News for the month of December 2018
2018 came to an end with some superb news from Genomics England. The UK has sequenced 100,000 whole genomes and they offered gratitude for all involved in the project. LunaDNA came on the scene with a fresh approach to advancing genetic research. They will be paying individuals in stock to share their information with scientists and plan to give users regular payouts when the company starts making money.
At enlightenbio, we had a fun and busy 2018 analyzing the clinical NGS market for our market research report and working on custom product management and marketing projects. Happy New Year and a big thanks to our clients and partners!
NGS/Genomics
Pioneering 100,000 genomes project reaches its goal and thanks all involved
Genomics England sequenced 100K genomes in the NHS.
DNA Zoo website launched
The DNA Zoo is a consortium focused on facilitating conservation efforts through the rapid generation and release of high-quality genomics resources. These efforts can not only aid threatened nonhuman populations but will greatly facilitate the understanding of the Homo sapiens.
A tiny startup wants to pay you for your DNA and offers stock for the data in bid to build research database
LunaDNA is taking a new approach to genetic research by paying individuals to share their information with scientists. LunaDNA plans to share its equity and anticipated profits with people who hand over their health and genomic data, and hopes the feel-good boost from potentially contributing to medical advances and a bit of pocket change will incentivize potential contributors.
Qiagen launched CLC Genomics Workbench 12.0 and CLC Microbial Genomics Module 4.0
New low-input protocol enables high-quality genome created from single mosquito
Israel to sequence 100K people, create genomic database to support ‘digital health’
Precision Medicine
FDA recognizes genomic database to advance precision medicine
For the first time, the agency is recognizing a public genomic database as a source of valid information to accelerate precision medicine development.
The Governor’s Office of Planning and Research announced the release of “Precision Medicine: An Action Plan for California.”
This report presents actions the state and partners can take to ensure California continues to play a global leadership role in precision health and medicine – access the report.
Apple now has dozens of doctors on staff, showing it’s serious about health tech
Personalized medicine 2018: More drugs, greater NGS adoption, growing appreciation of Dx value
How personalized medicine is transforming your health care
Pharma/ Companion Dx
Roche signs companion Dx deal with Merck
The partnership is for the purpose of the development of a companion diagnostic test to identify patients eligible to receive Merck’s anti-PD-1 therapy Keytruda.
Immunotherapy
Gilead, Agenus launch $1.85B+ immuno-oncology collaboration
The partnership with Agenus will develop and commercialize up to five novel immuno-oncology (I-O) treatments.
Immune cells track hard-to-target brain tumours
Clinical trials reveal that personalized vaccines can boost immune-cell responses to brain tumours that don’t usually respond to immunotherapy. The findings also point to how to improve such treatments.
Genetics/ Genomic Testing
Announcing a new genotyping array, the Infinium™ Global Diversity Array, and a scientific contribution to 3 genome centers to support All of Us research
Illumina announced the launch of its new high-density genotyping array, the Infinium™ Global Diversity Array developed for and inspired by the All of Us Research Program.
Cancer genetic studies explore prognostic value of copy number alterations, other biomarkers
The Promise – and heartbreak – of cancer genomics
CRISPR
Jennifer Doudna, co-inventor of CRISPR, is named one of America’s Top 50 Women in Tech by Forbes
We have ways to stop rogue scientists. They don’t always work.
Artificial Intelligence
Pharma’s AI future
The industry has been doing bioinformatics, business intelligence, cheminformatics, text analytics, and QSAR for years.
Google to open artificial intelligence lab in Princeton and collaborate with University researchers
Two Princeton University computer science professors will lead a new Google AI lab opening in January in the town of Princeton.
2,000 human brains yield clues to how genes raise risk for mental illnesses
Artificial intelligence model improves prediction six-fold.
Shivom, Lifebit partner on DNA analysis platform for clinical trials
Shivom, the blockchain genomics platform that is powering personalized healthcare, has partnered with Lifebit, the AI-powered DNA-analysis firm, to give users unprecedented reporting capabilities for DNA data analysis.
Autism risk-factors identified in ‘dark matter’ of human genome
Blockchain
Blockchain becomes a ‘source of truth’ for biopharma
Although blockchain faces regulatory hurdles and skepticism, its potential as a shared, yet secure ledger system to improve the pharmaceutical supply chain integrity and clinical trials is making it attractive for experimentation and investment by drugmakers.
Miscellaneous
California life science industry soars to new heights
Sara Radcliff discusses (Mendelspod podcast) a new report that details the life science sectors with California showing strong growth coming from new digital health companies. That emerging digital health sector statewide is projected to attract $3.9 billion in VC investment in 2018 which represents nearly half of all projected life science VC investment for the year.
Scientists develop 10-minute universal cancer test
Inexpensive procedure shows whether patient has cancerous cells in the body, but does not reveal where or how serious it is with 90% sensitivity.
Walgreens teams up with Alphabet’s Verily to tackle chronic disease
The new alliance will make Walgreens the “first-choice” for retail commercialization of Verily products. The partnership is meant to allow for efficient scaling of innovative healthcare solutions across Walgreens widespread geographic footprint.
Can China’s R&D sector shake its reputational issues in 2019?
Most Popular Science Stories of 2018
Publications
China backs bold plan to tear down journal paywalls
Officials pledge support for European-led ‘Plan S’ to make research papers immediately free to read — but it’s unclear whether China will adopt all the plan’s policies.
PLOS authors say “Yes” to preprints
Chan Zuckerberg Initiative 2nd annual letter
Guiding interoperable electronic health records through patient-sharing networks
Researchers may have found the holy grail of early cancer detection
Better mouse model built to enable precision-medicine research for Alzheimer’s
Machine learning helps to hunt down the cause of a paralysing illness
Open-access journal editors resign after alleged pressure to publish mediocre papers
300 blind mice uncover genetic causes of eye disease
Direct capture of CRISPR guides enables scalable, multiplexed, and multi-omic Perturb-seq
Long-read sequence and assembly of segmental duplications
Multi-omics characterization of interaction-mediated control of human protein abundance levels
Baby gene edits could affect a range of traits
Gene targeted for its role in HIV is linked to increased severity of other infectious diseases — and has implications for learning in mice.
Mergers/ Partnerships & Acquisitions
10x Genomics acquires Spatial Transcriptomics
Ka-ching! Gilead Ends Year With Two Major Deals That Could Total More Than $3.125 Billion
WuXi Biologics and Oxford BioTherapeutics Expand Partnership With 5 More Antibody Compounds
Funding
Legendary biotech VC Steven Burrill sentenced to 2.5 years for fraud
Bay Area seeing rush of research, investment in human longevity
More than $4 billion has been invested in the top 30 longevity companies since 2007, with amounts that have sharply risen in the last four years, hitting about $1.3 billion in 2018.
Diagnostics unicorn Grail considering an IPO in the US, possibly next in 2019
PetaGene closes $2.1M financing round for its data compression technology
Mission Bio raises $30M in Series B financing for its single-cell genomics platform
News for the month of November 2018
November was a ground-breaking month! He Jiankui of the Southern University of Science and Technology (SUST), in Shenzhen made the controversial announcement that his team has used CRISPR to create twin girls whose genes were edited to make them resistant to HIV. He is now facing investigation over whether the experiment broke Chinese laws or regulations. CRISPR pioneer Feng Zhang addressed this news by saying “Not only do I see this as risky, but I am also deeply concerned about the lack of transparency surrounding this trial.” Another big announcement was that of Illumina’s plans to acquire Pacific Biosciences for approximately $1.2 billion to expand its long-read sequencing offerings. This year’s Black Friday brought unprecedented deals on DTC sequencing. Veritas Genetics temporarily lowered its whole genome sequencing and interpretation service to just $199 for 1,000 people.
Precision Medicine
Startup offers to sequence your genome free of charge, then let you profit from it
Nebula will do a full genome sequence, rather than a snapshot of key gene variants. That wider range of genetic information would make the data more appealing to biologists and biotech and pharmaceutical companies. See our interview with Nebula’s CEO Kamal Obbad.
Ellen Matloff on a new digital genetic counseling product for DTC customers
A Mendelspod podcast discussion about new digital genetic counseling, privacy with DTC companies, and polygenic risk scores (PRS).
Precision medicine is too complex for EHRs, KLAS says
Respondents to new research indicated that major EHR vendors are not capable of precision medicine work.
Data-driven medicine will help people — But can it do so equally?
Technological advances threaten to make a crushingly unequal system even more so.
GDPR in biobanking for precision medicine research: The challenges
Precision medicine will have a transformative effect on clinical trials
Hospitals lagging in using discrete genomics data for clinical decision support
NGS/Genomics
MGI, a subsidiary of BGI Group, introduced its newest model of genetic sequencer, MGISEQ-T7, which vastly improves speed, throughput and flexibility
The sequencing speed increased by over 50% and there MGISEQ-T7 run much faster than any other sequencer to date.
DNAnexus announced the launch of DNAnexus Apollo™
Apollo is a new platform for multi-omics and clinical data science exploration, analysis, and discovery for bioinformaticians and bench scientists.
The next chapter of a long read
An opinion piece by Andrew Carroll about Illumina’s announcement to purchase PacBio.
Now you can sequence your whole genome for just $200
Veritas Genetics offered whole genome sequencing – clinical-grade, 30X WGS and Interpretation – for just $200 for a limited time (two days) or to the first 1,000 people who buy spit kits.
Regulators just gave DNA-testing startup 23andMe the go-ahead to offer a health product that scientists have called dubious
The tests assess which genes are involved in breaking down various medications (including antidepressants and some heart medications) in the body. Versions are being offered by psychiatrists and Albertsons pharmacists in three major cities at a price tag of $750.
The FDA warns against the use of many genetic tests with unapproved claims to predict patient response to specific medications:
The FDA is alerting patients and health care providers that claims for many genetic tests to predict a patient’s response to specific medications have not been reviewed by the FDA, and may not have the scientific or clinical evidence to support this use for most medications.
Widely used reference for the human genome is missing 300 million bits of DNA
Additional reference genomes from different populations are needed for research.
Offering free DNA sequencing, Nebula Genomics opens for business. But there’s an itsy-bitsy catch
Nebula Genomics is giving customers the option of having their full genome sequenced at no cost, a first for direct-to-consumer genetics.
These DNA startups want to put all of you on the blockchain
I got my whole genome sequenced. Here’s what I learned
Microbiome
Microsoft Genomics ventures into the microbiome with Eagle Genomics
This is the first partnership for Microsoft that focuses on the microbiome genomics market.
Pathogen Identification
Bio-Rad wins USDA contract for its pathogen detection testing products
The company has been awarded a contract for iQ-Check real-time PCR pathogen detection test kits and the iQ-Check Prep Automation System from the United States Department of Agriculture’s Food Safety and Inspection Service (USDA FSIS).
Artificial Intelligence
How does Google want to apply artificial intelligence in healthcare?
DeepMind leaders announced that its healthcare team will be combined into Google to help them become the “AI-powered assistant for nurses and doctors everywhere.”
Billions will be poured into AI drug development
The amount of data collected and used for regulatory submission for 400 trials is about 160 Terabytes.
Precision med AI application can predict cellular DNA repair
The machine learning algorithm, which can anticipate how cells respond to CRISPR-induced breaks, could help researchers repair gene mutations.
The new Google Health unit is absorbing health business from DeepMind, Alphabet’s AI research group
DeepMind’s health subsidiary is moving under the newly-formed Google Health led by former Geisinger CEO David Feinberg.
The amazing ways artificial intelligence is transforming genomics and gene editing
Could artificial intelligence make doctors obsolete?
US considers export controls on AI and other new tech
CRISPR
The Chinese scientist who claims he made CRISPR babies is under investigation
He Jiankui claims he created twin girls who had been edited so they were resistant to HIV. Was that ethical? Or even legal?
CRISPR pioneer Feng Zhang responds to report of embryo editing in China
FZ: “Not only do I see this as risky, but I am also deeply concerned about the lack of transparency surrounding this trial. All medical advances, gene editing or otherwise and particularly those that impact vulnerable populations, should be cautiously and thoughtfully tested, discussed openly with patients, physicians, scientists, and other community members, and implemented in an equitable way.”
CRISPR Researchers Develop Method for Precise, Template-Free Genome Editing
CRISPR-cas9 without donor templates still accomplishes DNA repair
Investigators predict CRISPR-Cas9 gene disruptions with accuracy
Dr He Jiankui’s announces his team has delivered first gene-edited babies on youtube
What we know — and what we don’t — about the claim of world’s first gene-edited babies
Miscellaneous
Life span has little to do with genes, analysis of large ancestry database shows
Scientists reported that genes accounted for well under 7 percent of people’s life span, versus the 20 to 30 percent of most previous estimates.
Bio-Rad awarded $24M in 10x Genomics patent infringement lawsuit
The cult of DNA-centricity
Looks at the successes and short-comings of the DNA-centric narrative
After five years, Verily shelves project to create glucose-sensing contact lens
China’s crackdown on genetics breaches could deter data sharing
Publications
How Facebook and Twitter could be the next disruptive force in clinical trials
Organizational principles of 3D genome architecture
Science – special issue: diet and health
The gut microbiota at the intersection of diet and human health
How biologists are creating life-like cells from scratch
Tumor fraction in cell-free DNA as a biomarker in prostate cancer
Mergers/ Partnerships & Acquisitions
Veritas Capital, Elliott clinch $5.7 billion acquisition of Athena health
Genomics Medicine Ireland (GMI) is being acquired (for an undisclosed amount) by WuXi NextCODE and will try to recruit ~10% of the Irish population for whole genome sequencing.
Ireland to sequence 400K genomes with new precision medicine effort.
Funding
Investors are pouring cash into AI startups focused on health care
There are cures waiting to be discovered in the ever-growing mountains of medical data.
Comparing this year’s big biotech IPOs to previous years
According to the Wall Street Journal, as of mid-October, 55 biotech companies had raised $5.75 billion.
