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Industry News – 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.


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.


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.


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.


In Vivo Target Gene Activation via CRISPR/Cas9-Mediated Trans-epigenetic Modulation

A Living Biobank of Breast Cancer Organoids Captures Disease Heterogeneity

Developing a ‘Personalome’ for Precision Medicine: Emerging Methods that Compute Interpretable Effect Sizes from Single-Subject Transcriptomes

The whole-genome panorama of cancer drivers

It’s My Heart. Why is it Not my Data?

A High-resolution Map of the Human Small Non-coding Transcriptome


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.


Coimbra Genomics Raised €2.4M ($2.8M) to Accelerate the Expansion of their Digital Platform ELSIE to International Markets

Camden Partners Closes Biomedical Technology-focused Venture Capital Fund

News for the month of November 2017

Precision Medicine was center stage this November. Geisinger Medical Center is testing whether DNA sequencing can be the new routine for standard of care to US patients. In China, one million residents of the city of Nanjing will take part in a project to sequence their genomes. A massive data storage facility is being built and researchers believe the population genetics project will result in improved disease diagnosis and treatment.

Precision Medicine

Fighting Cancer One Patient At a Time
What drives drug companies to invest in markets of just a few thousand people?

Two Top Ex-Google Scientists Have Left Grail, a $1 Billion Cancer Startup
The departures come after Grail’s CEO Jeff Huber and lead scientist stepped down.

Precision Medicine: How an Evolving Definition has Helped Advance Clinical Accuracy
The term precision medicine has solidified itself as the critical descriptive concept of medicines’ future, although history tells it is hardly set in stone.

Geisinger Begins Returning Clinically Actionable Exome Sequencing Results to Patients
In an attempt to figure out how to best implement clinical sequencing within a health system, Geisinger Health System has begun returning clinically actionable results in a set of genes to patients enrolled in the MyCode Community Health Initiative.

More than 500 Geisinger MyCode participants receive clinical results from exome sequencing; most risks previously unknown
Geisinger is reaching more than 500 of its patients with clinical genetic risks through the MyCode Community Health Initiative (MyCode).

A Chinese Province Is Sequencing One Million of Its Residents’ Genomes
This project is an effort to identify population trends and the genetic basis of health disorders.

Genetics, Genomics, and Big Data in Medicine with Eric Schadt 
Hidden Forces podcast exploring the information technology of biology: DNA. In other words, we explore the world of genomics. This is where big data looms large.

Precision’ Prevails Over ‘Personalized’ Medicine in New ESMO Glossary 
European Society for Medical Oncology (ESMO) published a glossary designed to standardize the language in the field of Precision Medicine, and thus improve communication between oncologists, researchers and patients.

Blockchain Beyond EHRs: Transforming Value-Based Payment, Precision Medicine, Patient-Centric Care
The considerable hype around blockchain is starting to be tempered by enterprises earning practical experience and identifying worthwhile use cases for the technology.

How Pharmaceutical Firms Can Shape the Future of Healthcare
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.


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.


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.


Universal Patterns of Selection in Cancer and Somatic Tissues

Humans Are Still Evolving — And We Can Watch it Happen

Gene Expression Map of Human Body Gives Value to Variants

The Most Popular Genes in the Human Genome

Standards and Guidelines for Validating Next-Generation Sequencing Bioinformatics Pipelines: A Joint Recommendation of the Association for Molecular Pathology and College of American Pathologists


2017 is a Record Year for VC Funding in Biotech, Genetics

These 10 Companies Received 38% of Digital Health Investment Funding in 2016

Counsyl Raises $80M

Syapse Raises $30M in Series D to Scale its Precision Medicine Program

Genialis Raises $2.3M Seed Round to Advance Visual Exploration of Genomics Data

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.


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

Baylor College of Medicine is pleased to announce a licensing agreement with Genialis, Inc., for its NGS data management, analysis, visualization and dissemination software

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

The future of DNA sequencing

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

Foundation Medicine Receives Approval from the State of New York for its FoundationACT Liquid Biopsy Assay

Strata Oncology, Inc. Announces Partnership with UCSF to Launch Stratify Prostate™ Initiative to Expand Access to Precision Medicine Clinical Trials for 10,000 Men with Metastatic Prostate Cancer

5 New Ways Health Care Providers Can Apply Individualized Medicine to Patient Care

The Promise of Precision Medicine

Putting the precise in precision medicine


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


Second Genome launches study of the relationship between the microbiome and central nervous system in Autism Spectrum Disorders.

