First direct-to-consumer test for breast cancer risk hits market

March 12, 2018

FDA approved the first direct-to-consumer test for three specific BRCA1/BRCA2 breast cancer gene mutations.

FDA approved the first direct-to-consumer (DTC) test for 3 specific BRCA1/BRCA2 breast cancer gene mutations.

The Personal Genome Service Genetic Health Risk (GHR) Report for BRCA1/BRCA2 (Selected Variants), from 23andme, tests for 3 specific BRCA1/BRCA2 breast cancer gene mutations that are most common in people of Ashkenazi (Eastern European) Jewish descent. The 3 mutations, however, are not the most common BRCA1/BRCA2 mutations in the general population, FDA said in a statement.

Related: FDA approves first drug for breast cancer with BRCA gene

In January, FDA also approved the first drug to treat certain patients with metastatic breast cancer who have a BRCA gene mutation. FDA expanded the approved use of olaparib (Lynparza, AstraZeneca and Merck) beyond ovarian cancer, to include the treatment of patients with certain types of breast cancer that have metastasized and whose tumors have a specific inherited BRCA genetic mutation.

Meanwhile, the GHR Report only detects 3 out of more than 1,000 known BRCA mutations. “This means a negative result does not rule out the possibility that an individual carries other BRCA mutations that increase cancer risk,” FDA said.

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“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, acting director of the Office of In Vitro Diagnostics and Radiological Health in the FDA’s Center for Devices and Radiological Health, in the statement. “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 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.”

The test analyzes DNA collected from a self-collected saliva sample, and the 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 cancer or may be at increased risk of developing prostate cancer.

“Consumers and health care professionals should not use the test results to determine any treatments, including anti-hormone therapies and prophylactic removal of the breasts or ovaries. Such decisions require confirmatory testing and genetic counseling, “ FDA said. “The use of the test carries significant risks if individuals use the test results without consulting a physician or genetic counselor.”

The three BRCA1/BRCA2 hereditary mutations detected by the test are present in about 2% of Ashkenazi Jewish women, according to a National Cancer Institute study, but rarely occur in other ethnic populations, according to FDA.

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