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FDA authorises first direct-to-consumer test for BRCA mutations, with caveats

Published on 06/03/18 at 05:01pm

The FDA has given its authorisation to the first ever direct-to-consumer (DTC) test to identify three BRCA gene mutations which are known to increase the risk of breast and ovarian cancer, it has emerged.  

The test, known as the Personal Genome Service Genetic Health Risk (GHR) Report for BRCA1/BRCA2 (selected Variants) from genomics and biotech firm 23andMe, works via a saliva sample and can be used by both women and men, identifying increased risk of breast cancer in both, and ovarian cancer in the former and prostate cancer in the latter. According to 23andMe, women who posses one of the mutations have a 45-85% chance of developing breast cancer by the age of 70.

However, as the US regulator noted in its authorisation, the three mutations identified by the test are not the most common ones for the general population, instead being most common in people of Ashkenazi (Eastern European) Jewish descent, and even in this group they are only present in around 2% of women, compared to less than 0.1% in other groups according to the National Cancer Institute. In reality, there are more than 1,000 known BRCA mutations, meaning that a negative test result does not rule out the possibility that the user may possess other mutations which increase their cancer risk.

Furthermore, the FDA warned that the test does not provide insight into a user’s overall risk of developing any type of cancer, and that most cancer cases are not the product of hereditary gene mutations but many other factors including smoking, obesity, hormone use and other lifestyle issues.

“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. “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 counselling on genetic and lifestyle factors that can increase or decrease cancer risk.”

The FDA further stressed that the test should not be used as a basis to decide on potential treatments or preventative measures, such as anti-hormone therapies or prophylactic removal of the breasts or ovaries. The agency urged users to utilise the test in tandem with consultation from a physician or genetic counsellor.

Matt Fellows

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