

This month seven Nature papers explore different scientific aspects of the gnomAD data collection which includes more than 140,000 exomes and genomes. genomAD is a critical resource that is used across the globe by clinical researchers and labs to annotate every single, disease causing candidate variant. Years of work went into the creation of the gnomAD database. 

This the while COVID-19 is disrupting healthcare and is giving telemedicine a boost – examples include Medicare & Medicaid services’ expansion of coverage of telehealth therapist visits. Additionally, COVID-19 constraints are pushing healthcare organizations to innovate around the consumer.

This May news update has been sponsored by:

COVID-19 / SARS-CoV-2

Check out our “COVID-19 / SARS-CoV-2” news page for a compilation of latest news and useful information.

NGS / Genomics Platforms

DNAnexus has partnered with NVIDIA Clara Parabricks to accelerate NGS data processing

TrueGenomics Partners with BlueBee to Create the Next Generation Behavioral Science Data Ecosystem

Two years in, DRAGEN roars It has been two years since Illumina acquired Edico Genome and its DRAGEN™ technology. DRAGEN is fully integrated with Illumina sequencers, library prep kits, and a comprehensive software suite. This Illumina authored article discusses the details of the integrated, expanded sequencing portfolio.

Focusing on the Genes that Matter Most: 10x Genomics Launches Targeted Gene Expression Solution

Precision Medicine

Fitbit launches large-scale consumer health study to detect a-fib via heart rate sensors, algorithm The effort is looking to enroll 200,000 to 250,000 device owners and will support clinical evaluation and regulatory submissions of the company’s PPG atrial fibrillation algorithm.

Regeneron And Colorado Center For Personalized Medicine announce major new human genetics research collaboration to will sequence 450,000 informed and consenting patients. Sequencing data will be paired with de-identified health records to aid in genomic medicine, drug discovery, and personalized medicine approach.

Precision Medicine Vision Statement created by the Global Precision Medicine Council of the World Economic Forum.

QIAGEN launches QCI Interpret One which combines QIAGEN Clinical Insights solutions with N-of-One services to deliver interpretation of somatic variants in cancer patients.

Apple Heart Study researchers find success in recruitment, struggle with engagement The challenges are engagement. It’s not easy to do this & keep patients involved. You can’t keep sending them notifications & push alerts to remind them to do this in the study.

Tech optimization: Unlocking the promise of precision medicine In this special report, seven experts in personalized medicine – from Accenture, CereCore, Chilmark Research, Deloitte and Orion Health – offer best practices for optimizing technology to help health systems advance innovation.

All of Us Research Program Begins Beta Testing of Data Platform – Researchers Invited to Give Feedback on Initial Dataset and Tools

CRISPR/ Cas-9

First CRISPR test for the coronavirus approved in the United States The Sherlock Biosciences developed kit works by programming the CRISPR machinery to detect a snippet of SARS-CoV-2 genetic material in a nose, mouth or throat swab, or in fluid from the lungs. If the virus’s genetic material is found, a CRISPR enzyme generates a fluorescent glow. The test can return results in about an hour.

Digital Health/ Telemedicine

How coronavirus accelerated the rise of telemedicine

CMS expands COVID-19 telehealth reimbursement to therapists, phone services

COVID-19 constraints push healthcare organizations to innovate around the consumer

Amazon extends telemedicine pilot to warehouse employees in Seattle area

Premera Blue Cross is launching its first-ever virtual primary care plan The virtual primary care plan, dubbed Premera Now, is developed in partnership with primary care telehealth company 98point6. The plan will be available to employers in Washington state starting October 1st.

Miscellaneous

Meet this super-spotter of duplicated images in science papers Elisabeth Bik quit her job to spot errors in research papers — and has become the public face of image sleuthing.

Apple and Google launch exposure notification API, enabling public health authorities to release apps

Microsoft announces Cloud for Healthcare, first industry-specific cloud service

Natera and Illumina Settle Patent Dispute

Google develops AI to identify patients at high risk of blindness

An interview with Mike Klein, CEO of Genomenon He talks to RARE Revolution about the impact technology is having on diagnosing rare diseases and contributing to drug development, and about the exciting potential that lays ahead.

Artificial Intelligence

NVIDIA has developed new artificial intelligence and genomic sequencing capabilities to help researchers track and treat COVID-19

Publications

Years of work went into gnomAD which is now up at Nature  7 peer-reviewed papers explore different scientific aspects of this data collection which includes more than 140,000 exomes and genomes.