Mount Sinai Invests $200M Into New Precision Medicine Data Science Program
Billionaires Are Making an Impact on Life Sciences With Significant Donations
Life sciences VC investment trends similar to tech, but there are differences
News for the month of October 2018
In October, the NHS’ Health and Social Care Secretary, Matt Hancock, shared its ambitious goal to sequence 5 million genomes in the UK, within five years. Additionally, the NHS will offer whole genome analysis for all seriously ill children with a suspected genetic disorder starting in 2019. The NHS will also offer genome sequencing for all adults suffering from certain rare diseases or hard to treat cancers. Another October highlight was the announcement that Dr. James Allison, together with Dr. Tasuku Honjo, won the Nobel Prize in Medicine for his work in immunotherapy, which has paved the way for a new class of cancer drugs. Wired recently profiled him and his work.
Precision Medicine
Secretary of State for Health and Social Care announces ambition to sequence 5 million genomes within five years
The announcement, made as part of the Secretary of State’s speech to the Conservative Party Conference in Birmingham, recognizes the critical importance of genomic medicine to the future of the NHS.
Vast leukemia dataset could help researchers match therapies to patients
Researchers release new dataset describing hundreds of samples from AML patients. Researchers can learn what drugs may work best for specific subsets of patients.
Amazon and NIH to link biomedical data and researchers
The National Institutes of Health (NIH) today announced the addition of Amazon Web Services (AWS) to its Science and Technology Research Infrastructure for Discovery, Experimentation, and Sustainability (STRIDES) Initiative.
Researchers want cancer patients to share their medical information in search of cures
A new non-profit project from several leading health organizations, called Count Me In, lets cancer patients send their medical information directly to researchers who are searching for cures.
Where wearables fit into the future of precision medicine
Apps and devices will evolve and tools already around us will become instruments of health to advance tailor-made care delivery and treatments.
Epic Systems building dedicated server for sequencing data
Electronic health records giant Epic Systems is adapting to the age of precision medicine by building a dedicated, cloud-based sequence server to store large genomics files.
NGS/Genomics
DNA databases are too white. This man aims to fix that
Carlos D. Bustamante’s hunt for genetic variations between populations should help us better understand and treat disease.
New technique promises more accurate genomes
University of Adelaide researchers have developed a new technique that will aid in a more accurate reconstruction of human genomes by determining the exact sections of the genome that come from each parent.
NHS Genomic Medicine Service launch with the ambition to map 5 million genomes
One million genomes will be sequenced by the NHS and the UK Biobank. Adults with certain rare diseases or hard to treat cancers will be offered whole genome sequencing – an offer to be extended from 2019 to all seriously ill children, including those with suspected genetic disorders and cancer. The aspiration for the NHS Genomic Medicine Service is to sequence five million genomes in the UK within a five year period.
PacBio data release
Highest-quality, most contiguous individual human genome assembly to date released.
Roche launches NGS AVENIO Tumor Tissue Analysis Kits for oncology research
Roche announced the global commercial launch of three new next-generation sequencing (NGS) AVENIO Tumor Tissue Analysis Kits – the AVENIO Tumor Tissue Targeted Kit, Expanded Kit and Surveillance Kit.
Blueprint Genetics expands capabilities in the detection and confirmation of difficult-to-sequence regions
Blueprint Genetics’ production environment involves customized sequencing solutions for difficult-to-sequence genes, designed to maximize detection of clinically relevant variants.
New technique promises more accurate genomes by sequencing families
Researchers at the National Institutes of Health (NIH) and the United States Department of Agriculture (USDA) have developed a new technique that will aid in a more accurate reconstruction of human genomes by determining the sections of the genome that come from each parent.
10x Genomics showcases new solutions at ASHG 2018
Introduces significant advances to its flagship Single Cell Gene Expression Solution.
Matt Hancock announces ambition to map 5 million genomes
The NHS Genomic Medicine Service is the first national genomic healthcare service in the world and will allow faster diagnosis and personalised care.
Building a 3D map of the genome
Immunotherapy
Meet the carousing, harmonica-playing Texan who just won a Nobel Prize for his cancer breakthrough
Meet James Allison – Nobel prize winner in medicine 2018.
The snub club: Crucial contributors to cancer immunotherapy were excluded from the medicine Nobel
Three is the maximum number of laureates that, – as decreed in 1968 by the Nobel foundation – to win any Nobel prize. Because of that limit, it’s rare that Nobel announcements don’t produce grumblings about who was left out, and this year was no exception. At least three other scientists were major contributors to the basic research that led to cancer immunotherapy.
Gilead and Tango to develop novel immuno-oncology drugs
Gilead Sciences will pay $50 million to Tango Therapeutics as part of a deal to identify novel immuno-oncology drug targets. The companies will jointly work on finding five new targets that help tumor cells stave off an immune attack.
Why does Immunotherapy cost so much?
Pharma/ Companion Dx
Chinese pharma companies continue to shake hands with western partners
The Chinese biopharma market is booming as more and more companies eye breaking into that rich market.
Companies Team up to Accelerate Market Readiness of Drug Development Programs
Genomic/Genetic Testing
Who owns the results of genetic testing?
An interview with Jen King, director of consumer privacy at the Center for Internet and Society at Stanford Law.
‘Everyone will be potentially identifiable’: Booming DNA testing means no identity is hidden on the web
Consumer DNA testing — and the mountain of data it has generated — has become pervasive enough that it’s possible to identify about six of every 10 people in the U.S. who are of European descent, even if they’ve never given a sample. Study finds 60% chance of family links to growing pool of data.
Genetic counseling medicare bill introduced
Certified genetic counselors are not currently recognized by CMS even though genetic counseling is a covered benefit under Medicare. As a result, CGCs cannot be reimbursed for counseling Medicare beneficiaries, which impedes access to these uniquely trained healthcare professionals who attended specialized master’s degree programs in genetic counseling.
Congenica earns major role in supporting world’s first routine national genomic medicine service
Genomics England names Congenica as partner for Clinical Decision Support delivery of the NHS Genomic Medicine Service.
The Results of Your Genetic Test Are Reassuring. But That Can Change
Laboratories frequently “reclassify” genetic mutations. But there is no reliable system for telling patients or doctors that the results of their genetic tests are no longer valid.
Test could predict risk of future heart disease for just £40
Study resolves decades-long mystery about the most commonly mutated gene in cancer
So much genetic testing. So few people to explain it to you.
That deluge of data means that genetic counselors—the specialized medical professionals trained to help patients interpret genetic test results—are in higher demand than ever.
Microbiome
Glyphosate perturbs the gut microbiota of honey bees
Study suggests that bees exposed to glyphosate, the active ingredient in Roundup, have led to an unexplained increase in honey bee colony mortality.
Infant Microbiome Develops in Three Stages
Artificial Intelligence
NVIDIA partners with Scripps to develop digital health AI
They are teaming up to develop genomics processing and analysis tools guided by artificial intelligence (AI). Nvidia data scientists will colocate with Scripps genomics experts and bioinformaticiians to study health care problems “end to end.”
UK AI project aims to boost drug discovery
A £1 million UK project is hoping to use artificial intelligence (AI) to help scientists advance drug discovery.
Your next doctor’s appointment might be with an AI
A new wave of chatbots are replacing physicians and providing frontline medical advice – but are they as good as the real thing?
How big data is changing science
“If you look at any 15-year-old research lab, they’re 90 per cent wet lab,” he says. “And if you go into one, almost all the people are sitting at computers.” Gil McVean, University of Oxford
How do you make doctors trust machines in an AI-driven clinical world
NHS adopts AI app for gestational diabetes
CRISPR
New CRISPR tool opens up more of the genome for editing
Researchers have discovered a Cas9 enzyme that can target almost half of the locations on the genome, significantly widening its potential use.
Read our latest science spotlight about the CRISPR base editors.
As it moves out of the lab, CRISPR brings tough questions into the clinic
Miscellaneous
Researchers explore a cancer paradox
Healthy cells carry a surprising number of cancer-linked mutations, but they don’t turn into tumors. What’s holding them back?
Repositive launches limited-time free Personal Shopper Service, to connect researchers with difficult-to-source translational cancer models
They are continuing to offer it to biopharma researchers free of charge until 31 December 2018.
The human cell atlas is biologists’ latest grand project
Dubbed the Human Cell Atlas, the project intends to catalog all of the estimated 37 trillion cells that make up a human body.
Sir Greg Winter wins the 2018 Nobel Prize in Chemistry
Sir Greg Winter, of the University of Cambridge, has been jointly awarded the 2018 Nobel Prize in Chemistry, along with Frances Arnold and George Smith, for his pioneering work in using phage display for the directed evolution of antibodies, with the aim of producing new pharmaceuticals.
FDA approves first new flu drug in nearly 20 years
Genentech’s Xofluza (baloxavir marboxil), a single-dose, oral prescription drug.
LunaDNA seeks approval to issue shares to people who contribute genetic data
LunaDNA, which aims to create a community-owned database of donated genetic/health information for medical research, has filed with securities regulators to issue shares to people who provide their data.
A full human genome nets 300 shares.Three weeks of fitness/nutrition data gets two shares.
A new piece of the Alzheimer’s puzzle
AD susceptibility may hinge not only upon which gene variants are present in a person’s DNA, but also how RNA messages encoded by the affected genes are altered to produce proteins.
BioIT World news and notes from ASHG 2018
Microsoft unveils genomics innovation and new partners
Why white supremacists are chugging milk (and why geneticists are alarmed)
Publications
Dads pass on more than genetics in their sperm
The legacy of a dad’s behavior can even live on in his child if his epigenetic elements enter an embryo.
Harvard, Brigham and Women’s Hospital seek retraction of 31 articles with falsified data
The UK Biobank resource with deep phenotyping and genomic data
Phenome-wide association studies across large population cohorts support drug target validation
Somatic mutant clones colonize the human esophagus with age
The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomics
Genetic database software as medical devices
Stanford study traces hospital-acquired bloodstream infections to patients own body
Genetic study improves lifespan predictions and scientific understanding of aging
The human gut microbiome in early-onset type 1 diabetes from the TEDDY study
Return of results and data to study participants
Funding
Guardant Health CEO on its soaring IPO debut
Amgen invests £50m in UK genetics firm Oxford Nanopore
Synthego reels in $110M to ramp up CRISPR kit capacity
DNA editing on-the-cheap is the promise of Synthego, which just raised $110 million from Peter Thiel and other investors.
Twist Bioscience Joins IPO Craze, Hopes to Secure $86 Million
AI and biotech companies in the east and west invest in combating aging
The longevity and biotechnology industries are focusing on aging in a big way, and it’s beginning to show. Includes a discussion around companies like Insilico, WuXi AppTec, AgeX Therapeutics, and Juvenescence.
News for the month of September 2018
September was a busy month in the precision medicine space. The Broad Institute, Partners LMM, and Color received a joint award to become a Genome Center for the All of Us Research Program. This will allow the All of Us project to generate and share data from a million people to improve human health. Michael Snyder and his Stanford colleagues used an approach that draws on genetic data and patient health records to predict a person’s risk for an often fatal type of cardiovascular disease. Also, a Broad Institute and Harvard study uncovered a new genetic risk factor for developing type 2diabetes.
Precision Medicine
Broad Institute, Partners LMM, and Color receive joint award to become a Genome Center for the All of Us Research Program
NIH funds three genome centers nationwide to generate and share data from a million people to improve human health.
Baylor’s HGSC named an HIGH All of Us research center
BCM-HGSC as one of three centers responsible for generating clinical grade genomic data for the program.
Researchers can forecast risk of deadly vascular condition, called abdominal aortic aneurysm, or AAA, from genome sequence
By combining genome-sequence information and health records, Stanford scientists have developed a new algorithm that can predict the risk of abdominal aortic aneurysm, and potentially could be used for any number of diseases.
Michael Snyder and his colleagues used an approach that draws on genetic data and patient health records to predict a person’s risk for an often fatal type of cardiovascular disease.
Precision medicine’s promise and progress
A discussion with Aura Biosciences CEO Elisabeth de los Pinos Pont, Illumina Executive Chairman Jay Flatley, and BGI President Wang Jian.
Genomic study brings us closer to precision medicine for type 2 diabetes
Analysis reveals disease’s complexity, suggests potential clinical subtypes defined by genetics and physiology.
Konica Minolta launches dedicated precision medicine business in Japan
For marketing high-end precision medicine tools and diagnostic services in Japan, starting operations on October 1.
Vertex, Genomics Team Up in Quest for Genetics-based, Precision Medicines
NGS/Genomics
NHS announces new Genomic Medicine Service
The UK Agency said the goal is to provide access to genetic testing to drive personalized treatments and enable interventions for the whole country.
Why your DNA is still uncharted territory
Scientists are focusing on a relatively small number of human genes and neglecting thousands of others. The reasons have more to do with professional survival than genetics.
Only a tenth of the human genome is studied
Paying more attention to the rest seems like a good idea
Nanopore Sequencing Becomes More Portable to Enable Outbreak Surveillance in Field
Quantapore Working Towards Commercialization of Optical Nanopore Sequencing Tech
How Digital Data Management Is Transforming Next-Generation Sequencing
Immunotherapy
FDA alters approved use of two checkpoint inhibitors for bladder cancer
The FDA announced that it was changing the prescribing label for pembrolizumab (Keytruda) and atezolizumab (Tecentriq). They should be used as an initial, or first-line, treatment in only those people with metastatic bladder cancer who can’t receive cisplatin-based chemotherapy and whose tumors have high levels of PD-L1. The assessment of PD-L1 levels must be made using an FDA-cleared test.
Immunotherapy offers a promising bet against brain cancer
Could the latest immunotherapies succeed in tackling the deadliest form of brain cancer?
Encouraging progress in immunotherapy for breast cancer
New trial may lead to first FDA approval in this realm.
