Find here a listing of the latest industry news in genomics, genetics, precision medicine, and beyond. Updates are provided on a monthly basis.
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News for the month of 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 FinnGen project 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
Digital health investments reached record level in 2017
News for the month of December 2017
What a year! As we wrapped-up 2017, December’s precision medicine and artificial intelligence news remained impressive. The FDA approved the first gene therapy for an inherited disease – Spark Therapeutics makes Luxturna, the new treatment for childhood-blindness that is injected into the eye to repair a defective RPE65 gene. Also noteworthy in December was the release of Google’s DeepVariant tool. It is available on the Google Cloud Platform and uses the latest AI technology to analyze human genome data.
2017 was a stellar year for life science and we can’t wait to share with you what news 2018 brings!
Precision Medicine
UW, Seattle Children’s, and Fred Hutch launch $50M Institute for Precision Medicine, Using Genetics to Revolutionize Health
Co-founder Jeff Brotman & others donate $50M and launch “The Brotman Baty Institute for Precision Medicine” in Seattle.
BGI & Sanguine Join Forces to Increase Speed and Efficiency of Precision Clinical Trial Recruitment
The combined offering will allow drug developers to significantly increase the homogeneity of their trial cohorts, reducing risk and cost and increasing the likelihood of success.
Will Europe Turn a Corner in Personalized Medicine?
A massive improvement in the health of Europe’s citizens is within reach with the European Alliance for Personalized Medicine (EAPM). The European Personalized Medicine Association is planning to fund scholarships in education and training of future healthcare professionals with a focus of using diagnostics and patient engagement and empowerment centered on personalized medicine
A Research Project That Will Match Genome Information with 500,000 Blood Samples Has Been Launched in Finland
New Finnish genomics study is a first of its kind and scale.
First Gene Therapy For Inherited Disease Gets FDA Approval
This Food and Drug Administration approved Luxturna, a gene therapy developed by Spark Therapeutics, to treat an inherited form of blindness.
Artificial Intelligence (AI)
Google Released a New AI Tool, Called DeepVariant, That Makes Sense of Your Genome
New genetic sequence AI tool available on Google Cloud.
Zebra Medical Vision Offers $1 AI Medical Scans on Google Cloud
Zebra Medical Vision creates AI algorithms that can read medical images and detect anything untoward before humans.
Using AI To Make Sense Of The Human Genome
Google is tackling head-on the challenge of developing a better understanding of our genome via a new tool, called DeepVariant. It utilizes AI and aims to autonomously mutations in the sequencing data, and especially to distinguish them from random errors.
Genetic Programmers Are the Next Startup Millionaires
The big-ticket acquisition of genetic design company Cell Design Labs signals a coming wave of precision cures.
Tempus Unveils a Standalone Tool for Structuring Clinical Data at Scale
The two-year-old company recently began offering an operating system, dubbed Tempus O, designed to structure, cleanse, and annotate clinical data.
What Can Machine Learning Do? Workforce Implications
A review of AI’s economic impact.
Microsoft’s AI Chief Says the Technology Isn’t the Biggest Hurdle
AI is improving tech products — the real challenge is making sure it does so in a way that people trust.
Genomics/Genetic Testing
Biocartis and Amgen Sign CDx Development Agreement for Biomarker Tests
The aim of this agreement is to register the biomarker tests with the US Food and Drug Administration (FDA) as a companion diagnostic test for Amgen’s drug Vectibix (panitumumab).
ASCO Forms Collaboration with Two Big Data Firms to Grow CancerLinQ
The 10-year collaboration gives Tempus and PH.AI access to de-identified data of more than a 1M records in CancerLinQ.
New Genome Scores Predict Breast Cancer Odds for Any Woman
Drawing on giant population studies, the diagnostics company Myriad Genetics introduces a novel type of DNA test to predict cancer.
Agendia and Bluebee Partner to Bring New NGS-Based MammaPrint® BluePrint® Breast Cancer Kit to Market
The partnership with Bluebee enables secure global access to test results, while ensuring all data complies with local data privacy and residency regulations.
Immunotherapy
A Q&A with Vas Narashimhan Head of Global Drug Development and Chief Medical Officer at Novartis with Matthew Herper
How Novartis is using digital technologies and data to become a Drug & Data company, justifying the high cost of CAR-T treatments and other treatments.
Juno Therapeutics and Thermo Fisher Scientific Announce CAR T Manufacturing Partnership
Seven-year non-exclusive licensing and supply agreement.
NGS
Edico Genome’s DRAGEN Solution For Secondary Analysis Of Genomic Data Now Available via Seven Bridges
Edico Genome’s DRAGEN Germline V2, DRAGEN Somatic V2 and DRAGEN RNA Gene Fusion Detection Pipelines are now live on the Seven Bridges platform, enabling customers to leverage DRAGEN’s ultra-rapid speeds and accuracy.
CRISPR-Cas9
With No Cure in Sight, CRISPR Could Offer Hope for Lou Gehrig’s Disease
Berkeley researchers aimed to knock out the mutant SOD1 gene in mice with ALS using the gene-editing tool CRISPR/Cas9.
CRISPR Might Be Able to Cure Disease, Without Changing Genes
CRISPR used not to edit genes, but to turn genes on off and on instead.
CRISPR in 2018: Coming to a Human Near You
Patients in Europe and the U.S. could be treated with CRISPR-based therapies as soon as 2018 – the first clinical trials are slated to begin.
Publications
In Vivo Target Gene Activation via CRISPR/Cas9-Mediated Trans-epigenetic Modulation
A Living Biobank of Breast Cancer Organoids Captures Disease Heterogeneity
The whole-genome panorama of cancer drivers
It’s My Heart. Why is it Not my Data?
A High-resolution Map of the Human Small Non-coding Transcriptome
Miscellaneous
List of this Year’s Breakthrough Prize Winners
Includes biologists Joanne Chory, Don Cleveland, Kim Nasmyth, Katzutoshi Mori, and Peter Wlater.
Gene-based Zika Vaccine is Safe and Immunogenic in Healthy Adults
Vaccine developed by NIH scientists shows promise in Phase 1 testing.
CVS Health to Buy Aetna for Around $69 Billion
CVS Health and Aetna have merged in a bid to reinvent health care with a vertically integrated stack of services and touch points. And now comes the hard part: Using data and analytics to really make it all work.
Is it Time to Retire Cholesterol Tests?
Rather a truer indicator of the threat to our arteries than absolute cholesterol levels, some researchers believe, is routine apoB tests.