New computational method unravels single-cell data from multiple people The methodology called souporcell, for assigning the donor in single cell RNA sequencing experiments, provides an accurate way to unravel data from a mixture of people.

The human tumor microbiome is composed of tumor type–specific intracellular bacteria

Pan-cancer analysis of advanced patient tumors reveals interactions between therapy and genomic landscapes

Mergers and Acquisitions

Roche acquires Stratos Genomics to further develop DNA based sequencing for diagnostic use

Merck to Acquire Austrian Vaccine Maker Themis Bioscience to enter COVID-19 race  Themis has a broad pipeline of vaccine candidates and immune-modulatory therapies developed using its innovative measles virus vector platform based on a vector originally developed by scientists at the Institut Pasteur and licensed exclusively to Themis for select viral indications. 

UnitedHealth’s Optum is in advanced talks to acquire remote mental health provider AbleTo for about $470 million

NanoString and OnRamp BioInformatics Partner to Develop Cloud-Based Analysis Solutions for nCounter Data

Gilead Sciences and Arcus Biosciences Establish 10-year Partnership to Co-develop and Co-commercialize Next-generation Cancer Immunotherapies

Funding

GRAIL announces $390 million series D financing

Immunai raises $20M to provide a complete understanding of the immune system with single cell profiling

Nautilus emerges with $76M in Series B to become the ‘Illumina of proteomics’

Benchling raises $50M series D to accelerate biotech revolution This brings the total funding to $114M at a valuation of $850M.

Synthetic bio pioneer Ginkgo raises $70 million to tackle Covid-19 testing

Syapse announces $30M financing to advance the use of real-world evidence

Oxford Nanopore announces £48.4M ($59.2M) in new capital to support ongoing innovation and the rapid worldwide growth of nanopore sequencing

San Francisco startup Arterys dealing in cloud-based AI imaging technology raises $28M

News for the month of April 2020

In April, the scientific community worldwide focused on studying COVID-19 / SARS-CoV-2 with the goal of finding a treatment and a vaccine. The race for coronavirus vaccines is on with more than 90 vaccines currently being developed in companies and universities across the world, the new Gilead remdesivir data likely show enough for a speedy FDA approval, and the NIH is mobilizing a national innovation initiative (RADx) for COVID-19 diagnostics with a $1.5 billion investment from federal stimulus funding to speed development of rapid and widely accessible COVID-19 testing. COVID-19 news is coming out at such a rapid pace that we are sharing highlights on a dedicated “COVID-19 / SARS-CoV-2” news page, while here we report our regular precision medicine and genetics news for the month of April.

COVID-19 / SARS-CoV-2

Check out our “COVID-19 / SARS-CoV-2” news page for a compilation of useful information.

Precision Medicine

Protected Health Information filter (Philter): accurately and securely de-identifying free-text clinical notes
The Butte Lab manually deidentified 4500 notes of 100 different kinds (out of 70 million), used 2500 to build and 2000 to test. Two annotators per note. This might be the largest set of deidentified notes disclosed to date.

Google Cloud launches Healthcare API and other solutions for supporting healthcare and life sciences organizations during the pandemic
The API allows healthcare organizations to ingest and manage key data from a range of inputs and systems – and then better understand that data through the application of analytics and machine learning in real time, at scale.

Personalized Medicine Approach May Extend Polygenic Scores to Individuals with Multiple Ancestral Origins
Proposes a method to extend polygenic scores—the estimate of genetic risk factors and a cornerstone of the personalized medicine revolution—to individuals with multiple ancestral origins.

ONC Projects Aim to Standardize SDOH Data for Precision Medicine

World’s leading biobanks join BC Platforms’ Global Data Partner Network to advance personalized healthcare research

Miscellaneous

Craig Venter: 20 years of decoding the human genome
The human genome is 99% decoded, the American geneticist Craig Venter announced two decades ago. What has the deciphering brought us since then?

Google will guide users to virtual doctor’s visits through Search and Maps
This will make it easier for consumers to access virtual medical care options, via Search and Maps which will also help doctors get up to speed with phone and video-based consultations.