Engineered cell therapy given initial ‘no’ for aggressive adult lymphoma on NHS in England
First ever HIV immunotherapy drug proves safe in phase 1 trial – paving the way to a cure
Revealing a new way that cancer can evade immunotherapy — and, maybe, how to stop it
Pharma/ Drug Discovery/ Companion Dx
Hospitals are fed up with drug companies, so they’re starting their own
A group of major American hospitals, battered by price spikes on old drugs and long-lasting shortages of critical medicines, has launched a mission-driven, not-for-profit generic drug company, Civica Rx, to take some control over the drug supply.
Repositive is offering its Cancer Models Personal Shopper Service FREE to commercial scientists working in translational oncology throughout Q4 2018
Repositive temporarily provides its new offering that streamlines collaborations between researchers & CROs for free.
FDA proposes stiff fines for pharmaceutical companies and CROs that fail to post clinical trial results online
The proposed guidance comes on the heels of a recent BMJ paper that said 49% of clinical trials on the European Register haven’t reported results. A 2015 study in the U.S. found that about 20% of industry trials didn’t report results when they were required to, and about 50% of NIH-sponsored research went unreported.
New pioneering type 2 diabetes research centre opens
The aim of the Novo Nordisk Research Centre Oxford (NNRCO) is to pursue innovative medicines to help treat and prevent type 2 diabetes while also helping to train the next generation of researchers.
Genomic/Genetic Testing
23andMe underscores that privacy-loving customers need to opt out of its data deal with GlaxoSmithKline
Anne Wojcicki answered a series of questions about 23andMe’s pact with pharma giant GSK at Disrupt SF.
Bill Gates how blood will soon tell us everything
Your DNA Is Not Your Culture
A Spotify playlist tailored to your DNA is the latest example of brands cashing in on people’s search for identity.
Microbiome
Researchers explore how changes in diet alter the microbiome in artificialintestine
Blockchain
Blockchain genomics startup wants to make you money with your DNA
London-based blockchain startup Genomes.io is on a mission to protect and productize DNA.
Also, read the interview with CEO Kamal Obbad of Nebula Genomics, a human genome sequencing and health big data company on a mission to usher in the era of genomic sequencing by building a large and trusted genomic and health data marketplace for consumers, researchers and the medical community.
Artificial Intelligence
A plan to advance AI by exploring the minds of children
Cognitive science and neuroscience could inspire the next big innovations in artificial intelligence, says the head of an ambitious new MIT-led research project.
Expert insight: How AI and advanced analytics could change the healthcare game
Debate is rife over the impact that artificial intelligence (AI) and machine learning will have on many spheres of life – and nowhere more so than in healthcare.
What happens when an algorithm labels you as mentally ill?
A series of emojis, words, actions or even inactions can communicate how you feel at a given moment and when collected over time, comprise your “socionome” — a digital catalog of your mental health that is similar to how your genome can provide a picture of your physical health.
An AI pioneer, and the researcher bringing humanity to AI
Google AI tool identifies a tumor’s mutations from an image
Artificial intelligence to improve drug combination design & personalized medicine
Health AI market predicted to ramp up significantly within next four years
7 amazing ways artificial intelligence is used in healthcare
CRISPR
Pivotal CRISPR patent battle won by Broad Institute
Team from the University of California, Berkeley, loses appeal over coveted gene-editing technology.
These Companies Want to Combine Stem Cells and CRISPR Gene Editing to Treat Diabetes
Health Brain Cancer’s ‘Immortality Switch’ Turned Off with CRISPR
Miscellaneous
Theranos, blood-testing company plagued by scandal, says it will dissolve
Because the Company’s cash is not nearly sufficient to pay all of its creditors in full, there will be no distributions to shareholders. After the assignment process, the company intends to dissolve. Most of the company’s remaining employees last day was Aug. 31.
Why so many data scientists are leaving their jobs
Expectation does not match reality. “Big data is like teenage sex: everyone talks about it, nobody really knows how to do it, everyone thinks everyone else is doing it, so everyone claims they are doing it.”
Radical open-access plan could spell end to journal subscriptions
Eleven research funders in Europe announce ‘Plan S’ to make all scientific works free to read as soon as they are published.
New research may answer why many recent Alzheimer’s clinical trials have failed
A new study could help explain this string of drug failures, discovering that when a synapse in the brain is destroyed by beta-amyloid it triggers nearby nerve cells to produce more beta-amyloid. This sets off a feedback loop that drives further neurodegeneration.
No more first authors, no more last authors
If we really want transdisciplinary research, we must ditch the ordered listing of authors that stalls collaborative science, says Gretchen L. Kiser.
Thousands of scientists publish a paper every five days
The surprises of starting as a new PI
Publications
New clues found to understanding relapse in breast cancer – Tumor mutations found in patients point to progressive disease
A large genomic analysis has linked certain DNA mutations to a high risk of relapse in estrogen receptor positive breast cancer, while other mutations were associated with better outcomes, according to researchers from Washington University School of Medicine in St. Louis, the Baylor College of Medicine and the University of British Columbia.
Genomic study brings us closer to precision medicine for type 2 diabetes
PLOS Medicine published analysis reveals disease’s complexity, suggests potential clinical subtypes defined by genetics and physiology.
Prevalence of Variant Reclassification Following Hereditary Cancer Genetic Testing
This study provides an estimate of the likelihood of variant reclassification following hereditary cancer genetic testing, but replication is required using other data sources.
Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative
Fatal Toxic Effects Associated With Immune Checkpoint Inhibitors
Population dynamics of normal human blood inferred from somatic mutations
Experimental and computational framework for a dynamic protein atlas of human cell division
Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
Development and Validation of Deep Learning–based Automatic Detection Algorithm for Malignant Pulmonary Nodules on Chest Radiographs
AI algorithm outperformed board-certified radiologists for accurately detecting chest X-ray cancerous lung nodules
Mergers and Acquisitions
Agilent acquires cell analysis tools developer ACEA Biosciences for $250 million in cash. The deal expands Agilent’s offerings and presence in cell analysis technologies.
Brooks Automation announces the acquisition of GENEWIZ Group
Funding
uBiome is jumping into therapeutics with a healthy $83 million in Series C financing
To support its new drug discovery efforts, the San Francisco-based startup will be moving its therapeutics unit into new Cambridge, Massachusetts headquarters and appointing former Novartis CEO Joseph Jimenez to the board of directors as well.
NIH funds $54M project to build detailed map of cells within human body
With CIRPSR’s Help, KSQ Touts 13 Cancer Drugs and Bags Another $80M in Series C
VCs say the Silicon Valley isn’t the gold mine it used to be
Digital Healthcare Firm Maven Raises $27 Million In Series B Funding
PharmEasy Raises $50 Mn Series C Funding
News for the month of August 2018
August brought news in the genetic testing sector: Broad Institute and Harvard University researchers unveiled a sophisticated new algorithm that forecasts an individual’s risks for five deadly diseases, Chinese scientists corrected a mutation that causes Marfan syndrome by applying the CRISPR technology, and investments are never ending as demonstrated with Tempus receiving $110M in series E. All these while discussions continued about the value of genetics/genomics data following the July announcement of GSK investing $300M in 23andMe to get access to their genetic database as well as the rise of companies that want to make the value of genomic sequencing a reality which includes Nebula Genomics.
Precision Medicine
Three huge ways tech is overhauling healthcare
This post discusses how converging exponential technologies are enabling personalized medicine, delocalized (“everywhere”) care, and the new era of intelligent prevention.
Ovarian cancer genetics unravelled
This study, which involved ovarian cancer samples from over 500, looks for broad patterns in the genetic readouts from ovarian cancer cells.
Taking a wider view of precision oncology
The debate on precision oncology was on full display at this year’s American Society of Clinical Oncology meetings, pitting a proponent and a skeptic: Drs. Jeremy Warner and Vinay Prasad, respectively.
New 3D printing project aims to bring relief to arthritis sufferers
Irish researchers looking to create personalized 3D-printed biological implants
Personalized Medicine: A Culmination Of Everything The Digital Economy Has To Offer
Precision Medicine Researchers Identify New Alzheimer’s Genes
Boston University researchers have discovered new genes that may be responsible for Alzheimer’s development, leading to a potential precision medicine breakthrough.
Lifestyle change as precision medicine
NGS/Genomics
Who will be the Google of genomics?
The first company that will offer genome sequencing for free will be able to create the most valuable advertising engine in the world. This article discusses second-generation (2G) DNA testing companies – Luna DNA, Nebula Genomics, and EncryptGen – that are starting to radically change all this.
Together, big data, bench science and genome-wide diagnostics predict genomic instability that can lead to disease
Discusses the details of the AluAluCNVpredictor, a web-based tool that allows researchers to predict the risk of Alu/Alu-mediated rearrangements for the genes of their interest.
Applications of Next Generation Sequencing Outside of Healthcare
The NGS industry is still young. As more companies develop their own systems, we’re now seeing new applications emerge for the technology. A wide variety of businesses are thinking outside the box of human or animal genome analysis.
OmniTier’s CompStor Brings De Novo Analytics To Genomics
CRISPR
Europe deals a blow to CRISPR technology – should be regulated as genetic engineering – while the U.S. Approves ‘Bleeding’ Impossible Burger
Both the U.S. and the European Food and Drug Administration approved the Impossible Burger while Europe’s highest court ruled gene-edited crops should be subject to the same strict regulations the continent uses for genetically modified (GM) organisms. A major setback for advocates of genetically engineered crops.
With embryo base editing, China gets another CRISPR first
In the study published in Molecular Therapy, Chinese scientists corrected a mutation that causes Marfan syndrome, an incurable connective tissue disorder that affects about 1 in 5,000 people.
Using CRISPR for the ‘smaller wins,’ like making chemotherapy less toxic
Pharma/Drug Discovery/Companion Dx
Novogene receives CFDA approval for NovoFocus NSCLC CDx test
The NGS-based diagnostic test simultaneously analyzes tumor samples for multiple genomic mutations associated with several CFDA-approved targeted therapies for non-small cell lung cancer (NSCLC), which accounts for ~80% of all lung cancers in China.
23andMe’s pharma deals have been the plan all along
23andMe, with its hybrid model, has been commodifying health and genetic data for years as it wades further into the field of drug discovery.
Genomic/Genetic Testing
DNA ancestry tests may look cheap. But your data is the price.
Discusses how companies like 23andMe profit by amassing huge biological datasets.
PapGene, Inc. receives FDA breakthrough device designation for liquid biopsy test that detects multiple cancers from a simple blood draw
The FDA granted Breakthrough Designation based on the test’s ability to detect both ovarian and pancreatic cancer, advancing the FDA’s goal to help give patients timely access to medical devices that provide more effective treatment or diagnosis for life-threatening or irreversibly debilitating diseases or conditions by expediting their development, assessment, and review.
How scientists are learning to predict your future with your genes
When the Human Genome Project — the massive endeavor to map all the genes that make humans human — was completed in 2003, scientists were elated. It did not quite yet work out that way.
Clues to your health are hidden at 6.6 million spots in your DNA
With a sophisticated new algorithm, scientists have found a way to forecast an individual’s risks for five deadly diseases. A New York Times article by Gina Kolata.
FDA details vision for regulating in vitro clinical tests to legislators
4 Risks consumers need to know about DNA testing kit results and buying life insurance
Natera and Fox Chase Cancer Center partner to assess customized circulating tumor DNA assay
Genetic Technologies Announces Proposed Joint Venture with Beijing Zishan Health Consultancy Limited
A Harvard Scientist Thinks He Has a Gene Test for Heart Attack Risk. He Wants to Give It Away Free
Blockchain
Will blockchain transform healthcare?
In recent months, there has been a flurry of excitement about the role that blockchain technology might play in the long-term transformation of U.S. healthcare.
Artificial Intelligence/Machine Learning
New AI system sniffs out missed tumors in cancer patients
Computer science engineers created a new artificial intelligence system with 95 percent accuracy in spotting tiny often missed cancerous tumors.
Machine learning improves searches in world’s largest biomedical literature database
The promise and perils of AI medical care
Artificial Intelligence Will Serve Humans, Not Enslave Them
AI could make MRI scans as much as 10 times faster
Black Box, White Coat: Rise Of The Machines In Medicine
Microbiome
Microbiome medicine takes center stage
Personalized medicine isn’t all about our DNA. Researchers are increasingly looking past the information encoded on our genes to find answers to how individual variation contributes to complex disease; epigenomics, transcriptomics and proteomics are proving their worth in the lab and clinic.
Tongue microbiome research underscores importance of dental health
Miscellaneous
NIH begins clinical trial of live, attenuated Zika vaccine
The trial will enroll a total of 28 healthy, non-pregnant adults ages 18 to 50 at the Johns Hopkins Bloomberg School of Public Health Center for Immunization Research in Baltimore, Maryland, and at the Vaccine Testing Center at the Larner College of Medicine at the University of Vermont in Burlington. NIAID is sponsoring the trial.
Innovation and collaboration: key catalysts for scientific break-throughs
An article by Fiona Nielsen CEO Repositive: “Why restricted data access & an industry-wide aversion to collaboration is delaying and/or preventing the discovery of treatments and cures for cancer.”
From Durham, the future of clinical research looks a lot like implementation science
David Shaywitz discusses clinical research implementation at the Duke Clinical Research Institute (DCRI) in Durham, North Carolina. “It’s productive, successful, and has been training great clinical scientists.”
Gene-silencing technology gets first drug approval after 20-year wait
The US Food and Drug Administration’s decision breathes new life into RNA-interference therapies.
37 startups building voice applications for healthcare
It is predicted that 50% of searches will be voice-based by 2020 and that 55% of US households will have a smart speaker by 2022. As a result entrepreneurs, developers, product managers, and marketers are rushing to figure out how they can capture the upcoming surge of voice-based technology.