Amazon is in exploratory talks with generic-drug makers
Amazon has talked to makers of generic drugs, including Mylan and Sandoz, about a potential entry into the pharmacy space.
Health Systems’ IT Priorities for 2018: Cybersecurity Technologies, Patient-Generated Data
The Pittsburgh-based Center for Connected Medicine surveyed IT leaders at more than 20 major U.S. health systems and found that 92% plan to increase spending technology to improve cybersecurity next year.
Podcasts For Health Entrepreneurs
Includes Mendelspod, A Healthy Dose by Oxeon Partners and Bessemer VP, The Long Run by Luke Timmerman, and more.
The Most Life-Changing Breakthroughs in Genetics of 2017
CAR T cell therapy, CRISPR-Cas9 genome editing, FDA approved the first consumer DNA tests for disease risk, and more.
FDA Publishes Draft Guidance on Investigational IVDs Used in Therapeutic Product Clinical Trials
The draft guidance is intended to inform both product sponsors and IRBs regarding the application of the Investigational Device Exemption (IDE) regulation to investigational in vitro diagnostic devices (IVDs) used in therapeutic product clinical trials.
Mergers and Acquisitions
Unstoppable Gilead Takes Out Bay Area CAR-T Biotech in $567M Deal
Gilead and its subsidiary, Kite Pharma, are buying Cell Design Laboratories.
Funding
Camden Partners Closes Biomedical Technology-focused Venture Capital Fund
News for the month of November 2017
Precision Medicine was center stage this November. Geisinger Medical Center is testing whether DNA sequencing can be the new routine for standard of care to US patients. In China, one million residents of the city of Nanjing will take part in a project to sequence their genomes. A massive data storage facility is being built and researchers believe the population genetics project will result in improved disease diagnosis and treatment.
Precision Medicine
Fighting Cancer One Patient At a Time
What drives drug companies to invest in markets of just a few thousand people?
Two Top Ex-Google Scientists Have Left Grail, a $1 Billion Cancer Startup
The departures come after Grail’s CEO Jeff Huber and lead scientist stepped down.
Precision Medicine: How an Evolving Definition has Helped Advance Clinical Accuracy
The term precision medicine has solidified itself as the critical descriptive concept of medicines’ future, although history tells it is hardly set in stone.
Geisinger Begins Returning Clinically Actionable Exome Sequencing Results to Patients
In an attempt to figure out how to best implement clinical sequencing within a health system, Geisinger Health System has begun returning clinically actionable results in a set of genes to patients enrolled in the MyCode Community Health Initiative.
More than 500 Geisinger MyCode participants receive clinical results from exome sequencing; most risks previously unknown
Geisinger is reaching more than 500 of its patients with clinical genetic risks through the MyCode Community Health Initiative (MyCode).
A Chinese Province Is Sequencing One Million of Its Residents’ Genomes
This project is an effort to identify population trends and the genetic basis of health disorders.
Genetics, Genomics, and Big Data in Medicine with Eric Schadt
Hidden Forces podcast exploring the information technology of biology: DNA. In other words, we explore the world of genomics. This is where big data looms large.
Precision’ Prevails Over ‘Personalized’ Medicine in New ESMO Glossary
European Society for Medical Oncology (ESMO) published a glossary designed to standardize the language in the field of Precision Medicine, and thus improve communication between oncologists, researchers and patients.
Blockchain Beyond EHRs: Transforming Value-Based Payment, Precision Medicine, Patient-Centric Care
The considerable hype around blockchain is starting to be tempered by enterprises earning practical experience and identifying worthwhile use cases for the technology.
How Pharmaceutical Firms Can Shape the Future of Healthcare
A pwc report on capitalizing on precision medicine.
Artificial Intelligence (AI)
Can AI Keep You Healthy?
A Chinese entrepreneur wants to track your health data and suggest ways to improve. But are computers really smart enough to make sense of all that information?
Tedtalk: Not What but Why: Machine Learning for Understanding Genomics by Barbara Engelhardt
Why AI and Machine Learning are the right tools to solve the problems of genomics.
As the Physician Shortage Grows, Healthcare Embraces AI Technology
By 2025, the Association of American Medical Colleges predicts the shortage of physicians in the U.S. will reach an estimated 34,600 to 88,000 doctors.
Google’s New Accelerator Focuses on AI Health Startups
The scheme is aimed at fostering startup enterprises that are set to introduce technological solutions for healthcare.
How Machine Learning, Big Data, and AI Are Changing Healthcare Forever
Machine learning is improving diagnostics, predicting outcomes, and just beginning to scratch the surface of personalized care.
Genomics/Genetic Testing
Statement From FDA Commissioner Scott Gottlieb on Implementation of Agency’s Streamlined Development and Review Pathway for Consumer Tests That Evaluate Genetic Health Risks
Eases regulatory path -> the agency issued a notice of its intent to allow genetic health risk (GHR) tests to be exempted from premarket review under certain conditions.
Politically Connected Cancer Mogul Faces Questions Over His Genetic Tests
Patrick Soon-Shiong touted sales of his closely scrutinized test without revealing the purchaser was on his payroll.
Genomenon Announces First Automated, Evidence-Based Blood Cancer Panel
This new cancer panel was produced using automated machine learning techniques that mine proven disease-gene associations from millions of scientific articles.
What You Need to Know About FDA Oversight of Genomics Research
To raise awareness of the IDE regulation, ASHG hosted a policy luncheon at ASHG 2017.
FDA Opens the Doors for Consumer Genetic Testing
While this is a big step forward for consumers eager to be more engaged in managing their own health, there are reasons to keep a healthy dose of caution on hand.
NGS
Seven Bridges Leads Public-Private Partnership to Develop New Data Ecosystem for NIH
Seven Bridges will lead a team consisting of Repositive Ltd., a UK-based software company developing tools to improve access to genomic research data; Elsevier, the informatics analytics business specializing in science and health; and the Boston Veterans Affair Research Institute, which has created the Million Veteran Program, the largest genomic database in the world. Together, they are forming a private-public consortium called FAIR4CURES.
Illumina NovSeq Site List
List of Illumina NovaSeq sites based on news stories, press releases and tweets is at 45 and counting.
Cloud Computing
IBM Eases Out Bluemix Name, Rebrands All as IBM Cloud
There will be no changes to products offering as a result of this rebranding strategy.
Alibaba Says Cloud Sales Increased 99 Percent in ‘Outstanding’ Quarter
An increase to $447 million for the quarter.
CRISPR Technology
Scientists Have Used Cells as a Recording Device for the First Time
Via Temporal Recording Arrays by CRISPR Expansion (TRACE), the researchers programmed the cells to respond to a biological input by increasing or decreasing the amount of a certain piece of DNA.
