On March 6, 2018, the FDA approved the first-ever direct-to-consumer test for the identification of 3 variants in the BRCA1 and BRCA2 genes, which indicate a significant increased risk for breast or ovarian cancer in women, and prostate cancer in men.
The test is called Personal Genomic Service Genetic Health Risk Report for BRCA1/BRCA2 (Selected Variants) and is owned by 23andMe, a personal genetics company.
“This test provides information to certain individuals who may be at increased breast, ovarian, or prostate cancer risk and who might not otherwise get genetic screening, and is a step forward in the availability of DTC genetic tests. But it has a lot of caveats,” said Donald St. Pierre, FDA Acting Director, Office of In Vitro Diagnostics and Radiological Health. “While the detection of a BRCA mutation on this test does indicate an increased risk, only a small percentage of Americans carry one of these three mutations and most BRCA mutations that increase an individual’s risk are not detected by this test.”
The test accurately analyzes DNA from a self-collected saliva sample to identify any of these 3 types of BRCA genetic mutation variants. Finding a BRCA mutation can help women know that they may be at risk for breast or ovarian cancer, or help men to know that they may be at increased risk for prostate cancer.
Mr St. Pierre cautioned people that the test should not be used as a substitute for seeing their physician for cancer screenings or counseling on genetic and lifestyle factors.
Furthermore, the FDA cautioned that this test only detects 3 of more than 1000 BRCA mutations, and therefore does not rule out the risk for other mutations and the potential for cancer.
Anne Wojcicki, CEO and co-founder of 23andMe, said in a press release, “We believe it’s important for consumers to have direct and affordable access to this potentially life-saving information. We will continue pioneering a path for greater access to health information, and promoting a more consumer-driven, preventive approach to health care.”