Direct-to-consumer genetic testing is booming, but ethical concerns remain
Publications
Boosting cancer immunotherapy by switching off a protein
Estimation of the percentage of US patients with cancer who benefit from genome-driven oncology
Consumer genomics will change your life, whether you get tested or not
CRISPR-Cas guides the future of genetic engineering
Machine learning improves searches in world’s largest biomedical literature database
This Kind of RNA Could Contribute to Fatty Liver
Co-regulatory networks of human serum proteins link genetics to disease
Daring to hope
How manipulating the genome offers some hope in rare diseases
How AI can be a force for good
Automated deep-neural-network surveillance of cranial images for acute neurologic events
The future of humans as model organisms
Diverse genome study upends understanding of how language evolved
A brief history of bioinformatics
Mergers and Acquisitions
SoftBank-backed 10x Genomics makes a clever buy to help unlock the human biological code
10x Genomics is making its first acquistion with startup Epigenomics.
Funding
Tempus just got $110M in series E and a $2B valuation
Tempus received $320 million throughout its life.
Boston-area startups are on pace to overtake NYC venture totals
Boston has regained its longstanding place as the second-largest U.S. startup funding hub.
HealthMyne raises $15 in series B to expand commercialization efforts of QIDS platform
Bionano Genomics raises $20.6M in IPO, starts trading on Nasdaq
Nebula Genomics raises $4.3M seed financing from leading tech and biotech VCs.
Gates Foundation’s $100M-a-year nonprofit biotech takes flight
A new foreign investment bill will impact venture capital and the US startup ecosystem
News for the month of July 2018
In July, the National Health Service (NHS) in the United Kingdom announced that beginning on October 1st new cancer patients will have their tumors screened for key mutations. This makes NHS the first health service in the world to routinely offer genomic medicine which is predicted to transform NHS patient care in the years to come. With the rapid advancement of precision medicine, questions are arising on how to best educate the public which generally lacks sufficient understanding of personalized medicine as demonstrated in a new survey. Additionally, doctors are stressing the need to prioritize actionability of unsolicited genomic results.(UGRs) and the need for clear, evidence-based paths coupled with clinical decision support to deal with receiving UGRs.
Precision Medicine
In July, the National Health Service (NHS) in the United Kingdom announced that beginning on October 1st new cancer patients will have their tumors screened for key mutations. This makes NHS the first health service in the world to routinely offer genomic medicine which is predicted to transform NHS patient care in the years to come. With the rapid advancement of precision medicine, questions are arising on how to best educate the public which generally lacks sufficient understanding of personalized medicine as demonstrated in a new survey. Additionally, doctors are stressing the need to prioritize actionability of unsolicited genomic results.(UGRs) and the need for clear, evidence-based paths coupled with clinical decision support to deal with receiving UGRs.
DNA tests predicted to transform next 70 years of NHS
Patients in Scotland are set to benefit from a revolution in personalised healthcare, thanks to major investments in gene sequencing technology.
Should biobanking come under CLIA?
A Mendelspod podcast with Shannon McCall, Pathologist, Director of the Precision Cancer Medicine Initiative at the Biorepository and Precision Pathology Center, Duke University.
Riseof the knowledge network
A keynote presentation by India Hook-Barnard, Director of Research Strategy at the University of California San Francisco, gives a high-level look at how knowledge networks work and how healthcare can leverage them for better analytics and for advancing precision medicine.
New survey shows general public lacks understanding of personalized medicine
New survey of 1,001 Americans from the Personalized Medicine Coalition (PMC) and GenomeWeb shows that the majority of respondents are not familiar with the concept of personalized medicine. This lack of familiarity persists despite the fact that precision medicine accounted for more than 20% of new drugs approved by the FDA in 2017, the fourth straight year for this trend.
Routine DNA tests will put NHS at the ‘forefront of medicine’
People in England will have access to DNA tests on an unprecedented scale from the autumn when the NHS becomes the first health service in the world to routinely offer genomic medicine.
Ex-Apple Health director is now working to fix medical records
Anil Sethi is the founder of Ciitizen, an early-stage start-up that’s focused on helping people with cancer access their data.
How genomics is dramatically changing the future of medicine
Sequencing or Array Testing for Genetic Diseases?
A recent post by Dan Kobolt on KidsGenomics which was established in February 2018.
Precision Medicine Success Hinges On Diagnostics’ Clinical Utility
Precision medicine: We know there’s a market, but who are the top vendors?
NGS/Genomics
OrigiMed collaborates with Illumina to further develop and promote its advanced clinical molecular tumor spplications
OrigiMed will develop and promote its advanced molecular clinical tumor applications to the public based on Illumina’s Next Generation Sequencing (NGS) technology.
Dante Labs launches Whole GenomeZ, a new whole genome sequencing technology for advanced diagnostics
Whole GenomeZ leverages next-generation sequencing techniques to provide 130X coverage to the entire exome and 30X coverage to the rest of the genome.
Dante Labs offers $349 whole genome sequencing on Amazon Prime Day
Dante Labs offers whole genome sequencing (WGS) and interpretation at only USD 349 (€299). This offer marks a further price reduction compared to Prime Day 2017, and marks another “first” in the worldwide reduction of the cost of whole genome sequencing.
Liquid Biopsy Controversy Rages On
Massive study on the genetics of educational attainment
Illumina Releases Open Source AI Software
CRISPR
CRISPR makes cancer cells turncoats that attack their tumor
In a study four years in the making, scientists reported on Wednesday that “rehoming” cells that had been CRISPR’d to attack cells in the original tumor improved survival in lab mice with brain cancer, as well as in mice with breast cancer that spread to the brain.
With this startup’s help, gene-editing tech will soon be everywhere
Synthego is shipping modified cells directly to scientists so they can focus on developing cures.
CRISPR DNA editing may cause serious genetic damage, researchers warn
A new study finds that the CRISPR technology can cause damage hundreds of times what was previously observed.
Gene editing is GM, says European Court
The European Court of Justice has ruled that altering living things using the relatively new technique of genome editing counts as genetic engineering.
Reinventing Gene Editing in T-cells to Fight Cancer
Using CRISPR, PICI scientists create faster, more precise way of engineering cancer-fighting T cells – without the use of expensive viruses
CRISPR gene editing produces unwanted DNA deletions
CRISPR–Cas9 genome editing in human cells occurs via the Fanconi anemia pathway
Pharma/ Drug Discovery/ Companion Dx
23andMe Is sharing its 5 million clients’ genetic data with drug giant GlaxoSmithKline
During the 4-year collaboration GSK will use 23andMe’s database to gather insights and to discover novel drug targets driving disease progression and develop therapies. GSK is investing $300 million in 23andMe.
Statement by FDA Commissioner Scott Gottlieb, M.D., on formation of a new drug shortages task force and FDA’s efforts to advance long-term solutions to prevent shortages
The FDA has been providing updates and information about the FDA’s efforts to prevent or mitigate drug shortages.
Novartis Becomes the Latest Pharma Company to Give Up on Antibiotics Research
Much like climate change, the growing emergence of antibiotic-resistant bacterial superbugs is a ticking time bomb that threatens our very way of life. It’s also a very expensive problem to tackle, and Big Pharma has struggled to find any promising solutions. Another major pharmaceutical—the Swiss-based Novartis—announced it is dropping out of the antibiotics game.
The day has come: Merck’s Keytruda surpasses Bristol-Myers Squibb’s Opdivo in Q2 sales
Merck & Co.’s blockbuster cancer drug Keytruda has delivered again in the second quarter, and this time, it has seized the PD-1/L1 crown from Bristol-Myers Squibb’s archrival Opdivo.
Genomic/Genetic Testing
Why consistent testing methods are crucial for liquid biopsies
A new study helps set standards for RNA sequencing, improving standard practice and laying the foundation to move the field forward.
Blockchain
3 blockchain startups and 1 big move to patient data ownership
The three companies include Nebula Genomics, Luna DNA, and Coral Health.
Artificial Intelligence
The pendulum of progress
Will artificial intelligence revolutionize medicine or amplify its deepest problems?
The Next Industrial Revolution Is Rising In Japan
Immunotherapy
CAR T-cell therapy ‘quite promising’ for glioblastoma
Chimeric antigen receptor T-cell therapy may overcome some of the obstacles associated with systemic therapy for patients with glioblastoma, according to a review published in Neuro-Oncology.
Experimental treatment uses modified stem cells to fight cancer
Dana-Farber Cancer Institute updates their guidelines on who should be treated with Immunotherapy?
Can immunotherapy succeed in glioblastoma?
A research update on efforts to use the immune system to treat brain cancer
Microbiome
The bacteria babies need
A strain of bacteria called B.infantis that is thought to have been the dominant bacterium in the infant gut for all of human history is disappearing from the Western world. A New York Times Opinion piece by Kristin Lawless.
Meta-analysis of human genome-microbiome association studies: the MiBioGen consortium initiative
Miscellaneous
Qiagen accused in suit of trade-secret theft, infringement
Qiagen stole trade secrets, infringed a patent, and engaged in deceptive trade practices to make products that compete with those of ArcherDX, the closely held genetic-sequencing company said in a lawsuit.
Archer is seeking, among other remedies, damages and all Qiagen profits derived from its unlawful conduct and court orders blocking sales of QIAseq Kits and the use of Archer trade secrets, according to a complaint filed July 11 in federal court in Wilmington, Del.
Trump slashes funding that helps people sign up for Obamacare
The Centers for Medicare & Medicaid Services announced Tuesday that it would provide only $10 million for the navigator program for this fall’s open enrollment season. The move is the latest effort by the Trump administration to undermine the Affordable Care Act.
Women bear Alzheimer’s burden; researchers are trying to discover why
Researchers are exploring biological and social differences that might explain why more women than men develop Alzheimer’s and other types of dementia.
ASHG honors Mary-Claire King with ASHG Advocacy Award
Human Longevity accuses J. Craig Venter of stealing secrets
Human Longevity (HLI) has accused its co-founder and former CEO, J. Craig Venter, of sharing secrets and using them to try to set up a competing business. It also accuses him of trying to poach Human Longevity’s employees, customers, and investors, despite having signed an agreement that he would not do so.
The hackers teaching old DNA sequencers new tricks
Outdated genome-sequencing machines need not die — researchers can repurpose them to drive next-generation biochemistry studies.
You Don’t Understand Long Noncoding RNAs
Dads Pass On More Than Genetics in Their Sperm
Publications
A parallel universe of clinical trials
DNA-induced liquid phase condensation of cGAS activates innate immune signaling
Researchers reveal massive genome chaos in breast cancer
A team, led by Michael C. Schatz and W. Richard McCombie of Cold Spring Harbor Laboratory, published a detailed map in Genome Research revealing about 20,000 structural variations, few of which have ever been noted due to technological limitations on a long-popular method of genome sequencing.
Genome doubling shapes the evolution and prognosis of advanced cancers
Physicians’ perspectives on receiving unsolicited genomic results (UGRs)
Twenty-five physicians addressed UGRs and (1) perceived need for actionability, (2) impact on patients, (3) health care workflow, (4) return of results process, and (5) responsibility for results.
Mapping the Genetic Landscape of Human Cells
Predicting the clinical impact of human mutation with deep neural networks
The Mysterious ‘Jumping Gene’ That Appears 500,000 Times in Human DNA
Its segments make up 17 percent of our genome, but scientists are only just starting to understand what it does.
Ancient dreams of intelligent machines: 3,000 years of robots
Stephen Cave and Kanta Dihal revisit the extraordinary history of cultural responses to automata
Funding
Mitra RxDx raises $40M in Financing
AI healthcare company Lunit raises $15 Million in series B funding round
Verge Genomics raises $32M ins series A to lead artificial intelligence-driven drug discovery
NewStem raises $4M in seed funding
Alphabet’s Verily is spinning out another joint venture, this time with ResMed, to help people with undiagnosed and untreated sleep apnea.
Both companies are investing an undisclosed amount in the as-yet-unnamed venture, and is focused on sleep apnea and other sleep breathing disorders.
Cannabis Testing Company PathogenDx Raises $3.4 Million
SoftBank-Backed Cancer Detector Guardant Said to Weigh U.S. IPO
News for the month of June 2018
There were lots of corporate announcements this June. Invitae shared news that it will expand its reproductive health offering with the launch of comprehensive genetic carrier screening. Roche is set to acquire Foundation Medicine for $2.4bn, Bluebee achieved ISO 13485 medical device quality standard certification, and Helix closed its $200M Series B funding round. Additionally, Ginkgo Bioworks raised $429 million, including from Cascade Investment, the asset management firm of Bill Gates.
NGS/Genomics
Lexogen and Bluebee collaborate to streamline Quantseq-UMI sequencing data analysis pipeline
The new data analysis pipeline will be made available on the Bluebee genomics analysis platform.
Bluebee achieves ISO 13485 medical device quality standard certification
ISO 13485 is an internationally recognized medical device quality management systems standard, which was awarded to Bluebee for its design and development of software solutions and data processing algorithms intended for use in diagnostics and clinical reporting.
Intermountain Precision Genomics now accepting DNA sequencing project proposals with matching funds up to $100,000
Intermountain Precision Genomics announces a “Call for Proposals” for creative and innovative translational research projects. The application deadline is August 1,2018 with funded projects announced by September 15, 2018.
QIAGEN announces broadening of GeneReader NGS System applications into hereditary disease analysis
With great genomic data comes great responsibility
Big data is both an asset and a challenge. The more patients’ genomes there are in a data set, the greater the potential of that data set to yield accurate insights into human disease and health, and the greater the importance of holding and using the data in a responsible way.
Interpace Diagnostics Announces Coverage of Thyroid Testing by Blue Cross Blue Shield of Florida
Interpace’s ThyGenX® and ThyraMIR® assays are now covered for thyroid modules deemed indeterminate by standard cytopathology analysis for Florida Blue’s more than three million members.
New human gene tally reignites debate
Some fifteen years after the human genome was sequenced, researchers still can’t agree on how many genes it contains.
DNAstack and Autism Speaks® Announce Collaboration to Accelerate Scientific Discovery on One of the World’s Largest Autism Genome Databases
Through this collaboration, DNAstack will organize one of the largest collections of autism genomes in the world, making them more accessible and analyzable, accelerating the pace at which researchers can use the resource to make discoveries.