Miscellaneous
Caris Life Sciences Files Patent Infringement Suit vs. Foundation Medicine
At issue are five Caris patents covering the company’s system of performing molecular profiling of tumors to identify treatment options based on groups of molecular targets not traditionally or conventionally associated with various types of cancer.
Is it time to say goodbye to ClinicalTrials.Gov?
Sean Parker: “ClinicalTrials.gov is it totally unbiased, and it is just a directory. A lot of those clinical trials are somewhere between useless and harmful. So, it is very difficult to know anything about whether you should enroll in a trial.”
A Data-Backed Look Into Silicon Valley’s Gender Equality Problem
23andMe is the most gender-balanced office with ~50% female, all other companies employ more men than women.
Singapore Wants To Add Biotech Hub To Its List Of Accomplishments
Singapore is banking on lucrative medical and pharmaceutical patents to be a new economic growth engine in the 21st century.
Publications
Universal Patterns of Selection in Cancer and Somatic Tissues
Humans Are Still Evolving — And We Can Watch it Happen
Gene Expression Map of Human Body Gives Value to Variants
The Most Popular Genes in the Human Genome
Funding
2017 is a Record Year for VC Funding in Biotech, Genetics
These 10 Companies Received 38% of Digital Health Investment Funding in 2016
Syapse Raises $30M in Series D to Scale its Precision Medicine Program
Genialis Raises $2.3M Seed Round to Advance Visual Exploration of Genomics Data
News for the month of October 2017
Thanks to a momentous ASHG 2017 next-generation sequencing (NGS) announcements in the areas of data analysis and clinical sequencing were the highlights of October. Coinciding with the event, Edico Genome and Fabric Genomics announced their partnership for a genomics analysis solution, WuXi NextCODE shared news that Oxford Nanopore will be available in its Shanghai Laboratory, while Bluebee launched a PacBio de novo genome assembly pipeline. In clinical NGS, Rady Children’s Hospital introduced NovaSeq to speed up the time-to-result and reduce costs for their critically-ill infants. Read more ASHG related news and watch the Bill Gates & Francis Collins ASHG symposium discussing global health and genomics.
NGS
Rady Children’s Hospital introduces NovaSeq for newborn diagnoses
Rady Children’s Hospital is moving from the HiSeq 2500 to NovaSeq for whole genome sequencing (WGS) on NICU newborns and their parents to speed up time-to-diagnosis and reduce sequencing costs.
Exome sequencing improved Dx in critically ill babies
Genetic disorders due to a single gene mutation were identified in a little over a third of critically ill infants who had a portion of their DNA sequenced, a small retrospective study found.
Edico Genome and Fabric Genomics develop integrated solution for genomics analysis
Through this partnership, users can seamlessly utilize Edico Genome’s DRAGEN™ Bio-IT platform with Fabric Genomics’ Opal™ Clinical Variant Interpretation Platform.
PacBio and Bluebee launch de novo genome assembly pipeline on the Bluebee Analysis Platform
The integrated PacBio® de novo assembly pipeline onto the Bluebee® genomics analysis platform creates a simplified and fully automated end-to-end data analysis solution.
Illumina keeps up its winning ways thanks to NovaSeq sales growth
Illumina yet again delivered a strong quarter – highlights of the third-quarter results.
The future of DNA sequencing will be in the palm of your hand
An article by Kevin Davis discussing Illumina’s $1,000 dollar genome, Oxford Nanopore’s minION, and more.
WuXi NextCODE integrates Oxford Nanopore into the Global Platform for Genomic Data
WuXi NextCODE brought Oxford Nanopore Technologies’ sequencing technology into its Shanghai Laboratory, making it initially available to customers in China. The company’s Shanghai laboratory, which is CLIA-certified and CAP-accredited, already has a number of sequencing instruments available, including platforms from Illumina, Thermo Fisher Scientific, and Pacific Biosciences.
Genomenon announces free Mastermind Genomic Search Engine
Mastermind provides a web-based search on a full complement of medical literature comprising over 5.5 million full-text genomic articles cataloging the genetic relationships to human diseases including cancer.
iGenomX Launches Riptide™ High Throughput NGS Rapid Library Prep
Qiagen, Centogene collaborate in bioinformatics for genetic diseases
The Jackson Laboratory and Seven Bridges Collaborate to Build Centralized Data Platform to Advance Cancer ResearchNational Cancer Institute awards $2M grant to fund joint PDX data center to data platform to accelerate translational research using patient-derived tumor xenograft (PDX) datasets.
OnRamp reveals Rosalind™ Platform: a data analysis and interpretation platform
Illumina Releases NovaSeq S4 Flow Cell and NovaSeq Xp Workflow
Artificial Intelligence (AI)
When two worlds collide — big pharma meets big tech
Is the traditional pharma industry about to undergo a “huge disruption?”
Why and how Amazon will disrupt and dominate health care in 2025 – Will Amazon buy Roche?
Thomas Wilckens shares his vision of healthcare and medicine in 2025. He suggests that customer & patient experiences will change dramatically due to AI, IoT, and cloud-driven disruption.
Inside Perspectives: NuMedii banking on artificial intelligence to expedite the discovery of effective new medicines
The company has efficiently extracted information from a vast array of disparate data stores to create a structured, proprietary data resource spanning hundreds of diseases and thousands of compounds.
How Artificial Intelligence is Revolutionizing Personalized Medicine
There Is No Precision Medicine Without Artificial Intelligence
The Seven Deadly Sins of AI Predictions
Mistaken extrapolations, limited imagination, and other common mistakes that distract us from thinking more productively about the future.
Precision Medicine
Q & A with Dr. Peggy Porter: Targeted breast cancer treatments require diverse research data
Breast cancer researcher discusses need to extend research and results to minority women.
4 trends in digital health to keep an eye on In 2018: digital health interventions, provider-centric solutions, big data and analytics, and new model insurance companies.
Academia dives into precision medicine, big data collaborations
University of Michigan launches campus-wide precision medicine initiative.
Physicians feel sidelined in value-based care discussion
But, doctors who feel included in the decision-making process are more likely to embrace change.
New study assesses precision medicine
This study points out that next-generation sequencing will play a large role in personalized medicine.
The Dish: Sharing your electronic health record (EHR) in respect to the all of us research program
Eric Dishman, Director of the All of Us Research Program, talks about what information is in EHRs and why these records are so important to the All of Us program.