Publications

GWAS of three molecular traits highlights core genes and pathways alongside a highly polygenic background

Ancestry deconvolution and partial polygenic score can improve susceptibility predictions in recently admixed individuals

Cytokine release syndrome in severe COVID-19

Liquid Biopsy

Liquid biopsy test detects more than 50 cancer types
Grail said results of its Circulating Cell-Free Genome Atlas study show its technology can detect 50 cancer types across all stages with a very low false-positive rate.

Merger and Acquisition

Genalyte expands laboratory services offering with acquisition of BaseHealth

Funding

Digital health firms raised record sums before Covid-19 hit
Digital health startups raised a total of $3.1 billion in funding during the first quarter of 2020, according to a report released Monday by Rock Health. But startups face a dramatically different investing climate post-Covid-19.

African genomics startup 54gene raises $15M in Series A

Lifebit Closes $7.5M Series A Round to Accelerate Global Market Expansion

Invitae Announces Pricing of Public Offering of Common Stock

BRIEF-Invitae Corp Withdrawing Its Revenue, Test Volume And Cash Burn Guidance For 2020

News for the month of March 2020

In March, the coronavirus, SARS-CoV-2, reached every aspect and even the most remote corner of our daily lives. We, therefore, have decided to compile a list of relevant news and announcements, developments, and useful links in relation to this viral outbreak on a “COVID-19 / SARS-CoV-2” news page. 

Also noteworthy this month was that the government released rules aimed at better EHR interoperability, citing that it is vital for information to flow during outbreaks like COVID-19. Epic Systems Corp. had initially opposed the rules but it is not clear yet if the updates made addressed its concerns about privacy and costs.

Coronavirus

The COVID-19 situation is rapidly changing. For this reason, we have dedicated an entire page, the COVID-19 / SARS-CoV-2 news page, where we list important announcements and resource links pertaining to this virus. We will update this page on a regular basis. Here just a few COVID-19/SARS-CoV-2 highlights. 

Cryptic transmission of novel coronavirus revealed by genomic epidemiology
An informative piece on genomic epidemiology applied to COVID-19.  It is encouraging that we can sequence, share and analyze pathogen data so quickly today.

Over 24,000 coronavirus research papers are now available in one place
The data set aims to accelerate scientific research that could fight the Covid-19 pandemic.

The CDC has started started a collection of SARS-CoV-2 sequencing and bioinformatic protocols, metadata guidance, scripts/workflows, links and best practices
SARS-CoV-2 Sequencing Resources..

UK launches whole genome sequence alliance to map spread of coronavirus with £20 million investment
COVID-19 Genomics UK Consortium – comprised of the NHS, Public Health Agencies, Wellcome Sanger Institute, and numerous academic institutions – will deliver large scale, rapid sequencing of the cause of the disease and share intelligence with hospitals, regional NHS centres and the government.

Genetics/Genomics Testing

Blue Shield of California becomes first health plan in the U.S. to cover the cost of rapid whole genome sequencing for critically ill children
Critically ill children, up to age 18, hospitalized in neonatal or pediatric intensive care at any location with an undiagnosed condition may be eligible.

You can learn a lot about yourself from a DNA test. Here’s what your genes cannot tell you
A Time magazine article discussing the pros and cons of genetic testing.

Whole genome sequencing Under GenomeIndia project started
The proposed target of WSG is to do it for 10,000 individuals representing the country’s diverse population.

Mayo researchers recommend all women with breast cancer diagnosis under age 66 be offered genetic testing
A study by researchers at Mayo Clinic published this week in the Journal of Clinical Oncology suggests that all women with a breast cancer diagnosis under the age of 66 be offered germline genetic testing to determine if they have a gene mutation known to increase the risk of developing other cancers and cancers among blood relatives.

Invitae and Muscular Dystrophy Association (MDA) Expand Access to No-Charge Genetic Testing in the U.S. and Canada

NGS / Genomics Platforms

$100 genome sequencing will yield a treasure trove of genetic data
BGI claims it has created a system that can sequence a full genome for just $100.

Precision Medicine

Most comprehensive analysis of human genetic diversity to date
A new study has provided the most comprehensive analysis of human genetic diversity to date, after the sequencing of 929 human genomes by scientists at the Wellcome Sanger Institute, the University of Cambridge and their collaborators.

Precision medicine: course correction urgently needed
An undeclared civil war is breaking out in biomedicine. On one side is precision medicine, with its emphasis on tailoring treatments to ever-narrower groups of patients. On the other side is population health, which emphasizes predominantly preventive interventions that have broad applications across populations.