Rapid genome sequencing could revolutionize health care for acutely ill babies
Genomic/Genetic Testing
GRAIL announces data on detection of early-stage lung cancers
In a sub-analysis of the first pre-planned sub-study of CCGA, blood samples from 127 participants with lung cancer were evaluated with three prototype genome-sequencing assays. Detection rates (sensitivity at 98% specificity) across the assays ranged from 38 -53% in participants with early-stage lung cancer (stages I-IIIA), and 87 – 89% in those with later stages (stages IIIB-IV).
The FDA slacks regulations on genetic health risk tests
Some regulatory hurdles for makers of direct-to-consumer genetic health risk test have been lifted, according to a notice published by the US Food and Drug Administration.
This nation faces a DNA dilemma: Whether to notify people carrying cancer genes
Since the late 1990s, tens of thousands of Icelanders have agreed to contribute their DNA to public-private science projects aimed at delivering medical breakthroughs. But in contributing their DNA — and in many cases, their medical records — these people never explicitly consented to be notified of personal health risks that scientists might discover.
Icelandic regulators have determined that without that explicit consent, neither the government nor private industry can notify people of these risks.
Invitae expands reproductive health offering with launch of comprehensive genetic carrier screening
The test is designed to provide affordable, accessible information on genetic changes that pose a risk for parents of having a child with an inherited genetic disorder.
NanoString Announces Collaboration with National Cancer Institute to Improve Cancer Immunotherapy Biomarker Discovery
The collaboration supports NCI/CTEP efforts to implement novel strategies to correlate therapeutic treatment with patient response across a range of tumor types by incorporating the PanCancer IO 360TM Gene Expression Panel into select active and future NCI-sponsored clinical trials.
One of America’s Biggest Genetic Testing Companies Refuses to Share Data That Could Save Countless Lives
Many companies contribute to open databases – but not Myriad Genetics
Biotech Firm Grail Takes The First Steps In Its Quest For A Blood Test For Cancer
Artificial Intelligence
Insurers turn to artificial intelligence in war on fraud
Machine learning is helping the insurance industry flag suspicious claims–and even crawl through social media accounts to find fraud.
London Touts Itself as The AI Capital of Europe
Khan’s AI report was pulled together by CognitionX, a London-based AI advice service. The report found that investment into “AI companies” in London had exceeded £200 million in 2017, a year-on-year increase of more than 50%.
Bias detectives: the researchers striving to make algorithms fair
As machine learning infiltrates society, scientists are trying to help ward off injustice.
The top 5 startups disrupting healthcare using AI, digital therapeutics, health insurance, and genomics
Freenome, Genoox, Helix, Karius, and Verge Genomics
Precision Medicine
Nightingale Health and UK Biobank announces major initiative to analyse half a million blood samples to facilitate global medical research
Nightingale Health, a Finnish biomarker technology-based company, will analyse the biomarker profiles of 500,000 blood samples from UK Biobank.
Intermountain Healthcare brings awareness of precision medicine to the public through clinical implementation
The online survey asked 1,001 adults representative of the U.S. population various questions about their awareness on the topic. The results showed a lack of education on what genomics is and what it can do for their personal care.
WCG (WIRB-Copernicus Group) Clinical Services Division partners with InformedDNA to help sponsors design and execute more effective clinical trials
Under the strategic partnership, WCG and InformedDNA will launch the Center for Genetics and Precision Medicine in Clinical Trials, which will unite InformedDNA’s substantial genetics resources and expertise with WCG’s global network of 550 experts in clinical trial optimization and its proprietary industry Knowledge Base™.
Session at ASCO shows community oncology success in precision medicine
Harvard Project Seeks ‘Exceptional Responder’ Cancer Patients To Figure Out What Went Right
Tweeting Oncologist Draws Ire And Admiration For Calling Out Hype
Dr. Vinay Prasad @VinayPrasadMD has made a name for himself by calling out the hype surrounding #precisionmedicine and confronting other examples of hype in his field.
Loxo Scores A Success With Second Targeted Cancer Drug
‘Holy grail of cancer research’: doctors positive about early detection blood test
Liquid biopsy blood tests show signs of finding 10 different types of cancer at an early stage.
Gene treatment helps rats with spinal cord injury regain their nerves
Hopes for injured humans and larger animals as groundbreaking gene therapy helps mend damaged nerves on the spine of rodents by dissolving scar tissue.
CRISPR
Making genome editing easier for all
The simpler, faster CRISPR, which is presented in the journal Nature Communications, offers a broad platform for off-the-shelf genome engineering that may lower the barrier of entry for this powerful technology.
UC Berkeley Finally Scores a Win With Two CRISPR Patents
One, granted on Tuesday, was first applied for in 2014. The other and more significant patent, applied for in 2015 but based on a 2012 discovery, will be granted next week.
Doudna-Charpentier team awarded U.S. patent for CRISPR-Cas9
The U.S. Patent and Trademark Office has granted patent number 10,000,772 to the University of Berkeley covering the use of CRISPR-Cas9 gene editing with formats that will be particularly useful in developing human therapeutics and improvements in food security.
Treating genetic disease: Is a cure a cut away?
Miscellaneous
NIH releases strategic plan for data science
By 2025, the total amount of genomics data alone is expected to equal or exceed totals from the three other major producers of large amounts of data: astronomy, YouTube, and Twitter.
The generation of most biomedical data is highly distributed and exist in a wide variety of formats, which complicates the ability of researchers to find and use biomedical research data generated by others and creates the need for extensive data “cleaning.”
New cancer treatments lie hidden under mountains of paperwork
A NYT article by Gina Kolata making a case for data sharing to fight cancer.
Six Isreali companies personalizing cancer treatment
Expertise in data science has pushed Israel to the forefront in devising technologies for predicting the best course of treatment for each patient. Companies are: Curewize, Rosetta Genomics, NovellusDx, ChamptionsOncology, Barcode Diagnostics, and Optimata.
FDA approves first drug comprised of an active ingredient derived from marijuana to treat rare, severe forms of epilepsy
The U.S. Food and Drug Administration approved Epidiolex (cannabidiol) [CBD] oral solution for the treatment of seizures associated with two rare and severe forms of epilepsy, Lennox-Gastaut syndromeand Dravet syndrome, in patients two years of age and older.
AARP invests $60M in the Dementia Discovery Fund to kick-start its ‘Disrupt Dementia’ campaign
New AARP physician survey underscores the need for innovative solutions to World’s Brain Health Crisis impacting more than 50 million people.
FDA repays industry by rushing risky drugs to market
As pharma underwrite 3/4 of the FDA’s budget for scientific reviews, the agency is increasingly fast-tracking expensive drugs with significant side effects and unproven health benefits.
FDA approves first drug comprised of an active ingredient derived from marijuana to treat rare, severe forms of epilepsy
The U.S. Food and Drug Administration approved Epidiolex (cannabidiol) [CBD] oral solution for the treatment of seizures associated with two rare and severe forms of epilepsy, Lennox-Gastaut syndromeand Dravet syndrome, in patients two years of age and older.
Future of Cardiology Will Be Defined by Digital, Mobile Advances
Microbe Breaks ‘Universal’ DNA Rule by Using Two Different Translations
Whole-Genome Sequencing Gaining Traction in Public Health, Outbreak Surveillance
Can a Parent’s Life Experience Change the Genes a Child Inherits?
Blockchain
Dash Puts Science Research On The Blockchain
Why publish a genome to the blockchain? It helps prevent agribusiness from claiming a patent to the genome in the future, is the short answer.
Microbiome
A short course of laxatives has long-lasting effects on microbiome
Drugs prompt some gut bacteria to vanish in mouse
Publications
A novel data-driven method to personalize cancer treatment
PanDrugs is a new computational methodology that prioritizes drug treatments based on patient genomic data and is the first drug prescription tool that takes into account pathway context, collective gene impact, and information from functional experiments.
CRISPR-FRT targets shared sites in a knock-out collection for off-the-shelf genome editing
Massive study sheds light on the genetic roots of a dangerous, yet common, heart arrhythmia
Published in Nature.
Framework identifies genetic missense mutations linked to autism spectrum disorder
Prevalence and properties of intragenic copy-number variation in Mendelian disease genes
This Invitae publication investigates the frequencies and characteristics of intragenic copy-number variants (CNVs) in a deep sampling of disease genes associated with monogenic disorders.
Structural alterations driving castration-resistant prostate cancer revealed by linked-read genome sequencing
Paper demonstrating the power of 10x Genomics Linked-reads.
Researchers discover a new type of lung cancer
Genomics offers new treatment options for infants with range of soft tissue tumours
Scientists uncover the genetic changes causing a group of related infant cancers
Genes associated with infantile forms of schizophrenia identified
Some science journals that claim to peer review papers do not do so
Key molecule of aging discovered
Genomic and Molecular Landscape of DNA Damage Repair Deficiency across The Cancer Genome Atlas
PanCancer atlas study finds homology-dependent recombination and direct repair the most frequently altered DNA damage repair alterations across TCGA
Next-generation sequencing tests to become routine
Upfront Next-Generation Sequencing Is Faster, More Cost Effective in Metastatic NSCLC
The Microbiome and Systemic Lupus Erythematosus
A clinician’s guide to microbiome analysis
One of the Most Widely Used Methods in Epigenetics Can Cause Misleading Results
Funding
Editas Medicine commits $125M to Broad to secure source of genome editing inventions
The deal gives Editas first refusal on genome editing inventions developed in the sponsored research.
Why Bill Gates is betting on a start-up that prints synthetic DNA
Ginkgo Bioworks has raised $429 million, including from Cascade Investment, the asset management firm of Bill Gates, and is reportedly worth $1 billion.
Roche bags full control of Foundation Medicine in $2.4B follow-up buyout
AbbVie and Calico add additional $1 Billion to 2014 age-related disease deal
Mergers and Acquisitions
SOPHiA GENETICS acquires Interactive Biosoftware to drive growth
Roche to acquire Foundation Medicine for $2.4bn
DNA app store-runner Helix builds out its C-suite, acquires Denver-based HumanCode
Bio-Techne to Acquire Liquid Biopsy Firm Exosome Diagnostics for $250M
News for the month of May 2018
This May, Geisinger moved to make DNA sequencing a part of its standard clinical care. The resulting expanded program moves its population health genomics program beyond research and into routine clinical practice.
Three years after beginning the All of Us Research Program (PMI), the NIH announced that it is officially inviting all Americans to contribute to a massive genetic library said to be more inclusive and accessible than any such database built so far. Dr. Francis Collins was recently interviewed on what to expect from the Precision Medicine Initiative.
NGS/Genomics
Illumina acquires Edico Genome to accelerate genomic data analysis
The DRAGEN platform to complement Illumina’s sequencing portfolio and to enable customers to benefit from reduced investment in compute infrastructure, and accelerated result times, to improve their overall efficiency and to allow greater emphasis on interpretation and reporting.
More news coinciding with Bio-IT World 2018 on our blog.
Google adds new life science platform partners to GCP
New platform and software providers in the biomedical space are joining Google Cloud: PetaGene, BC Platforms, OnRampBio, Seven Bridges Genomics, and WuXi NextCODE.
More news coinciding with Bio-IT World 2018 on our blog.
Swift Biosciences and Genomenon announce a partnership to accelerate biomarker selection for targeted NGS panels
Genomenon and Swift will co-market solutions in an integrated offering to make it easier to construct, validate, and implement custom NGS assays as a follow-up to whole genome or exome sequencing studies, and dive deep into specific biological pathways.
New startup becomes Airbnb for gene sequencers
Meenta is an instrument sharing service for Next-Generation Sequencing. Meenta maps sequencers into a network of shared sequencing. Each host facility – a combination of universities, research hospitals, private institutions, and commercial companies – sets their own sequencing price. They can, however, change them at any time, to say throw a flash sale when they need to fill up a few lanes. Just like Uber and Airbnb, Meenta collects a small fee to broker each transaction.
Next-Generation Sequencing Proves Cost-Effective in Metastatic non-small cell lung cancer
The genome sharing economy: How you could make money renting out your DNA
Making next-generation preconception screening a reality for parents
Next-Gen Sequencing: The Clinical Conundrum
Future appears bright, but drawbacks can range from annoying to disheartening
Genomic/Genetic Testing
Genetic testing is dead, long live genetic testing: Sean George of Invitae
An interview with Sean George, CEO of Invitae on Mendelspod.
Color Genomics is rolling out services to test for genes linked to cancer and high cholesterol
Color is partnering with universities who will make the tests available to patients alongside a counselor.
Can genetic counselors keep up with 23andMe?
The rise of spit kits is leaving consumers with lots of data and few answers. Genetic counselors could help people understand these results, but there aren’t enough of them to go around.
Sarepta and Invitae Expand Partnership to Advance Clinical Research in Duchenne Muscular Dystrophy
Blood Transfusions Via Genome Sequencing
Researchers call for new genetic tests for congenital diseases
Researchers from the Mount Sinai School of Medicine and collaborators have discovered that genetic mutations called epivariations are the cause of certain neurodevelopmental disorders and congenital diseases.
Genetic Testing Could Result in Life-Extending Treatment for Incurable Pediatric Brain Tumors
Medicine’s Wild West: 10 new genetic tests enter the market each day
Artificial Intelligence
AI is key to precision medicine, but hospitals must have strategies for data integrity
That goes both for IT buyers making decisions about technology and clinicians not getting “bamboozled” by questionable data science, experts said at the Precision Medicine Summit.
London hospitals to replace doctors and nurses with AI for some tasks
UCLH aims to bring ‘game-changing’ benefits of artificial intelligence to NHS patients, from cancer diagnosis to reducing wait times.
AI in the Life Sciences: Six Applications
Big Data Plus Machine Learning Equals Scientific Advancement
Companion Dx
FDA approves first NGS-based companion Dx
Next-generation sequencing based companion diagnostics with the potential to detect multiple lung cancer mutations – Thermo Fisher Scientific’ Oncomine DX Target Test diagnostics test to identify 369 variants in 23 genes in a single assay for lung cancer – has been approved by the FDA. Unlike most tests that are run exclusively by labs in which they were developed, these NGS based tools can be distributed all over the USA, FDA approval signal shifts in diagnostics.
