Missteps In Genetic Profiling Sometimes Lead To Devastating Consequences

first_img In other news involving genetic research — Stat: Synthetic Human Genome Project Releases Its Draft Timeline Missteps In Genetic Profiling Sometimes Lead To ‘Devastating Consequences’ A new report warns of the “dark side” of genetic testing — including fumbles that lead to patients receiving unnecessary surgery. This is part of the KHN Morning Briefing, a summary of health policy coverage from major news organizations. Sign up for an email subscription. NPR: Gene Scans For Newborns Open Big Privacy Questions Stat: Genetic Testing Fumbles, Revealing ‘Dark Side’ Of Precision Medicine Enthusiasm for precision medicine, from the White House down to everyday physicians, is at an all-time high. But serious problems with the databases used to interpret patients’ genetic profiles can lead to “inappropriate treatment” with “devastating consequences,” researchers at the Mayo Clinic warned on Monday. Their report describes the cases of some two dozen people who had heart defibrillators surgically implanted but, it turns out, never needed them. The individuals were family members who underwent genetic testing after a young relative died of a heart syndrome. Test results indicated that they carried a mutation in a heart-related gene — and the database that the testing company used indicated it caused a potentially fatal disorder. (Begley, 10/31) The research group behind an effort to synthesize a human genome this week released more information about its plans, including a draft white paper with a timeline of how the research might go. It’s the latest step in the ambitious project, originally named “Human Genome Project-Write,” which came to light after a May meeting to discuss the building of large genomes from off-the-shelf parts. Within a year, the international group will select one small-scale research project to kick off the effort, and start a “major effort to engage with representative members of the public,” according to the draft road map. By year five, it will “shift into high gear” and start tackling the creation of entire genomes — maybe human or maybe not, depending on feedback. (Swetlitz, 10/28) Just about every day, genetic counselor Shawn Fayer heads to the maternity ward at Brigham and Women’s Hospital in Boston and tries to convince new parents to give him a blood sample. Fayer is offering gene sequencing for newborns. It gives parents a tantalizing look at their baby’s genetic information. (Harris, 10/31) last_img

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