New Genomics Clinic Will Enable Preventive Care, Precision Medicine
The Preventive Genomics Clinic at Mass General will provide patients with genetic information and advance precision medicine.

Janssen Taps Digital Biomarker Company Vivante Health for Predictive Disease Modeling
The goal of the collaboration with digital medicine company Vivante Health is to identify and develop digital biomarkers.

Henry Ford Receives $25M Grant to Expand Precision Medicine Program The grant will be used to accelerate its precision medicine program, with the ultimate goal of creating a Precision Health Center.

How genomics is transforming cancer treatment

Ultra-fast genome sequencing could save the lives of newborns

Data Sharing/ Data Privacy

Gov’t takes steps toward better EHR interoperability
Hospitals and doctors to provide software access points/endpoints to their [EHR] databases so that patients can download these records to their smartphones.

Federal rules impacting Epic Systems Corp., patient data released
The rule requires full exports of patient data, beginning in three years, to patients or hospitals if requested.

Many willing to trade genetic data for compensation, control
More than half of Americans want money and control when companies or organizations use their genetic data, a new study suggests.

Digital Health/ Telemedicine

Coronavirus response could give long-awaited jolt to telehealth
Telehealth may be about to boom as federal officials push doctors to video chat with patients, hoping to reduce stress on hospitals preparing for a flood of coronavirus cases.

Telemedicine companies are struggling to serve ‘extreme volumes’ of patients as coronavirus calls surge
Telemedicine companies are struggling to serve ‘extreme volumes’ of patients as coronavirus calls surge.

Miscellaneous

Amazon is secretly working on a cure for the common cold

Mergers, Partnerships, & Acquisitions

Thermo Fisher is buying Qiagen for $11.5 billion
The transaction is expected to be completed in the first half of 2021.

Invitae acquires Diploid, maker of artificial intelligence engine to enable clinical diagnosis using whole-genome sequencing in minutes

Publications

An atlas of the protein-coding genes in the human, pig, and mouse brain
Accessible via the open-access HPA Brain Atlas resource portal which offers the opportunity to explore individual genes and classes of genes and their expression profiles in the various parts of the mammalian brain.

AI finds microbial signatures in tumours and blood across cancer types
Analysis of nucleic-acid sequences from human cancers, along with samples from adjacent tissue and blood, reveals the presence of microorganisms in tumours and blood across cancers.

AI is being used to discover new antibiotics and genes linked to disease

Genome sequencing method identifies genes resistant to chemotherapy

AI Discovers Smell Genes Linked To Cancer Outcomes

WGS study in Finns Finds Genes Linked with Diabetic Nephropathy

Funding

Tempus raises $100 million in Series G financing at a post-money valuation of $5 billion dollars
The company is using the additional funds to further enhance its operations and continue its expansion into other disease areas, including diabetes, depression, and cardiology.

Cell and gene therapy company ElevateBio raises $170M in Series B

Impossible Foods Continues Growth Trajectory With $500M Series F

News for the month of February 2020

The coronavirus, COVID-19, was front and center in February’s news. The Institut Pasteur announced that it has sequenced the whole genome of the Wuhan 2019-nCoV virus, becoming the first institution in Europe to do so. In the hopes of quickly developing a treatment, The University of Nebraska Medical Center in Omaha has begun an NIH clinical trial of remdesivir to treat COVID-19. 

In the cancer genomics space, the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium presented the most comprehensive and ambitious meta-analysis of cancer genomes so far. The group sequenced 2,658 whole-cancer genomes from 38 tissues and 1,188 transcriptomes!

This January news update has been sponsored by:

Coronavirus

Whole genome of the Wuhan coronavirus, 2019-nCoV, sequenced
Around twenty other sequences of the novel coronavirus genome have been obtained worldwide, and if compared to first sequenced, they are all very close; there is not much diversity in the viruses analyzed, which suggests that coronavirus 2019-nCoV did not need to mutate in order to adapt and spread.

NIH clinical trial of remdesivir to treat COVID-19 begins
Remdesivir, developed by Gilead Sciences Inc., is an investigational broad-spectrum antiviral treatment.

Huge potential in studying the tiny: Sequencing genome of coronavirus from Wuhan could lead to vaccines

Genetics / Genomics Testing

Consumer DNA testing hits a rough patch: Here’s how companies like Ancestry and 23andMe can survive
It’s not all bad news. Both companies have an opportunity to shift their business models away from wellness and ancestry and into the medical sector.