Bending the Cost and Time Curve of Drug Development through the Use of Biomarkers
Study finds ‘Precision Medicine’ may not always be so precise
The Importance Of Data Governance In The Future Of Healthcare
5 New Ways Health Care Providers Can Apply Individualized Medicine to Patient Care
The Promise of Precision Medicine
Putting the precise in precision medicine
Immunotherapy
New gene therapy treatment could hit $1M per patient because of additional costs
The therapy, a leukemia drug from Novartis called Kymriah, was approved in August with an eye-popping sticker price of $475,000 for a one-time treatment.
FDA approves second gene-altering treatment for cancer
The new therapy, Yescarta, made by Kite Pharma, was approved for adults with aggressive forms of a blood cancer, non-Hodgkin’s lymphoma, who have undergone two regimens of chemotherapy that failed.
Immunotherapy — Translating Research into Patient Outcomes
MD Anderson team selected for national push to expand immunotherapy
Fred Hutch Studies Advance Methods To Avert Toxicity That Can Accompany Immunotherapy
Microbiome
Breast cancer: Bacterial deficiency linked with onset
Stress caused similar changes to the gut microbiome as an unhealthy diet
Bugs picked up at birth are good for you
Miscellaneous
Broad Institute launches Merkin Institute for Transformative Technologies in Healthcare
The endeavor will fund development of technologies for diagnostics, therapeutics, and data.
Surging NYC Market Becomes Biotech Hub
NYC is in the process of undergoing a biotechnology renaissance and is quickly making a name for itself as a hub for the future development of the life sciences field.
Bill Gates & Francis Collins live symposium at ASHG – global health and genomics
The Nobel Prize in Physiology or Medicine 2017 was awarded jointly to Jeffrey C. Hall, Michael Rosbash and Michael W. Young “for their discoveries of molecular mechanisms controlling the circadian rhythm”.
Silicon Valley Is Not Your Friend
A New Drug Uses CRISPR to Fight Antibiotic-Resistant Bacteria
Thermo Fisher to Distribute Synthego Synthetic Guide RNA Products for CRISPR
EHRs are holding troves of genomic data, too bad it’s not always easily usable
How digital health can benefit medical device manufacturers
National Academy of Medicine elects 80 new members
Publications
Landscape of X chromosome inactivation across human tissues
A systematic survey of XCI, integrating over 5,500 transcriptomes from 449 individuals spanning 29 tissues and 940 single-cell transcriptomes.
Biology of childhood brain tumor subtypes offers clues to precision treatments
CHOP researchers reveal differences among gene fusions in low-grade pediatric brain tumors.
Chimeric antigen receptor T-cell therapy — assessment and management of toxicities
New imaging approach reveals lymph system in brain
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer
Mergers & Acquisitions
Who really owns Foundation Medicine?
Funding
Genetic testing startup Prenetics raises $40M in Series B from investors, including Alibaba’s Hong Kong fund
Prenetics plans to expand into more Asian countries.
Illumina Ventures closes First Venture Capital Fund at $230M
Salk Institute gets $25M grant for brain-mapping initiative
Eligo Bioscience raises $20 million to target the microbiome more precisely
News for the month of September 2017
AI and machine learning seemed on everybody’s mind during the month of September. Clearly, AI is strongly positioned as the game changer in the healthcare sector. Investments were large and manifolds with Tempus, Sophia Genetics, Deep Genomics, and the new MIT artificial intelligence lab raising big rounds. At the same time, concerns about AI’s readiness were voiced with IBM Watson being the poster child.
AGBT Precision Health hosted a worthwhile discussion on the best practices for returning genetic testing results in reports and highlighted the growing need for clinical geneticists.
Artificial Intelligence (AI)
IBM pitched its Watson supercomputer as a revolution in cancer care. It’s nowhere close
A STAT investigation has found that the supercomputer isn’t living up to the lofty expectations IBM created for it.
Former IBM Watson Health employee on AI: The truth needs to come out
A recent interview with a former IBM employee who worked in the company’s life sciences group shows that the hype of artificial intelligence’s impact on healthcare was felt internally too.
How the FDA Should Regulate Medical AI Systems
The FDA will face new challenges in vetting the efficacy of artificial intelligence, says WSJ Health Expert John Sotos.
‘AI Is the New Electricity’, Says Coursera Co-Founder, and Former Google and Baidu AI Researcher, Andrew Ng
Andrew Ng, co-founder of online learning platform Coursera, feels that his new course on deep learning could help people find their feet in a world driven by progress in AI.
New artificial intelligence based system to read medical images
An artificial intelligence based system called VoxelCloud can read medical images and provide insights to doctors for an accurate diagnosis. Systems have been developed for diagnosing lung cancer, retinal diseases, and coronary heart disease.
Scientists Construct First Predictive Model of Inflammatory Bowel Disease
Sema4 & Mount Sinai Health System applying cutting edge data science techniques towards improving our understanding of disease, and consequently our ability to treat it! Shout out to Eric Schadt and team
Eric Lefkofsky and Tempus: Using Data, Genetics and Precision Medicine Against Cancer
Genomics/Genetic Testing
This $25,000 life-extension test Is impressing investors but not doctors
For $25,000, Human Longevity will sell you a complete genome sequence, a full-body MRI scan, a cardio CT scan, bone densitometry, cognitive testing and more.
S.F. genetic company will retest 50,000 saliva samples after error creates false negatives for cancer gene
Invitae Corp. will retest thousands of samples and has thus far found two patients who had the wrong results.
Fabric Genomics and Genome Medical partner to help patients and clinicians better understand genetic results
The goal is to bring expert medical interpretation and counseling around genomic data directly to physicians and patients.
FDNA teams with genetic labs to advance genetic testing for rare diseases
Ambry Genetics, Variantyx, Fulgent, and others integrate with FDNA’s Face2Gene LABS.
Precision Medicine
University of California forms big data, precision medicine network
Five of the University of California’s precision medicine research centers have joined the new network, which will explore population health and big data analytics topics.
AGBT Precision Health panel discussion
Returning genomic test results reveals many uncertainties.
Wanted: 1 million people to study genes, habits, and health
U.S. researchers are getting ready to recruit more than 1 million people for an unprecedented study to learn how our genes, environments, and lifestyles interact.
Intermountain Precision Genomics rolls out personalized prescriptions
RxMatch, a new service for Intermountain care providers, allows physicians to use patients’ genomics to find the right antidepressant faster than using existing trial-and-error methods.
Roswell Park Cancer Institute Joins ORIEN Personalized Medicine Consortium
Roswell Park Cancer Institute has joined the Oncology Research Information Exchange Network (ORIEN), a unique research partnership among North America’s top cancer centers.
