Ambry Genetics Launches a Free, Disease-Specific Genetic Sequencing Database For Public Use

Genome sequencing startup Ambry Genetics announces that it will make one of its most valuable assets, its data, freely available to the general public in order to help advance research on the links between genetic mutations and diseases. Called AmbryShare, the first dataset the company is releasing contains the de-identified data of 10,000 sequenced genomes from patients with breast or ovarian cancer. The company anticipates adding an additional 200,000 sequenced genomes to its database each year as it expands beyond cancer and into other diseases. The new database is currently optimized for researchers with a background in molecular biology and data analysis, but Ambry has confirmed that in the coming years it will dedicate development staff to improving the platform to make the data more accessible to clinicians and eventually the general public.

Ambry Genetics Launches a Free, Disease-Specific Genetic Sequencing Database For Public Use

The business case for the decision to publish this data is questionable, and bucks a longstanding trend by other genetics startups to monetize the data they amass, rather than the services they provide to the healthcare community. While Ambry seems content to give its data to the public not only for free, but at a cost, other startups like 23andMe have rescued their business models by monetizing their genetic data when service-based revenues were compromised. After the FDA shut down portions of 23andMe’s direct-to-consumer genome sequencing business, the company pivoted, and began selling access to its genetic database to pharmaceutical companies and research organizations. The move not only helped 23andMe survive a setback that very well could have put it out of business, but it also allowed it to then close a $115 million Series E funding round, suggesting that the new business model was an attractive one to investors.

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New Cancer Discovery Could Ramp Up Precision Medicine Efforts

Researchers from the University College London have published a groundbreaking report in Science describing a new way of identifying cancer cells within the body that may significantly improve upon the way current treatments target tumors. The study, which was conducted at the UCL Cancer Institute and funded by Cancer Research UK, piggy backs on work currently being done in the emerging field of immunotherapy, in which the body’s own immune system is trained to target and fight cancer cells. Many researchers point to immunotherapy as the future of cancer treatment. In an earlier report, the BBC calls immunotherapy “the most exciting field in cancer and probably in all of medicine right now.” Earlier this year President Obama launched a Cancer Moonshot project that relies heavily on advancing immunotherapy techniques to the point of having a viable cure for cancer.

New Cancer Discovery Could Ramp Up Precision Medicine Efforts

The problem researchers are facing with immunotherapy efforts is how to train the body’s immune system to eradicate all cancer cells in the body when cancer cells, by their very nature, mutate regularly, creating hundreds of variations that the immune system would need to target. The body’s immune system has been shown to be capable of finding and destroying certain cancer cells, but finding a single target to train the immune system to look for that would be present in all cancer cells in the body has thus far alluded researchers.

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Veritas Breaks The $1,000 Genome Sequencing Barrier

Cambridge, MA-based genetic sequencing vendor Veritas Genetics announces that it will begin sequencing patient genomes for $999, undercutting the long awaited $1,000 tipping point and offering not just test results, but also professional analysis and a video call with a genetic counselor. New originally broke that Veritas had broken the $1,000 threshold in September 2015, when it offered the service to patients enrolled in the Personal Genome Project, a Harvard University-based research study focused on precision medicine. The Personal Genome Project is run by Harvard professor and Veritas co-founder George Church. At the time, Church noted that while other vendors have reported sequencing DNA at a cost of $1,000, no vendor had found a way to sell both testing and interpretation services at that price point.

Veritas Breaks The $1,000 Genome Sequencing Barrier

Now, Veritas is extending its offer beyond Personal Genome Project participants and allowing doctors to order genetic tests for any patient at the same price point. The company hopes that the test will replace all stand-alone genetic tests because Veritas’ test sequences the full genome, inclusive of all six billion letters in the genome. By sequencing the genome once, patients will have test results from any screening a doctor may need to run now or in the future. An algorithm will analyze each letter and highlight any medical conditions that the patient would be genetically predisposed to.

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Researchers Use VR To Help Teach Addicts How To Cope With Cravings

Researchers from the University of Houston Graduate College of Social Work have created a virtual reality house party, complete with heroin using party guests, that it will use to help local addicts learn to cope in environments that would ordinarily trigger cravings and potentially a relapse in their recovery. The method has yet to be validated, but researchers are hopeful that by guiding addicts through the environment with the coaching of a therapist, the tool could replace traditional role-playing as a teaching aid.

Researchers Use VR To Help Teach Addicts How To Cope With Cravings

Called the “heroin cave” addicts can move around the virtual environment and engage with digital avatars at the party. Some of those avatars are snorting heroin, while others are injecting the drug. A therapist guides addicts through the home, and uses the encounters with the presence of drugs as an opportunity to evoke the kinds of cravings that users will feel in the real world. Patrick Bordnick, one of the lead researchers on the study, explains, "In traditional therapy we role-play with the patient but the context is all wrong. They know they’re in a therapist’s office and the drug isn’t there. We need to put patients in realistic virtual reality environments and make them feel they are there with the drug.”

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IBM Launches ResearchKit App To Study Sleep Apnea

At HIMSS16 this week, IBM and the American Sleep Apnea Association unveiled a new sleep tracking app designed for the Apple Watch or iPhone called SleepHealth. The app is built on the ResearchKit framework and is being rolled out as part of a larger effort by the American Sleep Apnea Association to collect data on sleep patterns and its impact on overall health, as well as daytime activities, productivity, and behavior. The American Sleep Apnea Association estimates that 10 percent of American’s suffer from chronic insomnia, while 25 million suffer from sleep apnea, many going undiagnosed for years.

IBM Launches ResearchKit App To Study Sleep Apnea

The new app uses the Apple Watch heart rate monitor to detect when a user has fallen asleep, and then uses motion sensors found in either the Apple Watch or the iPhone to record movements during sleep. The app will also capture daytime physical activity and will test alertness by administering a test measuring reaction time to stimuli. Users will be able to log when they are feeling alert or sleepy throughout the day, and will be able to activate nighttime settings on their phones with a preconfigured button that disables notifications and turns down the brightness of the display. A daily questionnaire will also allow researchers with a means of asking additional questions for the study.

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