March 6, 2018—Today, the U.S. Food and Drug Administration (FDA) authorized marketing for the first direct-to-consumer (DTC) genetic test for three specific BRCA1 and BRCA2 gene mutations most commonly found among people of Eastern European Ashkenazi Jewish descent. The three mutations tested in this kit are not the most common BRCA1/2 mutations in the general population.
 
This test “is a step forward in the availability of DTC genetic tests,” said Donald St. Pierre, acting director of the Office of In Vitro Diagnostics and Radiological Health in the FDA’s Center for Devices and Radiological Health in a press release. “But it 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,” continued Pierre.
 
The test analyzes DNA from a self-collected saliva sample, providing information on if a woman may have increased risk of developing breast or ovarian cancer, and if a man has increased risk of developing breast or prostate cancer. The test only detects three out of 1,000+ known BRCA mutations. A negative test result does not exclude the possibility that a patient harbors another BRCA mutations that may also increase risk of developing cancer.
 
The FDA stressed consumers and HCPs should not utilize this test in determining treatment selection, including anti-hormone therapies and prophylactic mastectomy or oophorectomy. Such decisions require strict confirmatory testing and genetic counseling. Further, this test does not provide information on a person’s overall risk of developing any type of cancer.
 
“The test should not be used as a substitute for seeing your doctor for cancer screenings or counseling on genetic and lifestyle factors that can increase or decrease cancer risk,” said Pierre.
 
The three BRCA1/2 hereditary mutations detected by this test are present in about 2% of Ashkenazi Jewish women, but only 0% to 0.1% in all other ethnic populations. All individuals, regardless of Ashkenazi Jewish descent, may have other mutations in BRCA1/2 genes that are not detected by this test. A negative test result does not exclude increased risk of developing cancer.
 
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Jonathan A. Bell
Published Online: Tuesday, March 06, 2018