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


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

The cost of living with cancer can be enormous for some – eventually up to $10,000 or $15,000 a month

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

Women are underrepresented in computational biology: An analysis of the scholarly literature in biology, computer science and computational biology

National Academy of Medicine elects 80 new members


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

Reboot for the AI revolution

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

Mergers & Acquisitions

Precision for Medicine Acquires Leading Immune Monitoring And Epigenetic Technology Service Provider Epiontis

Who really owns Foundation Medicine?


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.

GNS Healthcare and Swedish Cancer Institute Launch Machine Learning Collaboration to Strengthen Delivery of Precision Medicine in Breast Cancer Care

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.

Frost & Sullivan Recognizes Sunquest for its Strides in Precision Medicine and Patient-Centered Healthcare

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


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.


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


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.


Chronic cigarette smoke-induced epigenomic changes precede sensitization of bronchial epithelial cells to single-step transformation by KRAS mutations

The human microbiome: Opportunity or hype?

Going with the flow: The promise and challenge of liquid biopsies


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.


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


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.


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

Lexogen, the transcriptomics and next-generation sequencing company, has launched a Small RNA-Seq Library Prep Kit

Accidental discovery opens up new way to find unknown viruses

‘Simple’ blood exome test analyzes 20,000 genes to identify rare diseases


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.


A pathology atlas of the human cancer transcriptome

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

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.


Helix, Illumina Partner to Support Startups for DNA-Driven Consumer Products

Color Genomics gets $80M more in funding, bringing its funding total to $150M – company is planning to move beyond genetics into preventative health.

News for the month of July 2017

July was a great month for funding! Genoox raised $6M, Blueprint Genetics raised €14M, and Exosome Diagnostics raised $30M. Mark Zuckerberg and Priscilla Chan donated $10M to launch UCSF’s Institute for Computational Health Sciences to advance health using big data. Liquid biopsies, deep learning, and genomic vaccines were listed as some of the year’s top emerging technologies. Check out July’s news below and stay posted for August’s to see what else the summer has in store.

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

Is big pharma really on cusp of AI shake-out?

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

How Apple is piecing together its secret healthcare plan

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

Is NGS living up to the hype?

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


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

Genetic predisposition to breast cancer due to mutations other than BRCA1 and BRCA2 founder alleles among Ashkenazi Jewish women

Deeply divergent archaic mitochondrial genome provides lower time boundary for African gene flow into Neanderthals

A prescription for cancer diagnostics


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

Konica Minolta to acquire Ambry Genetics in $1 billion deal

Thermo Fisher Scientific acquires Linkage Biosciences


Genoox raises $6M to make genetic data analysis more accessible for clinics

Blueprint Genetics has raised €14M to boost its genetic diagnostics platform, using artificial intelligence to interpret next-generation sequencing data

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


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.


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

CRISPR Platform Scans DNA to Predict Off-Target Effects


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


Navican Genomics raises $15M in series A to commercialize TheraMap & expand precision medicine cancer care offering

Twist Bioscience Raises Additional $27M in Series E Venture Capital Funding – has by now raised a total of $193M

Swift Biosciences raises $12.2M in Series D -> Launches Next Phase of Company Growth and Expansion

Centogene raises 25M euros in Series A – will use funds for biomarker & companion diagnostics development

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

Illumina and American Society of Clinical Oncology, Inc. Jointly Donate Thousands of Somatic Interpretations to CIViC to Advance Genomic 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.

Bio-IT World Launched First Hackathon with focus on FAIR data, data that are findable, accessible, interoperable, and reusable

Changes in NIH Grant Policy?

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

The FDA is going digital

23andMe Is Making Its First Foray into At-Home Research, to Study Pain


Open sharing of genomic data: Who does it and why?

Guidelines for Validation of Next-Generation Sequencing–Based Oncology Panels

Associations of Luminal and Basal Subtyping of Prostate Cancer With Prognosis and Response to Androgen Deprivation Therapy

Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource

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.


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


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