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Ask the Experts: Developments in Genetic Testing

Michael Guo

guoGuo is an MD/PhD student pursuing his PhD at Harvard Medical School, Boston Children’s Hospital and the Broad Institute. Guo also serves as President of the American Physician Scientists Association (APSA), a student-run organization dedicated to the advancement of physician-scientists in training.

What exciting developments in genetic testing should we expect to see in 2015? “The most exciting development that consumers can expect in terms of genetic testing this year is the development of new ways of sharing genomic data across millions of people. Every person’s genome will carry dozens (if not more) genetic variations of unknown significance. Some of these will be mutations in genes that are known to cause disease, but the effect of that specific mutation is unknown. Other mutations will occur in genes that are not associated with disease. The challenge is in interpreting these mutations.  However, everyone’s genome is different, and there are no robust large-scale databases that catalog the effects of different mutations on disease.

A new and very important effort called the Global Alliance for Genomics and Health (GA4GH) seeks to address this void, aggregating the hundreds of thousands of genomes that have been generated so that we can actually learn from the genomic data and help people understand what their mutations might actually mean.  Of course, this poses a computational and organizational challenge and must also be done in a manner that respects patients’ privacy. One of the initaitives within GA4GH is called the MatchMaker exchange, which will allow researchers and doctors to submit mutations in genes that have not been associated with disease and check if mutations in that gene have been seen by other researchers/doctors around the world.  Through this initiative, it is the hope that people will be able to make greater sense of their genetic information and draw new associations between genes and disease.”

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Jenni Whalen

Jenni Whalen

    Jenni Whalen is the Executive Assistant of Editorial at Upworthy. She was previously MedTech Boston's Managing Editor and has an MS in Journalism from Boston University, as well as a BA in Psychology from Bucknell University. Whalen has written for Greatist, Boston magazine, AZ Central Healthy Living and the New England Journal of Medicine, among other places. She has also worked as a conference planner, ghost writer, researcher and content developer.

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