Inaccuracies in consumer genetic tests for BRCA mutations prompt call for crackdown from UK doctors

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Senior doctors have called for a crackdown on consumer genetic tests, following an influx of patients who have been wrongly told they are carrying dangerous mutations linked to cancer or other devastating conditions.

Doctors warn that the issue is placing an increasing burden on GP surgeries and NHS genetics clinics, which are left to deal with the fallout when people receive alarming or confusing results.


Recent analysis of a commercial DNA chip found that it was correct just 17% of the time when it detected a rare pathogenic BRCA mutation of the kind that’s substantially increases risk of breast and ovarian cancer. The test was also found to miss more than half of those with actual BRCA mutations, in a dataset is nearly 50,000 individuals, raising concerns that people with family histories of breast cancer could be falsely reassured by negative results.

Caroline Wright, a genomics researcher at Exeter University who led the analysis, said: “The findings are shockingly bad. At the point where they’re this bad, you have to think about not sharing the data. It can be so damaging to the individual if they find out this completely erroneous information.”

Read full, original post: Senior doctors call for crackdown on home genetic testing kits

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