Foundation Medicine to develop MSI diagnostic for Merck’s Keytruda
Precision Medicine
The government is opening the doors to its big new genetics library
The government is opening the doors to its big new genetics library. The NIH officially launches the All of Us initiative.
Interview with Dr. Francis Collins
On what to expect from the recently announced Precision Medicine Initiative.
Geisinger to make DNA sequencing a part of routine clinical care
According to Feinberg, Geisinger will launch its clinical DNA sequencing initiative with a 1,000-patient pilot program over the next six months. Once the pilot is completed, the program will then be rolled out throughout its sites in Pennsylvania and southern New Jersey.
The DNA data we have Is too white. scientists want to fix that
In an era of personalized medicine, not including minorities in genetic studies has real-world health impacts.
Harvard Business School Kraft Precision Medicine Accelerator brings together five leading cancer organizations to engage patients and accelerate precision medicine across cancers
A pilot program aimed at engaging and empowering patients around their treatment journey. The organizations include LUNGevity Foundation, the Metastatic Breast Cancer Alliance, the Multiple Myeloma Research Foundation (MMRF), the Pancreatic Cancer Action Network (PanCAN), and the Prostate Cancer Foundation.
GenomWeb survey on public awareness of personalized medicine
Less than 10 percent said they had heard of the All of Us Research Program and most aren’t willing to pay more than $100 out of pocket for whole-genome sequencing.
PierianDx Partners with ScienceVision to Bring Robust Precision Medicine Support to Southeast Asia
New Cancer Treatments Lie Hidden Under Mountains of Paperwork
How Genomics Are Guiding Lung Cancer Patients Into Clinical Trials
Are You And Your Primary Care Doc Ready To Talk About Your DNA?
Protecting confidentiality in genomic studies
Microbiome
A gut bacterium’s guide to building a microbiome
Unlike invading pathogens, which are attacked by the immune system, certain good bacteria in the gut invite an immune response in order to establish robust gut colonization.
Are the gut microbiota determined by genes or the environment?
As the importance of the gut microbiota becomes increasingly clear, researchers clarify whether it is shaped by genes or the environment.
CRISPR
CRISPR’s MAGESTIC Evolution Makes Gene Editing More Precise
Miscellaneous
Golden State Killer and the cancer prediction space
Mendelspod discussion – ethical issues, Zuckerberg before Congress, and AACR – with Nathan Pearson (Root Deep Insight) and Laura Hercher (Sarah Lawrence College).
23andMe sues ancestry for patent infringement, misleading marketing
Genomic medicine: catch the gene therapy wave
This article kicks off a series on cell and gene therapy and genome (aka gene) editing.
Genome pioneer Craig Venter is retiring from Human Longevity and returning to JCVI
Biology will be the next great computing platform
Synthego is making molecules to rewrite the code of life.
Every Cell in Your Body Has the Same DNA. Except It Doesn’t
Top 10 Under 40
Biopharma Research and Businesses Benefit from Contributions of Emerging Leaders
Publications
Data sharing in PLOS ONE: An analysis of Data Availability Statements
Biologists discover function of gene linked to familial ALS
A study in worms reveals gene loss can lead to accumulation of waste products in cells.
Big data tool predicts best lung cancer treatment
Link between Huntington’s Disease And Rheumatoid Arthritis found
Scientists find fear, courage switches in brain
Comprehensive genetic testing for female and male infertility using next-generation sequencing
First-line genomic diagnosis of mitochondrial disorders
New chromosome study can lead to personalized counseling of pregnant women
Funding
Celsius Therapeutics bags $65M to develop precision drugs for cancer, autoimmune disease
Genoox closed $6 million in series B
FogPharma raised $66 million in series B
Strata Oncology raised $26 million in series B
Mergers and Acquisitions
Illumina buys start-up Edico Genome for $100M to help speed up genetic analysis
More news coinciding with Bio-IT World 2018 on our blog.
Agilent Technologies to enhance lab informatics with the acquisition of Genohm
Learn more about Genohm and their LIMS product on our blog.
Shire says willing to recommend Takeda’s $64 billion offer to shareholders
It would be the biggest acquisition of a drug company this year.
Myriad to acquire Counsyl for $375M
The acquisition expected to close in 2019. Counsyl has experienced rapid growth since being founded in 2007, and in the last twelve months alone has generated more than $134 million in revenue and performed over 280,000 reproductive genetic tests.
News Coinciding with Bio-IT World 2018
Following is a review of the different announcements that coincided with the conference spanning commercial product launches, new partnerships and collaborations, product integrations, and other interesting and relevant topics.
Read the full Bio-IT World 2018 enlightenbio blog.
Strategic partnerships and collaborations
Google Cloud for Life Sciences adds new products and partners: Google is actively working in the life science sector as demonstrated with a new product launch and the announcements of new partnerships of which the complete list now includes: BC Platforms, the Broad Institute’s FireCloud, Dell EMC, DNAstack, Elastifile, Komprise, OnRamp.Bio, Petagene, Seven Bridges Genomics, and WuXi NextCODE.
PierianDx partners with ScienceVision to bring precision medicine support to Southeast Asia Under the partnership, ScienceVision will commercialize and distribute the PierianDx Clinical Genomics Workspace™ (CGW) platform for clinical genomic informatics, classification, interpretation, and clinical reporting.
Product launches
Google Cloud showcased their recent progress with an example being Variant Transforms, which helps organizations structure genomic variant data in BigQuery.
Bluebee introduces BLUEBASE which runs on the Bluebee core data analysis platform and provides post-sequencing intelligent data aggregation, data querying, and deep knowledge mining. BLUEBASE is designed for use by diagnostic assay developers, pharmaceutical researchers, clinical trial operators, and investigators of population-scale initiatives.
Linguamatics debuts iScite, which supports artificial intelligence-based scientific searches and guides their users via an Answer Routing Engine that delivers insightful answers to their search questions across biomedical data sources.
L7 Informatics Announces the Availability of Microsoft Genomics on the L7 Enterprise Science Platform The expanded offering enhances ESP’s configurability and content portfolio. Furthermore, L7 has validated the performance of ESP on Microsoft Azure, enabling its users to confidently utilize Azure for their scientific process and data management needs.
BioBam Launches a New Version of Blast2GO for the analysis of novel genomes. With the launch of Blast2GO Version 5 it is now an all-in-one solution for functional genomics analysis of newly sequenced organisms. With this latest version, users will benefit from several new visualization and workflow features allowing them to perform high-throughput as well as exploratory analysis in just one place.
Dotmatics announced Bioregister 3.0, a registration system which offers new capabilities that enhance intellectual property protection and supports emerging methodologies in biologic drug discovery.
Acquisitions
Illumina to acquire Edico Genome for $100M Edico’s platform will be accessible through Illumina sequencers or on the cloud. Illumina will work with cloud storage providers such as Amazon to make Edico’s pipelines available on Illumina’s BaseSpace analysis platform.
Agilent Completes Genohm Buyout, Strengthens Portfolio The acquisition will allow Agilent to widen its growth prospects, and further expand its software portfolio by adding LIMS and workflow management. This strategic acquisition complements Agilent’s own sales efforts and will help it to offer better services to its customers. Learn more about Genohm in the enlightenbio company spotlight Genohm Aims to Hit the Sweet Spot With a Customizable SLIMS + ELN Solution for Lab Information Management.
Other News of Interest
Lab7 Systems Appoints New CEO and Changes Name to L7 Informatics which reflects the expansion of L7 Informatics’ product offering on its mission of providing synchronized solutions for science and health, and to pioneer scientific process and data management (SPDM) in order to accelerate discoveries and drive higher quality of healthcare. Along with this name change the company also announced its new website at l7informatics.com.
Broad Institute is seeking every drug ever developed to build the Drug Repurposing Hub to find new potential uses.
Broad Institute Spin Out Aims To Bring Precision Medicine To Autoimmune Disease Celsius Therapeutics, is launching with $65 million from funders including Third Rock Ventures, GV (formerly Google Ventures), Heritage Provider Network, Casdin Capital, and Alexandria Venture Investments. It aims to use Regev and Kuchroo’s techniques for constructing detailed profiles of individual cells to develop drugs for autoimmune diseases and cancer immunotherapies.
News for the month of April 2018
In April, the GIANT Consortium announced that it is adding an additonal 1 million research participants to its study on the genetics and biology of height and obesity with data from 23andMe and the UK Biobank. This study could bring substantial insights into health predictions and screening.
Another exciting announcement is that 13 European countries have committed to work together and ensure secure and authorized cross-border access to genomic and other health data. The UK, Sweden, Finland, Czech Republic, Estonia, Spain, Portugal, Slovenia, Malta, Luxembourg, Lithuania, Greece and Italy, have pledged to share one million genomes for research purposes by 2022.
Genomic/Genetic Testing
High hopes for understanding height and obesity
New collaboration with the Broad Institute, adding an additional 1 million research participants to the GIANT Consortium’s study on the genetics of height and obesity.
Helix takes clinical genetic testing straight to the consumer
Starting this summer PerkinElmer will start selling its 59 gene test – with a role in one of 34 conditions that are treatable if caught early – through the consumer genomics marketplace Helix.
GRAIL announces data from prototype blood tests for early cancer detection
Initial Results from the Circulating Cell-Free Genome Atlas (CCGA) study support feasibility of a highly specific blood test for early cancer detection.
Consumers don’t need experts to interpret 23andMe genetic risk reports
Study Finds Inaccuracies in 40 Percent of DTC Genetic Testing Results
Fantasy No Longer: Blood Biopsies Detect Tumor DNA, Could Catch Cancer Earlier
Decoding your baby’s DNA: It can be done. But should it be?
NGS/Genomics
Genomenon, Veritas Partner on literature engine for variant interpretation
The companies have committed to creating an engine they said will further scale the global adoption of whole genome sequencing by reducing the time and cost of variant interpretation.
Genomenon, Rhythm Pharma partner on database of obesity mutations
The goal of the partnership is to create a database of genetic mutations associated with obesity as documented in published studies.
Podcast with Fiona Nielsen, CEO of Repositive
Discussing the data access bottleneck and her motivation to unlock it to benefit the entire community.
Genomenon Adds ACMG Classification Features to the Mastermind Genomic Search Engine
Blockchain
Blockchain technology used to record 50 million DNA data in India – Blockchain News
The Government of Andhra Pradesh (AP), India’s eighth-largest state, announced that it has signed a partnership with Shivom, a Germany-based private firm that deals in genomics and precision medicine to design a blockchain database for collecting and storing data of its 50 million citizens.
Blockchain and early cancer detection
ARNA Genomics (Russian company) plans to release ARNA tokens via ARNA Panacea, to be used for payments within the system by all platform members, allowing patients to pay tokens for tests of early cancer detection.
Blockchain templates unveiled by Amazon Web Services
Amazon targets the healthcare and finance industries with the new tools for developing blockchain-based apps, networks and projects.
Blockchain project will reward donors for their genomic data
Companion Dx
Bristol Partners With Illumina on diagnostic test to use with Opdivo
Drug giant Bristol-Myers Squibb is partnering with Illumina to develop diagnostic tests that will pair with Bristol’s cancer drugs.
Roche expands indication for cobas® EGFR Mutation Test v2 as a companion diagnostic with TAGRISSO®
Precision Medicine
TCGA completes comprehensive genomic analysis of 33 cancer types
After a decade of analyzing over 11,000 tumors from 33 types of cancer, the collaboration between the National Cancer Institute and National Human Genome Research Institute has launched the Pan-Cancer Atlas, providing a comprehensive understanding of 3 focus areas: cell-of-origin patterns, oncogenic processes, and signaling pathways.
Henry Ford Health to build new cancer center with $20 million anonymous gift
The Henry Ford Pancreatic Cancer Center will focus on various initiatives that hope to yield earlier detection for a disease that is often identified.
New Tools Push the Boundaries of Precision Medicine
As genomic data begins to inform more aspects of patient care, new products, AI and the cloud offer to simplify the storage and use of DNA information.
Why The Future Of Precision Medicine Runs Through The IVF Lab
What does precision medicine mean for biotechnology? It means a future where every inherited genetic disease is curable.
Changing the game: Machine learning in healthcare
A game changer for EHR.
Why the Healthcare Cloud Holds the Key to Future Innovation
Cloud Computing
Chinese Academy of Sciences launches cloud platform for researchers
Applications on the cloud platform are divided into five categories: data resources, cloud computing with AI and supercomputers, research software support, research community networks and outreach to foreign scientists and platforms. It draws data from the academy’s research institutes and major scientific installations, as well as many of China’s top universities and private innovation centers.
Miscellaneous
Data in their DNA: Repositive.io builds common ground for genomic research
Fiona Nielsen, Repositive’s Founder and CEO, has a vision of the future where researchers can browse millions of datasets, all in a centralized place, to find the data they need to keep their studies moving forward.
Transitioning from big data to discovery: data management as a keystone analytics strategy
By Ari Berman, BioTeam, Inc.
UCSF names first-ever Chief Genomics Officer
UC San Francisco has appointed Aleksandar Rajkovic, MD, PhD, as the first Chief Genomics Officer (CGO) of UCSF Health Precision Medicine Leader to oversee clinical genomics across UCSF Health.
Lawsuit alleges Michigan illegally obtains newborns’ blood
A group of Michigan parents have filed a lawsuit alleging that the state didn’t obtain proper consent to draw or store their newborns’ blood for medical research.
Earth Biogenome project aims to sequence genomes of 1.5M species
This will take 10 years, costs $4.7 billion and will require more than 200 petabytes of digital storage capacity.
Accenture releases 2018 consumer survey on digital health
According to the research, healthcare consumers continue to show strong use of digital technology for self-service care. In 2018, 75% of US consumers surveyed said technology is important to managing their health. Patients are increasingly open to intelligent technologies taking on elements of their care, such as medical consultations and monitoring.
