WOW! 4.2% of people who thought they had a pathogenic BRCA variant based on SNP chip (like 23andMe, Ancestry, etc.) results actually had one. These people thought they were super high-risk for breast cancer, but they mostly weren't.
Ming "Tommy" Tang
Ming "Tommy" TangJan 19, 22:45
1/ Women scheduled surgery after being told they had rare BRCA1 variants. The genetic test was wrong. University of Exeter analyzed 50,000 samples to find out how often this happens. The results should worry anyone who's downloaded their 23andMe raw data.
Also: 65.4% of people who had pathogenic BRCA variants *did not* have that result detected by the SNP chip. So they vastly over-call positives and miss a majority of true pathogenic carriers. Don't use 23andMe for your health information unless you're using whole-genome.
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