The first report from a big public-private project to improve genetic testing reveals it is not as rock solid as many people believe, with flaws that result in some people wrongly advised to worry about a disease risk and others wrongly told they can relax. Researchers say the study shows the need for consumers to be careful about choosing where to have a gene test done and acting on the results, such as having or forgoing a preventive surgery. "We have very clear documentation that there are differences in what patients are getting" in terms of how tests on the same gene variations are interpreted, said the study leader, Heidi Rehm, genetics lab chief at Brigham and Women's Hospital in Boston. When deciding to get tested, either through a doctor's office or by sending in a swab to a private company, "patients need to choose labs that are sharing their data" with the broader research community so scientists can compare and learn from the results and make testing more accurate for everyone, she said. Dozens of companies now offer gene tests to gauge a person's risk of developing various disorders.
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Anna Almendrala, Huffington Post: Living
Wed, 05/27/2015 - 8:44am
Topics: researchers heidi rehm brigham women's hospital boston dozens clinvar harvard emory ambry genetics genedx on wednesday washington new england journal medicine michael watson american college medical genetics genomics dr eric topol scripps translational science institute la jolla california marilynn marchione copyright the associated press this the huffington post to in we and an consumers tests risk patients study labs people data project disease wrongly results effect genes report percent published millions preventive breast private database surgery terms problem lab years unknown
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