The Food and Drug Administration (FDA) has granted marketing authorization to 23andMe for its Personal Genome Service Genetic Health Risk (GHR) report for select variants of BRCA1 and BRCA2. The agency categorized 23andMe’s test as a class II device after reviewing it through the de novo premarket pathway, a regulatory pathway for novel, low-to-moderate risk devices that the agency deems similar to previously cleared or approved devices. Along with this authorization, FDA is also now establishing special controls to provide reasonable assurance of safety and effectiveness for this test.
This is the first direct-to-consumer test to report on three specific BRCA1/BRCA2 gene mutations that are most common in people of Ashkenazi (Eastern European) Jewish descent. These three mutations are present in about 2% of Ashkenazi Jewish women, but they are not the most common BRCA1/BRCA2 mutations in the general population and rarely occur in other ethnic populations.
The test analyzes DNA from a self-collected saliva sample, and the accompanying report describes if a woman is at increased risk of developing breast and ovarian cancer, and if a man is at increased risk of developing breast or prostate cancer. Because there are more than 1,000 known BRCA mutations, however, a negative result from this test does not rule out the possibility that an individual carries other BRCA mutations that increase cancer risk. FDA is requiring 23andMe to educate consumers about the test and emphasize that consumers and healthcare professionals should also not use the test results to determine any treatments, including anti-hormone therapies and prophylactic removal of breasts or ovaries. Such decisions require confirmatory testing and genetic counseling.