FDA Authorizes First Direct-to-Consumer Test That Reports Mutations in Breast Cancer Genes
By: Sarah Jackson
Posted: Tuesday, March 13, 2018
On March 6, 2018, the U.S Food and Drug Administration (FDA) authorized a Personal Genome Service Genetic Health Risk Report for selected variants of BRCA1 and BRCA2 genes. This is the first direct-to-consumer (DTC) test to report on three specific breast cancer gene mutations that are most common in people of Ashkenazi (Eastern European) Jewish descent.
The test analyzes DNA collected from a self-collected saliva sample, and the report describes whether a woman is at an increased risk of developing breast and ovarian cancers and if a man is at increased risk of developing breast cancer or prostate cancer. The test detects 3 of more than 1,000 known BRCA mutations, which means a negative result does not rule out the possibility that an individual carries other BRCA mutations that increase cancer risk.
The three BRCA1/BRCA2 hereditary mutations detected by the test are present in about 2% of Ashkenazi Jewish women, according a National Cancer Institute study, but rarely occur in other ethnic populations. All individuals, whether they are of Ashkenazi Jewish descent or not, may have other mutations in BRCA1 or BRCA2 or other cancer-related gene mutations that are not detected by this test. The test report provides information describing what the results might mean, how to best interpret the results, and where additional information about the results may be found.