Successful EHR interoperability starts locally
Advisory Board Senior Vice President Rob Barras discusses the need for providers to start locally to spark interoperability while recognizing there’s no one-size-fits-all approach.
Genome sequencing and precision therapies are on the way to making cancer a manageable condition
It is suggested that as little as five years some of the worst cancers won’t be fatal conditions. Instead, what was once a death sentence could be treated as a chronic disease managed with personalized drugs that suppress the genetic switches that trigger it.
Personalized iPhone healthcare for the rest of us? Doctella has an app for that
Capitalizing on precision medicine: How pharmaceutical firms can shape the future of healthcare
Thermo Fisher opens precision medicine customer center in China
Immunotherapy
UCSF first in state to provide FDA-approved CAR-T for pediatric cancer patients
UCSF Benioff Children’s Hospital San Francisco certified as the first medical center to provide CAR-T therapy.
NGS
Earlham Institute presents sequence alignment using Optalysys’ Optical Correlator Computing System
The first release of the computing system is scheduled for early 2018.
Edico Genome’s DRAGEN now available on Illumina’s BaseSpace Sequence Hub
Enabling users to now run DRAGEN instances to expedite their secondary analysis of next-generation sequencing data.
PacBio sues Oxford Nanopore for alleged patent infringement
PacBio filed a lawsuit against Oxford Nanopore alleging it infringes two sequencing-related patents it holds.
Exploring the Exome and the Future of Genomics with Jay Shendure
A Mendelspod interview with Jay Shendure, Professor in the Department of Genome Sciences at the University of Washington School of Medicine
New Technology to Optimize DNA Sequencing
New technology that optimizes DNA sequencing using nanophysics and electric currents have been developed by scientists.
DNAe announces pipeline of genomic-based tests for everyday workflow of physicians and hospitals
Applications include sepsis, antibiotic resistant infections, flu and cancer
Microbiome
The metabolome: The missing link that binds the microbiome with human health
Researchers need to look at the metabolome to understand the dynamic relationship between the microbiome and the human body. Millions of previously unknown genes from microbial communities in the human gut, skin, mouth, and vaginal microbiome identified.
Human Microbiome Project: Millions of new genes identified
Millions of previously unknown genes from microbial communities in the human gut, skin, mouth, and vaginal microbiome identified.
Publications
The human microbiome: Opportunity or hype?
Going with the flow: The promise and challenge of liquid biopsies
Miscellaneous
Editorial: Taxpayers paying twice for drugs
NCI’s Douglas R. Lowy and John T. Schiller to receive 2017 Lasker Award
The two scientists will receive the 2017 Lasker Award for their significant research leading to the development of human papillomavirus (HPV) vaccines.
23andMe’s second act sits squarely in drug research and development
23andMe just raised $250M in Series F at a $1.5 billion pre-money valuation.
AACR releases 2017 cancer progress report
The AACR Cancer Progress Report 2017 provides an overview of the progress being made because of research, as well as the need for continued research innovation.
Apple is going after the healthcare industry, starting with personal health data
Apple sees healthcare and wellness as a core part of its app, services, and wearables strategies.
Funding
WuXi NextCODE completes $240 million series B financing
Gristone Oncology raises $93M in series B
23andMe is mining your DNA for the next big drug. It just raised $250 million
Sophia Genetics raises $30 million to help doctors diagnose using AI and genomic data
IBM invests $240M in new MIT artificial intelligence lab
Deep Genomics lands $13M private financing led by Silicon Valley VC firm Kholsa Ventures
Tempus raised $70M in Series C
News for the month of August 2017
Artificial Intelligence was front and center in August’s industry news. AI’s role in patient diagnosis, drug development, and clinical trials has taken off. Meanwhile, the US and China are racing to take the lead in the space.
Artificial Intelligence (AI)
AI may just be the prescription for pharmaceutical’s future
For several years now, the pharmaceutical sector has been quietly using AI and automation technologies for clinical trials, drug analysis, and to accelerate the process of launching products.
The Great US-China Biotechnology and Artificial Intelligence Race
A conversation with Eleonore Pauwels – Director of Biology Collectives and Senior Program Associate, Science and Technology Innovation Program at the Wilson Center in Washington D.C.
Want a diagnosis tomorrow, not next Year? Turn to AI
AI as the standard of care for 30M people currently uninsured or on Medicaid in the not-too-distant future.
AI-powered healthcare platform Doc.ai comes out of stealth
The company will provide patients AI-powered conversations about their healthcare.
The AI doctor will see you now
Machine learning is being used to help recognize symptoms in patients before doctors can, a potential revolution for healthcare.
AI and precision medicine to significantly impact health tech development
AI discovers potential motor neurone disease treatment
Can a Crowdsourced AI Medical Diagnosis App Outperform Your Doctor?
IBM Watson Makes a Treatment Plan for Brain-Cancer Patient in 10 Minutes; Doctors Take 160 Hours
Immunotherapy
NCI study identifies essential genes for cancer immunotherapy
Addressing the problem of why some tumors don’t respond to immunotherapy or respond initially but then stop as tumor cells develop resistance to immunotherapy.
Novartis CEO opens door to cancer patient demanding ‘fair’ CAR-T pricing
Because the treatment is personalized—immune cells are extracted from patients and engineered to recognize and kill their cancer—its impending approval has sparked concerns about just how expensive it might be.
FDA to approve Kymriah
The first approved CAR-T cell treatment.
Precision Medicine
Precision medicine, are we there yet?
An article written by Dr. Euan Ashley, Professor of Medicine, Stanford University.
Too Many Drug Trials, Too Few Patients
With the arrival of two revolutionary treatment strategies, immunotherapy and personalized medicine, cancer researchers have found new hope — and a problem that is perhaps unprecedented in medical research.
Genomic Medicine Has Entered the Building
With game-changing promises starting to pay off, hospitals need to start preparing now for the changes genomics will bring.
A Cancer “Atlas” to Predict How Patients Will Fare
Researchers use a big-data approach to find links between different genes and patient survival.
Making the Future of Personalized Medicine a Reality
A Q&A with the President of the Personalized Medicine Coalition, Edward Abrahams, PhD.
All of Us Precision Medicine Network Expands with $13.8M in Grants
Genomics/Genetic Testing
Science Says: DNA test results may not change health habits
If you learned your DNA made you more susceptible to getting a disease, wouldn’t you work to stay healthy?
Genetic testing threatens the insurance industry
Insurers worry about adverse selection; the insured worry about discrimination.
The 5 Smartest Companies Analyzing Your DNA – MIT Technology Review
Includes 23andMe, Illumina, Sophia Genetics, Oxford Nanopore, and Veritas Genetics.
