FDA Authorizes First Direct-to-Consumer BRCA Mutation Test

"The test should not be used as a substitute for seeing your doctor for cancer screenings," said FDA director of In Vitro and Radiological Health
"The test should not be used as a substitute for seeing your doctor for cancer screenings," said FDA director of In Vitro and Radiological Health

The first direct-to-consumer (DTC) BRCA1/BRCA2 test has been authorized by the Food and Drug Administration (FDA). However, the test is limited in that it can only assess 3 mutations of breast cancer, most often only found in individuals of Ashkenazi (Eastern European) Jewish descent.

The market authorization for the test has been granted to the consumer genome and ancestry company, 23andMe. The decision expands the Company's Personal Genome Genetic Health Risk (GHR) Report to now detect these breast cancer mutations. It works similarly to the Company's ancestry test, with the consumer providing a saliva sample which is then analyzed to tell if a woman is at increased risk of developing breast and ovarian cancer, or if a man is at increased risk of developing breast cancer or prostate cancer.

The FDA's director of the Office of In Vitro and Radiological Health, Donald St. Pierre noted that the test has a lot of caveats. "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."

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There are over 1000 known BRCA mutations so a negative test result does not rule out the possibility that an individual carries other BRCA mutations. “The test should not be used as a substitute for seeing your doctor for cancer screenings or counseling on genetic and lifestyle factors,” said St. Pierre.

According to a National Cancer Institute study, about 2% of Ashkenazi Jewish women carry 1 of the hereditary mutations the test can detect. Among other ethnic populations, this occurrence is only 0% to 0.1%. The test was reviewed through the de novo premarket review pathway. As part of the process, the FDA examined user comprehension data, using representative GHR test reports showing instructions and reports were generally easy to follow for the consumer.  

The Personal Genome Genetic Health Risk Report was first approved last April to provide information for a broad range of genetic disorders. 

For more information visit FDA.gov.