13 countries sharing 1 million genomes for research
Sir John Bell: “This programme should provide a new global standard for human genome sequencing and will greatly improve our ability to define and treat disease.” France and Germany have not signed up to the agreement so far.
Institutional support for data sharing
As the profound benefits of research data sharing have been recognised by institutions, funders, and individual researchers, we have seen a number of high-profile funding agencies implementing open data policies to complement their existing open access mandates. Adopters of such policies include the European Commission’s Horizon 2020 programme, the Wellcome Trust, and the Bill and Melinda Gates Foundation.
Happy 15th Birthday, Human Genome Project
Genetics Research Is Failing Most of the World’s Population
Elaine Mardis Chosen as 2018-2019 AACR President-Elect
Personalized Medicine accepted for coverage by MEDLINE
How the DNA Revolution Is Changing Us
Infinitesimal Odds: A Scientist Finds Her Child’s Rare Illness Stems From the Gene She Studies
Microbiome
More than half your body is not human
Human cells make up only 43% of the body’s total cell count. The rest are microscopic colonists. Understanding this hidden half of ourselves – our microbiome – is rapidly transforming understanding of diseases from allergy to Parkinson’s.
Microbes in the Gut Influence Neurodegeneration
Publications
A global transcriptional network connecting non-coding mutations to changes in tumor gene expression
Researchers have identified nearly 200 mutations in non-coding DNA that play a functional role in cancer.
Found: a new form of DNA in our cells
Scientists have tracked down an elusive ‘tangled knot’ of DNA.
Tensions in ethics and policy created by National Precision Medicine Programs
Comparative molecular analysis of gastrointestinal adenocarcinomas
New TCGA papers shed light on cancer development.
β-Amyloid accumulation in the human brain after one night of sleep deprivation
The clinical impact of using complex molecular profiling strategies in routine oncology practice
False positive plasma genotyping due to clonal hematopoiesis
Current understanding of the human microbiome
Natural barcodes enable better cell tracking
New method uses patients’ unique genetic variation profiles to aid in personalized medicine
NIH study revises molecular classification for most common type of lymphoma
Funding
Jeff Bezos-backed cancer startup is said to seek to raise US$1 billion
Kineta Chronic Pain Inks License Deal with Genentech for Over $359 Million
Seattle-based Kineta Chronic Pain, a subsidiary of Kineta, signed an exclusive option and license deal with Genentech, a Roche company. The two companies will develop Kineta’s alpha9/alpha10 nicotinic acetylcholine receptor (nAChR) antagonists to treat chronic pain.
LG Health, Aspire launch $300 million precision medicine fund
Healthcare-focused fintech startup AffordPlan raises $10 M in Series B funding
NuProbe Announces $11 Million Series A Funding Round
Mergers and Acquisitions
Novartis to expand gene therapy pipeline with acquisition of AveXis for $8.7 billion
Roche completes $1.9 billion acquisition of digital healthcare technology company Flatiron Health
News Coinciding with ACMG April 2018
Following is a review of the different announcements that coincided with the conference spanning commercial product launches, new partnerships and collaborations, product integrations, and other interesting and relevant topics.
Read the full ACMG 2018 enlightenbio blog.
Genetic testing / precision medicine
Geisinger execs: DNA sequencing program saving patient lives – Over time, as we sequence the exomes of our patients & learn even more about particular genome variants and their impact on health conditions, we predict that ~10-15% will benefit. With more than 90,000 people participating in Geisinger’s MyCode initiative, 3% have genetic variants that can be used to forecast health problems, and the number is expected to rise.
Invitae research highlights utility of proactive genetic screening, importance of assessing secondary findings in genetic testing Healthy individuals are increasingly seeking genetic testing to identify their personal risks for inherited conditions that may affect disease emergence and outcome in areas such as such as cancer and cardiovascular disease. An analysis of 1,300 patients tested with a diagnostic-grade genetic screening panel designed for healthy adults found clinically actionable results in 16 percent of patients.
Cancer Treatment Centers of America and Foundation Medicine Launch Joint Educational Campaign to Raise Consumer Awareness of Precision Medicine Approaches in Cancer Care The collaboration brings together CTCA, a nationwide cancer care network committed to delivering precision treatment, and Foundation Medicine, a leader in molecular testing that offers a suite of comprehensive genomic profiling (CGP) assays that may help identify alterations in an individual’s cancer and matches them with potentially relevant targeted therapies, including immunotherapies.
Strategic partnerships and collaborations
Loxo Oncology and Illumina to partner on developing next-generation sequencing-based pan-cancer companion diagnostics Loxo Oncology will utilize a companion diagnostic version of TruSight Tumor 170 for Larotrectinib (NTRK) and LOXO-292 (RET).
Charles River Laboratories and PathoQuest expand strategic biologics partnership The expansion of their strategic partnership agreement will provide next-generation sequencing (NGS) services to the biologics industry. As part of the expanded partnership, Charles River intends to make a direct investment in PathoQuest.
Product launches
Launch of AMELIE (Automated Mendelian Literature Evaluation) – The Stanford Bejerano lab launched a new literature mining tool with intends to simplify monogenic disease diagnoses with exome sequencing. Gill Bejerano presented the findings from an analysis of more than 200 singleton Mendelian disease cases.
Jude Cloud launches for researchers worldwide St. Jude, in collaboration with Microsoft and DNAnexus, will offer NGS data and analysis tools to accelerate research and cures for life-threatening pediatric diseases.
Fluidigm releases CFTR next-generation sequencing library prep assay for use with the Juno System The new assay, the Advanta™ CFTR NGS Library Prep Assay, is a highly efficient and scalable next-generation sequencing (NGS) library prep workflow for sequencing of the CFTR (cystic fibrosis transmembrane conductance regulator) gene.
Genoox collaborates with Bionano Genomics to enhance the detection of disease-causing structural variants in DNA The two companies intend to develop a genome informatics workflow to integrate and annotate Bionano structural variant calls with sequencing data within the Genoox platform.
PerkinElmer collaborates with Helix to drive innovation in exome-based personal genomics The initial targeted product offering will return results for 59 genes that the American College of Medical Genetics and Genomics (ACMG) identifies as highly penetrant genetic conditions with established interventions aimed at significantly reducing morbidity and mortality. All DNA sequencing data for these products will be generated utilizing Helix’s proprietary Exome+ assay in its CLIA- and CAP-certified next-generation sequencing laboratory.
Veracyte announces precision medicine collaboration with Loxo Oncology The agreement leverages Veracyte’s new Afirma Xpression Atlas Platform to advance development of highly selective medicines for patients with genetically defined cancers, including thyroid cancer.
Other
TCGA Completes Comprehensive Genomic Analysis of 33 Cancer Types After a decade of analyzing over 11,000 tumors from 33 types of cancer, the collaboration between the National Cancer Institute and National Human Genome Research Institute has launched the Pan-Cancer Atlas, providing a comprehensive understanding of three focus areas: cell-of-origin patterns, oncogenic processes, and signaling pathways.
FDA finalizes guidances to accelerate the development of reliable, beneficial next generation sequencing-based tests The new policies issued are meant to provide a modern and flexible framework to generate data needed to support the FDA’s review of NGS-based tests, and give developers new tools to support the efficient development and validation of these technologies.
Researchers Turn to Facebook to Survey Rare Disease Patients for Study Nara Sobreira (Assistant Professor of Pediatrics, Johns Hopkins University School of Medicine), described how she used the social media platform to contact patients with two rare diseases she has been studying — Ollier disease and Maffucci syndrome — to survey them for a study that also involved data from a review of the clinical literature.
Paul R. Billings joins Natera as Chief Medical Officer and Senior Vice-President of Medical Affairs to help lead its efforts across reproductive health, oncology, and new emerging businesses.
Chris Callahan joins PierianDx as Chief Commercial Officer to drive expansion of its genomics technology platform for clinical labs. Callahan previously was at Sunquest Information Systems where he held the role of VP and General Manager for GeneInsight.
News for the month of March 2018
In March, the FDA authorization of 23andMe’s new reporting of 3 of the more than 1,000 BRCA1/BRCA2 mutations took center stage. Though this authorization classifies 23andMe’s report as a medical device and requires the company to address and reduce risks to customers, it is argued that this test will only be helpful to a small subset of people, a pitfall of consumer breast cancer testing.
Other worthy news is the newly established partnership between Google and WuXi NextCODE. Google will begin hosting WuXi NextCODE’s core suite of capabilities on the Google Cloud with the aim of enhancing its comprehensive genomics capabilities.
Genomics/Genetic Testing
FDA authorizes, with special controls, direct-to-consumer test that reports three mutations in the BRCA breast cancer genes
The test only reports 3 out of more than 1,000 known BRCA mutations and a negative result doesn’t rule out increased cancer risk. The FDA granted the marketing authorization to 23andMe.
Opinion: No, FDA Didn’t Really Approve 23andMe’s BRCA Test
Rather, the breast cancer mutation screen was classified as a type of medical device with obligations for the company to reduce risks to customers.
How Did 23andMe Stumble in Its Early Days?
Linda Avey, co-founder of 23andMe, discusses the early days.
Blueprint Genetics is setting a new standard for quality with the introduction of new and improved panels
A total of 157 panels have been updated and 21 new panels launched.
Intermountain Healthcare to build global DNA registry with 23andMe, AncestryDNA data
The project, dubbed the GeneRosity Registry and funded by the Intermountain Research and Medical Foundation, will compile data from adults who have already purchased direct-to-consumer genetic tests from commercial sites like AncestryDNA, MyHeritage or 23andMe. These participants will have the option to voluntarily upload raw and unprocessed genetic test results to the project’s website.
The government wants to free your health data. Will that unleash innovation?
CMS is seeking to open the data floodgates. The agency wants to put patients in charge of their information instead of the hospitals and insurers that collect it and keep it locked within their own systems. And it wants to do so explicitly to help app and device makers gain access to high-quality data.
Some breast cancer patients are missing out on genetic counseling
Nearly half of newly diagnosed breast cancer patients who should be recommended for genetic testing did not get it. A quarter of these patients were not counseled about their potential risk, a new study finds.
Tech’s Next Big Wave: Big Data Meets Biology
What’s driving this frenzy of health care–related dealmaking? It’s data.
CMS finalizes coverage of DNA sequencing for cancer patients
How Geisinger Is Using Gene Screening to Prevent Disease
Consumer interest in genetic testing is exploding. Are providers ready?
New computational method helps to identify tumor cell mutations with greater accuracy
NGS
Google Partnership With WuXi NextCODE to Bring Sequencing to the Cloud
Partnership aims to enhance its comprehensive genomics capabilities – this will include hosting WuXi NextCODE’s core suite of capabilities on Google Cloud and its availability on the Google Cloud Launcher marketplace.
Pacific Biosciences Announces Issuance of U.S. Patent for Concatemer Sequencing
Covers novel methods for single molecule sequencing of concatemers having complementary sense and antisense regions of a nucleic acid sample, including such concatemers generated from a rolling circle amplification reaction.
Edico Genome Announces Flagship Global Distribution Partnership Program
Initiative facilitates expansion of DRAGEN, enabling global markets to better access rapid, accurate and cost-effective genomic analysis.
Fast genome tests are diagnosing some of the sickest babies in time to save them
Rapid DNA sequencing is helping doctors treat critically ill infants in days rather than weeks.
High-throughput sequencing: DFG establishes four competence centres
German Research Foundation spends €14 million ($17.3 million) over three years.
The Hidden Costs of “Free” Genetic Counseling
Illumina Sues Natera for NIPT Patent Infringement
Artificial Intelligence (AI)
Why Big Pharma and biotech are betting big on AI
AI could drastically reduce the time it takes to develop new life-saving drugs.
Former Google CEO says artificial intelligence won’t replace your doctor
Eric Schmidt doesn’t think that doctors will be replaced by computers, and stressed that he’d want a human calling the shots but supported by technology.
Tech’s Next Big Wave: Big Data Meets Biology
Big data is thriving the frenzy of healthcare. More specifically, it’s your data: your individual biology, your health history and ever-fluctuating state of well-being, where you go, what you spend, how you sleep, what you put in your body and what comes out.
Blockchain
Top 12 Companies Bringing Blockchain To Healthcare
Security, trust, traceability, and control – these are the promises of the blockchain, the technology with the most potential in healthcare at the moment. As these are highly attractive traits for storing sensitive health data or for the operation of supply chains, many companies aim to leverage its powers for healthcare.
Precision Medicine
Finland’s FinnGenproject aims to match genome information with over 500,000 blood samples.
It will be the largest study of its type. At the helm is Aarno Palotie who spoke to PMF editor Mark Glover about his hopes for the ambitious project, the EU’s Privacy Act and the importance of collaboration.
Beyond Flatiron: The Rising Power Of Oncology Clinical Data Companies
What role will emerging oncology clinical data companies soon be and what are the implications of the rise of these types of companies – for both pharma and for healthcare?
The Struggle to Build a Massive ‘Biobank’ of Patient Data
This spring, the NIH will start recruiting participants for one of the most ambitious medical projects ever envisioned.
Israel launches $60m initiative to boost tailor-made meds
Miscellaneous
Google signed a key deal with a $9.5 billion device maker to save healthcare from a ‘world of ignorance’
Google has teamed up with Flex. Flex is using the Google Cloud technology to build Bright Insight.
Digital R&D, Transforming the future of clinical development
A Deloitte report which offers guidance for the FDA’s upcoming software regulation pathway.
Theranos CEO Holmes and former president Balwani charged with massive fraud
Elizabeth Holmes, founder of embattled blood testing start-up Theranos, has been charged with “massive fraud.”
Experts warn DNA testing kits could put your genetic information in the wrong hands
Currently, there are anti-discrimination laws that protect you by limiting what your health insurer or employer can learn about your DNA, but those laws don’t apply to life insurance, disability or long-term care insurance companies.