NGS
CHOP to Lead New Pediatric Data Resource Center for Research in Childhood Cancer and Structural Birth Defects
The NIH selected the Children’s Hospital of Philadelphia to lead the development of a new data resource center to support data-driven research into pediatric cancers and structural birth defects.
EdicoGenome Launches DRAGEN On DNAexus ‘ Platform
DNAnexus users can now run DRAGEN’s ultra-rapid Genome Pipeline.
Liquid biopsies find distinct genomic profiles in most patients with carcinoma of unknown primary
Accidental discovery opens up new way to find unknown viruses
‘Simple’ blood exome test analyzes 20,000 genes to identify rare diseases
Microbiome
Microbes compete for nutrients, affect metabolism, development in mice
Gut bacteria get to use a lot of our food before we do.
Stanford study indicates that more than 99 percent of the microbes inside us are unknown to science
A survey of DNA fragments circulating in the blood suggests the microbes living within us are vastly more diverse than previously known.
Human genetic variation and the gut microbiome in disease
Recent microbiome genome-wide association studies reveal that variants in many human genes involved in immunity and gut architecture are associated with an altered composition of the gut microbiome.
Publications
A pathology atlas of the human cancer transcriptome
Comprehensive single-cell transcriptional profiling of a multicellular organism
Direct detection of early-stage cancers using circulating tumor DNA
The 10,000 Immunomes Project: A resource for human immunology
Deriving genomic diagnoses without revealing patient genomes
Mergers & Acquisitions
Invitae Acquires CombiMatrix, Good Start Genetics
Invitae has agreed to acquire two diagnostics developers, CombiMatrix and Good Start Genetics, for a combined $72 million in cash and stock, in a deal designed to expand the buyer’s diagnostics offerings across all stages of life.
Gilead Sciences to Acquire Kite Pharma for $11.9 Billion
The companies have entered into a definitive agreement pursuant to which Gilead will acquire Kite for $180.00 per share in cash.
Thermo Fisher Scientific Completes Acquisition of Patheon
Thermo Fisher acquired Patheon, a leading contract development and manufacturing organization (CDMO, for approximately $7.2 billion.
News for the month of July 2017
Artificial Intelligence (AI)
If you’re not a white male, artificial intelligence’s use in healthcare could be dangerous
Healthcare inequalities are systemic and closely intertwined with social inequalities.
How Alibaba Is Using Artificial Intelligence In Healthcare
Alibaba is charting a way to push the application of artificial intelligence (AI) in diagnostics and healthcare to make medical treatment more accessible, timely, and affordable. Alibaba Cloud is actively working on AI-powered solutions to tackle heath care problems in China and globally.
Study shows potential of whole genome sequencing and AI to help clinicians scale precision oncology
Digital Health
Digital Health Venture Funding Tops $4B in First Half of 2017
Includes patient engagement solutions with $684 million; data analytics with $458 million; mHealth apps at $399 million; booking at $391 million; telemedicine with $297 million; mobile wireless with $275 million and electronic medical records at $237 million.
Fitness Trackers Won’t Make You Fit. Can They Make You Well?
The race is on to come up with the next breakthrough. And this time, players much bigger than Fitbit may enter the fray. Google, Apple, and a number of pharmaceutical companies are trying to develop the next generation of wearables, which can track medical metrics in addition to fitness data.
Challenges, Opportunities of Mobile Health Devices in the Hospital
Digital health tools and data are changing how clinicians manage and coordinate care withpatients, both inside and outside the health system.
What’s needed to scale up digital health in the clinical provider space
Doctors want solutions that improve patient outcomes while simplifying workload.
The Smart-Medicine Solution to the Health-Care Crisis
Two digital health startups mark milestones to simplify medication orders
Precision Medicine
Genomic testing in oncology: from single genes to whole genomes
Here’s an overview of how the field of precision medicine with genomic testing tools has rapidly evolved in the past years.
Precision medicine is growing up
In spite of growing pains, those pioneering in the field must learn how to turn all the emerging knowledge into workable clinical and business models.
For the Cancer Moonshot, collaboration is still the number one fuel
No one company or person is curing cancer. Instead, the battle is being waged worldwide by thousands of academic labs, medical centers, government organizations, and life science companies working on everything from big data to diagnostics, clinical trials, and beyond.
Why genetic testing could become the DNA of insurance
NCI-COG Pediatric MATCH trial to test targeted drugs in childhood cancers
Companies Rush to Develop ‘Utterly Transformative’ Gene Therapies
Patient-Centered Vs. Lab-Centered ‘Personalized Medicine’
Immunotherapy / Immuno-oncology
Personalized Cancer Vaccines Look Promising in Two New Studies Vaccines tailored to the unique genetic makeup of individuals’ tumors seem to work in a handful of patients.
CAR-T Cell Therapy Is Here To Stay
NT-219 Re-sensitizes Cancer to Keytruda, Stopping Tumor Progression, Study Shows
F.D.A. Panel Recommends Approval for Gene-Altering Leukemia Treatment
Next-Generation Sequencing
NGS detects bacteria in Alzheimer’s brains
Thermo Fisher’s Oncomine Knowledgebase Reporter Aims to Simplify NGS Analysis
Genomics/Genetic Testing
Professor Dame Sally Davies’s releases annual report which addresses the challenges arising from genomic data
Download this eighth independent annual report of the Chief Medical Officer 2016: Generation Genome.
ClinGen lists labs meeting requirements for variant quality data sharing
Includes labs such as Ambry, Counsyl, GeneDx, Illumina, Invitae, and others.
Courtagen Life Sciences Shifts Focus to its Medicinal Cannabis Genetics and Testing Business
Courtagen closes its genetic testing business.
Aetna Won’t Cover Noninvasive Prenatal Testing for Average-Risk Pregnancies
Aetna updated its medical policy for noninvasive prenatal testing this week, choosing not to cover screening for average-risk pregnancies.
Helix just launched an ‘app store’ for genetics
DNA testing startup Helix has launched an “app store” for your genetic code with a number of partners offering tests on its new platform.
Gencove is offering a $59.99 genome sequencing assay, ancestry and microbiome testing
NIH to Fund Studies Examining Implications of Genome Research
Publications
16S rRNA Next-Generation Sequencing analysis shows bacteria in Alzheimer’s post-mortem brain
Haplotype phasing of whole human genomes using bead-based barcode partitioning in a single tube
Miscellaneous
This Year’s Top 10 emerging technologies according to the World Economic Forum includes technologies such as liquid biopsy, deep learning, and genomic vaccines
Pharmacogenomics Is ushering in a new era of personalized prescriptions
UCSF launches Lexicon, the central Data Catalog with metadata on over 250,000 items, metrics, and data sources
The BGI Genomics IPO – Is This a Chinese Illumina?