Why DNA tests are suddenly unpopular
23andMe and Ancestry are laying off workers as interest in their DNA tests declines – Privacy concerns and limited utility.

ASHG survey finds americans strongly support human genetics research & potential
Respondents want confidence in data privacy, have some knowledge gaps.

Ancestry lays off 6% of staff as consumer genetic testing market continues to decline

NGS / Genomics Platforms

Dr. Scott Gottlieb, former US FDA Commissioner, joins Illumina’s Board of Directors

Bio-Rad Laboratories products indirectly infringe 10x Genomics patents, USITC confirms

MGI announced the commercial availability of its sequencing instruments and reagent kits in the US based on MGI’s CoolMPS™ sequencing chemistry, starting in April of this year

Twist Bioscience secures $140M plus a slew of new DNA partnerships including with SOPHiA GENETICS to offer optimized genomic solutions
The team-ups are working on delivering a new solution focused on data and genomic analysis, with the help of Sophia Genetics, as well as the development of target enrichment tools and library preparation kits through collaborations with GenapSys and Miroculus.

Twist Bioscience and SOPHiA GENETICS collaborate to offer optimized genomic solutions

From bench to clinic—The potential of new sequencing tools

BC Platforms supports University of Nottingham launch of ATLAS, a health data discovery platform for the UK’s national biobank network

Precision Medicine

Epic: How a company you never heard off handles your medical records
A CBS story about Epic with a reference to physician burnout but zero discussion about interoperability gaps. Epic should be credited for Epic to Epic data exchange. But the whole problem is Epic to anything else.

Epic and about 60 hospital chains come out against rules that would make it easier to share medical info

Patients with challenging cancers to benefit from genomic sequencing
More than 1000 Victorian cancer patients are set to benefit from real-time genomic testing in the next three years, aiming to improve diagnosis and provide more targeted and effective treatments for cancers of unmet need. The $6M Cancer of Unmet Need Initiative is the first project of a partnership announced last year by University of Melbourne and Illumina.

NHGRI establishes new intramural precision health research program
Program aims to capitalize on growing availability of large-scale genomic and health record data worldwide to advance the science of precision health.

Verana Health aims to organize and analyze doctors’ clinical data sets, whether patients like it or not
If the two-year-old healthcare startup Verana Health has its way it could become the Google for physician generated healthcare data.

Genome India Project: A boon for personalized medicine that mustn’t be misused for origin-tracing
The Genome India Project aims to map the diversity of India’s genetic pool, and “lay the bedrock of personalized medicine.” This will be a collaboration between 20 Indian research institutions with the goal to develop a reference Indian genome using genetic samples from 10,000 persons across India.

Germline and somatic tumor testing in epithelial ovarian cancer

Data and technology to play key role in Europe’s Beating Cancer Plan, says EU chief

Dubai’s Al Jalila Children’s hospital launches genetic testing centre

Artificial Intelligence

The advances of AI in healthcare
In April, NHSX, the unit whose remit is to deliver the digital transformation of the health service, will begin running a new artificial intelligence (AI) lab.

AI identifies powerful new antibiotic that can kill drug-resistant bacteria

Data Sharing / Data Privacy

Your data is valuable. You should decide who can access it

Microbiome

Drugs from bugs: Why Gates, Zuck And Benioff think the next blockbusters will come from inside your gut
Discusses startups that tackle the microbiome such as Finch Therapeutics, Open Biome, Vedanta Biosciences, Vioma, and Axial Biotherapeutics.

Liquid Biopsy

How simple blood tests could revolutionize cancer treatment
The latest DNA science can match tumor types to new treatments, and soon, a blood test might be able to detect early signs of cancer.

Miscellaneous

Boosting cancer research by unlocking genomic data
An interview with Fiona Nielsen, co-founder and CEO of Repositive.

The next deadly pathogen could come from a rogue scientist. Here’s how we can prevent that.

Harnessing genetic suppression to treat rare disease

We’ve sequenced the human genome. So why haven’t we cured more diseases?

Publications

Global genomics project unravels cancer’s complexity at unprecedented scale
A massive international effort has yielded multifaceted studies of more than 2,600 tumours from 38 tissues, generating a wealth of insights into the genetic basis of cancer. The The findings of an unparalleled, decade-long collaboration that explored the entire cancer genome is presented in the Feb 5 journal of Nature in 23 papers. 

Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging

Unprecedented study yields most comprehensive map of cancer genomes to date
Most comprehensive study of whole cancer genomes to date, improves fundamental understanding of cancer, suggests new directions for diagnosis & treatment – this PCAWG or the Pan-Cancer Project analyzed more than 2,600 genomes of 38 different tumor types.

Gut feelings: Gut bacteria are linked to our personality
Both the gut microbiome composition and diversity were related to differences in personality, including sociability and neuroticism. Sociable people have a higher abundance of certain types of gut bacteria and also more diverse bacteria.

Single-cell sperm transcriptomes and variants from fathers of children with and without autism spectrum disorder

Gut microbiota plasticity is correlated with sustained weight loss on a low-carb or low-fat dietary intervention

Mergers, Partnerships, and Acquisitions

Foundation Medicine, Chugai ink partnership with NCC for use of FoundationOne Liquid in third stage of SCRUM-Japan

Funding

OncoDNA announced that it has completed a €19 million ($20 million) Series B equity financing

Q Bio raises $40M in series B financing round

Twist Bioscience secures $140M

News for the month of January 2020

2020 kicked off with substantial funding rounds for DNA sequencing technology companies. Omniome, Element Biosciences, Oxford Nanopore, Roswell Biotechnologies, and Single Technologies all received financing to advance their respective NGS technologies with the goal to increase sequencing performance, accuracy, speed, throughput, while making it cost-efficient.

In spite of stellar funding news, there are signs of the direct-to-consumer segment slowing down as noted last year by Illumina CEO Francis deSouza in their summer earnings call. The market turn was mirrored in a DNA test sales decline which resulted in 23andMe announcing layoffs of 100 people. Lastly, Illumina and PacBio have terminated their planned $1.2bn merger after being challenged by anti-monopoly agencies in the US and UK. 

This January news update has been sponsored by:

Genetics / Genomics Testing

23andMe lays off 100 people as DNA test sales decline, CEO says she was ‘surprised’ to see market turn
The signs of a slowdown in the space came last summer when Francis deSouza, CEO of Illumina, noted in its earnings call that the entire segment was down.

23andMe co-founder’s new startup, Precise.ly, brings genomics to India through Narayana partnership
Precise.ly is taking the spin on direct to consumer personalized genomics to India through a partnership with Naryana Health, one of India’s leading specialty hospital networks (24 hospitals serving 2.5 million patients).

NGS / Genomics Platforms

Illumina, PacBio scrap $1.2bn merger, citing “continued uncertainty”
Illumina and Pacific Biosciences will “mutually” terminate their planned $1.2bn merger, a deal threatened in recent weeks by anti-monopoly regulatory agencies in the United States and the U.K.

Illumina announces new sequencing system, partnership with Roche and Software Suite to accelerate adoption of genomics
At the Annual J.P. Morgan Healthcare Conference, CEO Francis deSouza, announced a 15-year, non-exclusive collaboration agreement with Roche, in addition to announcing the NextSeq™ 1000 and NextSeq 2000 Sequencing Systems offering which includes on-instrument integrated informatics for rapid secondary analysis.

Precision Medicine

Germany joins the 1+Million Genomes Initiative
Germany signed the Declaration “Towards access to at least 1 million sequenced genomes in the EU by 2022”. The Declaration, launched in 2018, established a collaboration mechanism on human genome data aiming to improve disease prevention, allow for more personalised treatments and provide a sufficient scale for new clinically impactful research. Germany is the 21st EU Member State to join this initiative.

Our body systems age at different rates, study finds, pointing to personalized care to extend healthy life
Just as people have an individual genotype, so too do they have an “ageotype,” a combination of molecular and other changes that are specific to one physiological system. Discusses the 106 people Mike Snyder Stanford study published in Nature Medicine.
Read the recent interview with Mike Snyder on our blog.

Pharma

Pfizer’s big data exec on pharma’s ‘arms race’ to partner with companies like Fitbit, 23AndMe, and others
Pharmaceutical giants are hunting for ways to tap into the data from your smart watch, your sleep tracker, and your genetic tests.

Artificial Intelligence

Rise of Robot Radiologists
Quote by Curt Langlotz, Radiology Director at Stanford: “AI won’t replace radiologists, but radiologists who use AI will replace radiologists who don’t.”