With Medicare Support, Genetic Cancer Testing Goes Mainstream
Google Cloud for Healthcare: new APIs, customers, partners and security updates
ASCO Names CAR T-Cell Immunotherapy 2018 Advance of the Year
Publications
The VAAST Variant Prioritizer (VVP): ultrafast, easy to use whole genome variant prioritization tool
RNA-based therapy cures lung cancer in mouse models
Crowdsourced family tree yields new insights about humanity
A FAIR guide for data providers to maximise sharing of human genomic data
Highly parallel direct RNA sequencing on an array of nanopores
Microbiota-gut-brain axis is at epicenter of new approach to mental health
The landscape of genomic alterations across childhood cancers
Exponential scaling of single-cell RNA-seq in the past decade
Funding
Helix Announces First Close of $200 Million in Financing to Drive Innovation in Personal Genomics
AstraZeneca spins out 6 drugs and an R&D group into Viela Bio, which emerges with a pivotal program and $250M
Oxford Nanopore announces £100 million ($140M) fundraising from global investors
Tempus Raises $80M in New Funding
News for the month of February 2018
Blockchain was center stage this February. Numerous new companies like Nebula Genomics (the latest brainchild of George Church), EncrypGen, Luna DNA, and Zenome are building platforms where individuals can sell their genetic information in return of cryptocurrency. Genomic data and transaction records will be secured by a blockchain, the same technology behind cryptocurrencies like Bitcoin.
Blockchain
This new company wants to sequence your genome and let you share it on a blockchain
People will be able to earn cryptocurrency in exchange for letting pharma companies use their data.
How can I make money from my DNA?
A Q&A with Prof George Church – If you have your DNA sequenced, someone somewhere will be making money from the data. A new start-up aims to make sure that you get your share.
Disruption by Blockchain
A Q&A with David Koepsell, CEO of EncrypGen.
Artificial Intelligence (AI)
AI adoption rate picking up and radiologists are paying attention to workflow, career impact
Some are skeptical, but big majorities say machine learning could dramatically transform their line of work, according to new research.
A Statistical Search for Genomic Truths
The computer scientist Barbara Engelhardt develops machine-learning models and methods to scour human genomes for the elusive causes and mechanisms of disease.
Artificial Intelligence Can Support Killer Viruses in the War Against Superbugs
The World Health Organization has deemed antibiotic-resistant bacteria to be one of the most pressing global health concerns today. Time is key for developing new treatments, but we have some unlikely allies in the fight.
Genomics/Genetic Testing
Ambry Genetics and Invicro Announce Partnership to Provide Enhanced Capabilities with Advanced Genomics Services to Enable Precision Medicine
Both Invicro and Ambry were recently acquired by Konica Minolta.
Sophia Genetics Announces Genomic Test for Leukemia Detection
The newly announced capture-based myeloid clinical solution receives the CE-IVD mark.
Sema4 Launches Supplemental Newborn Screening Test for 190+ Childhood-Onset Diseases
A New Regulatory Threat to Cancer Patients
Washington may impose needless limits on genetic testing. The proposed new CMS policy would abruptly change the way NGS testing is regulated and administered.
Precision Medicine
A little-known technology that Fitbit and Apple are exploring could be the answer to healthy eating and peak performance
A San Francisco startup called Sano is designing a device that would make tracking our glucose as easy as reading the news or scrolling through Instagram.
Personalized Medicine Approvals Continued to Surge in 2017
The FDA approved 16 new personalized treatments in 2017 alone compared with a decade ago when these drugs only accounted for less than 10% of approvals.
InterSystems teams with Edico Genome for precision medicine workflows
The new partnership aims to enable integration of genomic data across the EHR, making it easier for physicians to order specific tests for personalized medicine.
As Genomics Matures, Funding Priorities Will Shift
Going forward the NHGRI will focus on categories where it has a unique role to play. Technology development, for instance, will continue to be important. All priorities will fit within the institute’s mandate to improve human health.
NGS
Twist Bioscience Launches Exome and Custom Target Enrichment Solutions for Genomics and Clinical Researchers Conducting Next-Generation Sequencing
New Product Line Leverages Established DNA Synthesis Platform to Revolutionize Exome and Custom Sequencing.
Fact, not fiction: Why the American public needs to better understand genetic sequencing
The distrust in genetic sequencing and medical testing is rampant, and we have a few factors to thank for that. Since we’re in the early stages of genomic medicine there is a certain sense of skepticism.
DNAnexus Launches NGS Clinical Trial Solution
The new Clinical Trial Solution’s (CTS) purpose is to streamline the use of next-generation sequencing (NGS) data in regulated clinical trials.
10x Genomics Announces New Partnership Programs
The global partnership ecosystem’s purpose is to accelerate customer adoption of 10x Genomics’ sequencing applications through the Certified Service Provider and 10x Compatible Programs.
In our genes: How Google Cloud helps the Broad Institute slash the cost of research
A blog post by Jonathan Sheffi, Product Manager, Genomics & Life Sciences, Google Cloud.
DIY DNA sequencing for $2 a gene
A new sequencing methodology based on DropSynth was developed by researchers at UCLA.
State of Sequencing 2018 – Mendelspod Podcast
Keith Robison, Omics! Omics! blogger discusses the Illumina iSeq System, PacBio, and how close Oxford Nanopore is on PacBio’s heels.
GenomeNext Embeds Genomenon’s Mastermind Search in Olympus Platform
The integration complements GenomeNext’s bioinformatic analysis pipelines with accelerated and automated variant curation for clinical genomic interpretation.
Miscellaneous
Apple is launching medical clinics to deliver the ‘world’s best health care experience’ to its employees
The AC Wellness clinics for employees are designed to create a program to promote healthy behavior.
Google sister-company Verily is plotting a move into a fast-growing corner of the health insurance industry
The company is hiring health insurance experts and has been talking about bidding for state Medicaid contracts.
Global Alliance for Genomics & Health Launches Roadmap
The ambitious GA4GH Strategic Roadmap includes the first 28 standards and frameworks to be developed as the organization focuses on aligning with the key needs of the international genomic data community. The roadmap includes deliverables planned across the eight GA4GH work streams focused on the areas of Clinical & Phenotypic Data Capture, Cloud, Data Use & Researcher Identities, Data Security, Discovery, Genomic Knowledge Standards, Large Scale Genomics, and Regulatory & Ethics.
PNAS Podcast on Big Data
Atul Butte explains how researchers can use existing data to answer biomedical questions.
CRISPR
Target, delete, repair
CRISPR is a revolutionary gene-editing tool, but it’s not without risk.
Publications
Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices
Multiplexed gene synthesis in emulsions for exploring protein functional landscapes
Integrative omics for health and disease
Reducing Overtreatment of Cancer With Precision Medicine Just What the Doctor Ordered
Smoking gun for a Rare Mutation Mechanism
Funding
Viela Bio, an AstraZeneca spinout, put together a $250 million series A round and a management team from its parent company – AstraZeneca has carved off six inflammation and autoimmune assets to create the new biotech – to guide the mix of clinical and preclinical programs forward.
Boost Biomes closes $2.05M seed round to develop microbiome-based products
CRISPR Startup Inscripta Raises $55.5M in Series C
Mergers & Acquisitions
Perkin Elmer acquires single-cell genomics company RHS
News for the month of January 2018
The first month of 2018 already was for sure rich in content and activities: It started out with a series of announcements emerging the JP Morgan Healthcare Conference with Illumina announcing their latest sequencer, the iSeq 100 desktop sequencer, followed by news that included the cloning of two monkeys in China using the same technique as was used at the time for Dolly the sheep, and the sequencing and mapping of the most complete human genome using the Oxford Nanopores MinION device. The combination of the flurry of activities in January being an early sign that 2018 will bring lots of exciting and new developments in healthcare and life science research and applications.
Artificial Intelligence (AI)
What if an algorithm could predict death?
The “dying algorithm,” as we might call it, digested and absorbed information from nearly 160,000 patients to train itself. Once it had ingested all the data, it was tested on the remaining 40,000 patients. The algorithm performed surprisingly well.
Microsoft and Adaptive Biotechnologies are using AI to decode the immune system
The companies hope to pair advances in AI and machine learning with recent breakthroughs in biotechnology to map out the immune system and tap into the body’s impressive diagnostic system.
Artificial Intelligence: Implementing a Vision for Precision Medicine and Health
A team involving researchers from the Nutritional Immunology and Molecular Medicine Laboratory at Virginia Tech and the Biomedical and Translational Informatics (BTI) Institute at Geisinger Health System are working together to advance precision medicine by integrating clinical data, artificial intelligence (AI) systems, and advanced machine-learning (ML) methods.
Precision Medicine
Illumina and KingMed Diagnostics Partner to Develop Next-Generation Sequencing Technology for Chinese FDA Approval
Companies will jointly develop novel oncology and hereditary disease testing applications utilizing Illumina’s NGS technology.
Genomics England Adopts Edico Genome’s DRAGEN Bio-IT
The partnership will support Genomics England in making NGS the standard of care across the U.K.’s National Health Service (NHS) in 2018.
Illumina Remains NGS Leader But Competitors Expected to Gain, Survey Finds
The survey was conducted in the first half of December 2017 with a subset of GenomeWeb subscribers, targeting a variety of organizations and excluding instrument manufacturers/vendors, management consultants/venture capital/law firms, and public relations/advertising firms. Overall, 303 readers provided answers to at least a subset of the questions.
Spark Therapeutics Sets Price Of Blindness-Treating Gene Therapy At $850,000
A new drug, Luxturna, literally allows blind people to see. It does it by using a virus to insert new genes into patients’ eyes. The cost for Luxturna is $425,000 per eye, or $850,000 for most patients.
Drug Company Consortium To Sequence The Genes Of 500,000 Britons Over Next Two Years
Regeneron will handle the sequencing, and AbbVie, Alnylam Pharmaceuticals, AstraZeneca, Biogen, and Pfizer will all contribute $10 million each to create the genetic data, which the pharmaceutical firms will have access to for a year before they make it available for free to any researcher who wants it.
WuXi NextCODE Artificial Intelligence Used to Advance Precision Therapy for Rare Genetic Disorders of Obesity
A partnership with Rhythm Pharmaceuticals, a biopharmaceutical company aimed at developing and commercializing therapies for the treatment of rare genetic disorders of obesity, under which Rhythm is applying WuXi NextCODE’s proprietary deep learning capabilities to identify key genetic markers for rare metabolic syndromes.
The Promise of Precision Medicine, a Panel Discussion at the World Economic Forum (WEF)
Panel includes FDA commissioner Scott Gottlieb, Illumina’s Jay Flately, Nancy Brown (American Heart Association), V. Narasimhan designated CEO of Novartis, and Minister of Health in Singapor Tan Chorh Chan.
JP Morgan 2018 Healthcare Conference
Illumina Announces iSeq 100
Illumina unveils the $20,000 Desktop Sequencer aimed at sequencing germs.
At JP Morgan 2018: A Sense That The Long-Promised Biotech Future Has Arrived; Is Tech Disruption Next?
An opinion piece by David Shaywitz.
Genomic/Genetic Testing
Invitae more than doubles annual volume, exceeds full-year 2017 guidance, and projects momentum to continue in 2018
127% year-over-year growth, 136% growth in revenue, and for 2018: anticipates accessioning at least 250K samples and generating at least $120M in revenue.
NGS
Scientists use pocket-size device MinION, made by Oxford Nanopore Technologie, to map human genetic code
Scientists have assembled the most complete human genome to be mapped with a single technology using the pocket-size portable DNA sequencer MinION.
Broad Institute release beta of a new version of the gnomAD browser
They are looking for test users to check their favorite genes and provide feedback on the new features.
Pharma Industry
Celgene to buy Impact Biomedicines for as much as $7 billion
U.S. pharma executives expect deals to pick up after tax overhaul
The Pharma Exec behind the First Approved Gene Therapy Is Hunting for His Next Big Break
Novartis’s retiring CEO hopes such treatments will soon be deployed against lymphoma and other cancers.
Microbiome
No Guts, No Glory: How Microbiome Research is Changing Medicine
Experts think the microbiome could be the key to treat all sorts of diseases. But how can we make these microorganisms collaborate with us?
Publications
Cost-effectiveness analyses of genetic and genomic diagnostic tests
ChromatinRemodeling Mutations Linked to Immunotherapy Response
Human microbiota, blood group antigens, and disease
These monkey twins are the first primate clones made by the method that developed Dolly
Liquid biopsy’ promises early detection for cancer
Miscellaneous
BGI Genomics Purchases 10 PacBio Sequel Systems
The Sequel System will allow BGI to meet the growing demand for SMRT Sequencing services for bacterial, plant, and animal de novo, transcriptomics, and epigenomics sequencing, and also in fields outside of agriculture, such as in conservation biology. Currently BGI has two Sequel Systems and an RS II Sequencing System.
Yes, They’ve Cloned Monkeys in China. That Doesn’t Mean You’re Next.
This is the first time that primates have been cloned with the same technique that produced Dolly the sheep more than 20 years ago.
Amazon’s moves in health care over the last year are finally starting to make sense
Amazon announced a partnership with Berkshire Hathaway and J.P. Morgan Chase to improve health care for employees of the three companies in the United States.
2017: The year cell and gene therapies came of age
2017 was a turning point for cell and gene therapies. The year saw three regulatory approvals, 850 companies focused on this space, and 946 clinical trials underway globally. Financings jumped from USD 4.2 billion in 2016 to USD 7.5 billion in 2017. Mergers and acquisitions also grew from USD 1.053 million in 2016 to USD 13,539 million in 2017.
Would You Sell Your DNA For Cryptocurrency?
A new startup, EncrypGen, wants to help people to sell their genetic code.
Funding
Stratos Genomics raises $20M to commercialize fast DNA sequencing technology
DNAnexus raises $58 Million in Series E to accelerate expansion
This in-demand AI genius just got $175 million from Silicon Valley’s biggest investors