Illumina, Qiagen Settle DNA Sequencer Patent Dispute
First Human Embryos Edited in U.S.
The Top Ten News Stories of 2017
The Best-Positioned Tech Giant In Healthcare? The Answer Might Surprise You
George Church on What Comes After CRISPR – an interview by Mendelspod
Mergers & Acquisitions
Funding
Genoox raises $6M to make genetic data analysis more accessible for clinics
Exosome Diagnostics completes $30M series C financing
Illumina Accelerator selects five more startups to its Accelerator: Checkerspot, Chimera Bioengineering, Encompass Bioscience, Mantra Bio, and Solarea Bio
Alphabet invests in Bay Area biotech startup, builds it a new lab on Verily campus
Mark Zuckerberg, Priscilla Chan Donate $10M to Advance Health Using Big Data
Evelo Bio Raises $50M Round to Bring Microbiome Drugs Into Trials
News for the month of June 2017
June was a big month for precision medicine. Biden’s new Cancer Initiative continues the Cancer Moonshot mission. Immunotherapy treatments are gaining steam with pembrolizumab (Keytruda) being shown effective in tumors with defects affecting the “mismatch repair” pathway. With all these discoveries and treatments on the horizon, Vinod Khosla predicts that oncologists will become obsolete as Artificial Intelligence will automate the cancer treatment decision-making process!
Artificial Intelligence (AI)
Vinod Khosla predicts AI will replace human oncologists
Khosla: AI will be “explosive,” but that progress will come at the expense of other key problems.
AI is already beating us at our own game
AI systems are already outpacing the intellectual capabilities of their creators in a wide variety of fields.
Sophia artificial intelligence empowers liquid biopsy to fight cancer
Precision Medicine
Biden’s Cancer Initiative Continues “Moonshot” Mission
The Initiative aims to help drive new actions and collaborations toward the ambitious goal of ending cancer.
70% of Orgs Planning Precision Medicine Will Deploy Within 2 Years
Precision medicine is advancing quickly, with the majority of interested organizations planning to launch programs within the next two years.
The Biobanking Boom
An interview with Dr. Alissa Resch, Director, Biobanking Operations at Coriell Institute for Medical Research discussing key drivers, ethical issues, and new emerging trends in the biobanking space.
What are some misunderstood complexities of bringing clinical studies to patients’ homes?
Explores the key drivers of direct-to-patient (DTP) services and makes recommendations on how to simplify execution and bring about benefits to patients participating in – and companies running – clinical trials.
Big Data Integrity Needed to Use Genomics for Care Coordination
Genomic data will only be able to improve care coordination and personalized medicine if the industry can develop the big data integrity and analytics capabilities to ensure sharing across the care continuum.
Why gathering genetic data could mean a whole world of pain
Google-backed 23andMe announced it would be enlisting the help of 20,000 volunteers – along with German pharma company Grünenthal – to carry out a major new study of the genetics of pain.
The CEO of Children’s National Health System on Leadership, Innovation, and Delivering Specialized Care
Dr. Kurt Newman on the advantages and challenges of specialized children’s hospitals.
Routine DNA Sequencing May Be Helpful And Not As Scary As Feared
Machine Learning And The March Towards Precision Medicine
Next-Generation Sequencing
Reporting practices for unsolicited and secondary findings from next-generation sequencing technologies: Perspectives of laboratory personnel
This study highlights that laboratories are still grappling with decisions about which UF to report from NGS and are calling for more guidance.
Genomics England Adopts Illumina’s BaseSpace Variant Interpreter for Cancer
In the coming months, Genomics England will be expanding the use of BaseSpace Variant Interpreter for cancer to all NHS Genomic Medicine Centers, and Illumina will be removing the ‘Beta’ status from its software offering, and formally launching it for public release later this summer.
DNAnexus Launches Novel Platform for Human Microbiome Research
Illumina Announces FDA-approved Next-Generation Sequencing Cancer Companion Diagnostic Test Kit
Digital Health
Fostering Medical Innovation: A Plan for Digital Health Devices
New FDA Commissioner, Gottlieb, sets out a plan for regulating digital health technology which intends to foster innovation and help the agency to devote more resources to higher risk priorities.
An overview of Apple’s healthcare operations
An overview of Apple’s healthcare operations, including FDA-cleared devices, wearable glucometer, health-related acquisitions, and more.
The consumerization of healthcare
Immuno-oncology
Precision Oncology: Gene Changes Predict Immunotherapy Response
Promising news from pembrolizumab clinical trial, which was expanded to include 86 adults with 12 different types of mismatch repair-deficient cancers that had been previously treated with at least one type of standard therapy.
Cancer drug proves to be effective against multiple tumors
The FDA approved pembrolizumab, brand name Keytruda, for patients whose cancers arise from the same genetic abnormality.
Checkpoint inhibitors flourish
Immunotherapy takes on tumors that can’t fix DNA
Genomic/Genetic Testing
Mt. Sinai Spinout Sema4 Aims to Expand Genomic Testing; Sees Future in Data Science
Mount Sinai Health System has spun out several genetic testing and data sciences components into a private company.
New concerns raised over value of genome-wide disease studies
Large analyses dredge up ‘peripheral’ genetic associations that offer little biological insight, researchers say.
FDA Approves First Companion Diagnostic Test to Simultaneously Screen for Multiple Non-Small Cell Lung Cancer Therapies
Oncomine Dx Target Test (Thermo Fisher Scientific) is now FDA approved to help physicians develop treatment plans for lung cancer.
Agendia’s MammaPrint® Now Included in Blue Shield of California Coverage for Breast Cancer Patients
Would you pay $6400 for the mother of all genetic tests?
Cloud Computing
Cloud Computing Companies Move Into Medical Diagnosis (GOOG, IBM)
Google is gearing up to provide “Diagnostics-as-a-Service” capabilities through its cloud division.
Amazon still dominates cloud computing as Microsoft and Google struggle to catch up
Amazon Web Services Inc. has retained an impressive lead in Gartner Inc.’s latest Magic Quadrant for Cloud Infrastructure as a Service.
Miscellaneous
Ambry Genetics to cut nearly 100
Ambry Genetics is exploring possible sale following a period of dramatic growth
The Man Behind San Diego’s $26 Billion Company
Will Illumina’s new hotshot CEO, Francis deSouza, be able to lead the San Diego genomics giant into the complex world of clinical care?