Google develops AI to improve breast cancer screenings
In collaboration with the Cancer Research UK Imperial Centre, Northwestern University, and Royal Surrey County Hospital, Google has created an AI model for reading mammograms, which are X-rays of the breast, to help radiologists spot the signs of breast cancer more accurately.

Medicine by machine: Is A.I. the cure for the world’s ailing drug industry?
Discusses companies, such as Deep Genomics, Atomwise, Lantern and their AI approaches to sift through endless archives of biological data to find patterns that would take a human a lifetime to discover.

Precision medicine startup Notable starts trial to test AI platform in blood cancer patients
The ANSWer trial will enroll up to 1,000 patients and follow them for up to a year. A smaller feasibility study conducted with Stanford University and Tempus showed an 84% accuracy rate in predicting patient responses to drugs.

CRISPR

Companies join forces to address urgently needed quality control of CRISPR genome-editing
COBO Technologies and Cardea Bio partner to bring solutions to challenges with the precision of Genome editing. The partners have agreed to co-develop and market a portfolio of CRISPR QC products and services for quality control (QC) of CRISPR research, agricultural, and pre-clinical programs.

German researchers have managed to use the CRISPR gene-editing tool to correct the condition of Duchenne muscular dystrophy (DMD)  in pigs, bringing the treatment ever closer to human trials.

Liquid Biopsy

Grail’s liquid biopsy underwhelms at Asco-GI

Immunotherapy

MD Anderson acquires cancer immunotherapy manufacturing facility
MD Anderson Cancer Center will purchase Bellicum Pharmaceuticals Inc.’s manufacturing facility in Houston for $15M. MD Anderson will manufacture Bellicum’s cell therapies programs for clinical trials and early commercial supply at the 60,000-square-foot facility.

T-Cell discovery could herald universal cancer immunotherapy

Miscellaneous

Cancer statistics, 2020 – The American Cancer Society announced its latest figures on cancer incidence and mortality
Mortality rates are a better indicator of progress against cancer than incidence or survival rates because they are less affected by biases resulting from changes in detection practices.

The sneaky genius of Facebook’s new preventive health tool
The feature looks likely to fill gaps in care—and to further draw users into Facebook’s ecosystem.

Limited data may be skewing assumptions about severity of coronavirus outbreak
We don’t know what the ratio of severe cases vs. mild cases is which would tell us how bad the coronavirus outbreak truly is.

Three star scientists announce plan to solve biotech’s ‘missing women’ problem
A pledge signed by five venture firms, including Polaris Partners and F-Prime Capital, “to do all in our power to ensure the boards of directors for companies where we hold positions of power are 25% female by the end of 2022.

Publications

The single-cell pathology landscape of breast cancer

Discovery of new T-cell raises prospect of ‘universal’ cancer therapy
These newly discovered T-cells are equipped with a new type of T-cell receptor (TCR) which recognizes and kills most human cancer types, while ignoring healthy cells.

Dozens of non-oncology drugs can kill cancer cells
A study testing thousands of medicines in hundreds of cancer cell lines in the lab uncovers new tricks for many old drugs.

Sapling: Accelerating Suffix Array Queries with Learned Data Models

Mergers, Partnerships, and Acquisitions

Quest Diagnostics acquires Blueprint Genetics for undisclosed amount
Deal adds platform in gene variant interpretation based on next generation sequencing and proprietary bioinformatics to improve patient care and drug development.

Funding

DNA sequencing hardware startup Omniome raises $60M

Element Biosciences raises $80M in Series B financing to accelerate development of a new DNA sequencing platform

Oxford Nanopore lands £109.5M investment
The deal brings Oxford Nanopore’s total primary investment to around £480 million.

Roswell Biotechnologies secures $32 million Series A financing round

Single Technologies raises $1.6M to develop NGS platform
Single Technologies announced it has raised SEK15 million ($1.6M) to support further development of its next-generation sequencing platform.

Investors poured $4bn into healthcare AI startups in 2019
Up from nearly $2.7bn invested in healthcare AI in 2018 across 264 deals. The surge in funding was led by mega-rounds of financing reaching at least $100M. Babylon Health, a U.K.-based AI chatbot that also links up to provider practices, falls into this category and raised $550M last year.

Alto, a pharmacy start-up, just raised $250M
Alto delivers medications to people’s homes and offices.

Doudna-founded CRISPR upstart, Mammoth Biosciences, bags $45M for new Cas research, extends its reach into therapeutics