How Boston Became ‘The Best Place In The World’ To Launch A Biotech Company
It all started at a City Council meeting in the 1970s.
Guardant sues Foundation Medicine over false advertising
Guardant sues FMI for false and misleading statements in its advertising about the accuracy of Guardant360.
George Church receives Mendel Award at ESHG 2017 – Mendel Lecture
NIAID scientists discover rare genetic susceptibility to common cold
Publications
More than 18,000 Genomic Records from Cancer Patients Available
An Expanded View of Complex Traits: From Polygenic to Omnigenic
Microbioal genetic composition tunes host human longevity
New concerns raised over value of genome-wide disease studies
One in five ‘healthy’ adults may carry disease-related genetic mutations
Wide-Open: Accelerating public data release by automating detection of overdue datasets
Mergers and Acquisitions
Eurofins acquires GATC in Germany & Genoma Laboratory group in Italy
Invitae Acquires Ommdom’s CancerGene Connect
Funding
Navican Genomics raises $15M in series A to commercialize TheraMap & expand precision medicine cancer care offering
Swift Biosciences raises $12.2M in Series D -> Launches Next Phase of Company Growth and Expansion
CellMax Life Receives NT$23M Grant From Taiwan Government for Cancer Early Detection Test
SerImmune Inc. Raises $8M to Map the Human Antibody Repertoire
ASCO 2017
Web-Based System for Self-Reporting Symptoms Helps Patients Live Longer
ProfiLER Study Demonstrates Importance of Genomic Testing for Precision Medicine
ASCO expands TAPUR Sites: Inks collaboratioon to investigate precision oncology globally
News for the month of May 2017
May’s news was full of the hopes as well as the challenges for precision medicine and next-generation sequencing. New partnerships, ventures and funding rounds are rapidly driving the industry forward. However, clinicians are still wondering how long it will be before the benefits of NGS and personalized medicine outweigh the costs.
Next-Generation Sequencing
Pocket-sized sequencers start to pay off big
Portable sequencers are opening up genomics to remote locations such as the Antarctic. Oxford Nanopore hints that smart phone powered sequencers are on the horizon.
Illumina plans to expand its operation in China after recording high double-digit growth in the past two years.
Integrated DNA Technologies partners with Illumina
The partnerships aims to deliver robust multiplexing capabilities and streamline target enrichment methods.
Repositive launches Personal Genome Project data collection
Repositive is expanding the range of data available with the launch of a Specialist Data Collection for the Personal Genome Project.
Bluebee and Medisapiens Announce Strategic Partnership
The combined partnership is offering an integrated end-to-end NGS analysis and interpretation solution for clinical and research applications.
See our Bio-IT World 2017 conference wrap up Bio-IT 2017 – Data Security, Data Sharing, Data Access, Data Integration, Data…. with a summary of industry and next-generation sequencing news coinciding with the event which includes news from the Broad Institute, DNAnexus, Edico Genome, Illumina, SolveBio, and other companies.
Precision Medicine
When Even Genome Sequencing Doesn’t Give a Diagnosis
The technology has been touted as a powerful diagnostic tool, but it doesn’t provide answers to everyone.
In an Era of Precision Medicine, Testing New Approaches to Breast Cancer Screening
Trying to move precision medicine in the arena of breast cancer screening, a new trial aims to recruit 100,000 women.
This $25,000 physical has found some ‘serious’ health problems. Others say it has serious problems
Craig Venter’s “latest venture – a subsidiary called Health Nucleus based in San Diego, California – says it can detect undiagnosed health problems by combining DNA analyses with a $25,000 workup including a whole-body MRI scan, metabolomics screening, 2 weeks of constant heart monitoring, pedigree analysis, microbiome sequencing, and a glut of standard laboratory tests.”
Liquid Biopsies Remain Wait and See for Some Clinicians
Clinicians are starting to become aware of the advantages liquid biopsy offers, but they still have reservations. They will not fully accept liquid biopsy until they see substantive demonstrations that the sample-collecting method offers unique benefits to patients, without depriving them of any of the benefits that are already available with traditional biopsy techniques.
Q&A With Daryl Pritchard, PhD, of the Personalized Medicine Coalition
An interview with Daryl Pritchard, PhD, vice president for Science Policy at the Personalized Medicine Coalition, on the FDA’s drug approval process, developments in the personalized medicine field, and reimbursement models that integrate diagnostics.
Denmark Launches National Genome Center and Personalized Medicine Initiative for Improved Healthcare for Danish Citizens
The Danish government will spend about $14.2M over the next three years on expanding personalized medicine and genomic data into electronic medical records, and establishing a national genome center.
How Penn Medicine primed its IT infrastructure for precision medicine
An interview with Brian Wells, Penn’ associate vice president of health technology and academic computing, who explains some of the technology innovations Penn Medicine has made as it works to improve integration with its electronic medical record and use of analytics tools to mine unstructured data to offer real-time decision support.
Artificial Intelligence (AI)
Hospital uses AI to embrace clinical genomics
“Artificial intelligence (AI) is able to sift and analyze vast amounts of genomic data, thereby enabling clinical scientists to better diagnose patients.” Jurgi Camblong, CEO of Sophia Genetics, explains how this has helped doctors working in the genetics department at a major London teaching hospital.
Sophia Genetics announced release of Whole Exome Solution (WES) and Clinical Exome Solution (CES)
Based on pattern-recognition technologies, SOPHiA features a database search engine for the identification and retrieval of matching variants regardless of their representations, alignment, or complexity.
Other News
Senate Confirms Scott Gottlieb to Head F.D.A.
CRISPR kills HIV and eats Zika ‘like Pac-man’. Its next target? Cancer
China Pushes Ahead With Human Gene-Editing Trials
Trump Calls for 18 Percent Cut to NIH Budget in FY 2018
23andMe Is Making Its First Foray into At-Home Research, to Study Pain
Publications
Open sharing of genomic data: Who does it and why?
Guidelines for Validation of Next-Generation Sequencing–Based Oncology Panels
Mergers & Acquisitions
GRAIL merges with Cirina
This business combination will focus on early cancer detection and allows GRAIL to expand its ability to make an impact globally.
Funding
Edico Genome raises $22M in Series B
Edico Genome raises $22M in Series B from Dell Technologies Capital for software development, sales, and marketing. The company plans to grow to 60 employees by end of 2017.
BC Platforms raises $10M in Series B
BC Platforms Closes USD $10 million Series B Financing led by Debiopharm and Tesi to accelerate knowledge platform development.