FDA approves first home-based testing for three BRCA mutations

The US Food and Drug Administration (FDA) has approved the first direct-to-consumer tests for three BRCA1 and BRCA2 gene mutations that are most common in people of Ashkenazi (Eastern European) Jewish descent, but people of other racial and ethnic groups can also have them.

This gives the ability to consumers to order the test directly from home without a consultation or order of healthcare provider.

Women who test positive for any of the three mutations are at increased risk of breast and ovarian cancer and men who test positive are at increased risk of breast cancer. A negative test does not rule out the possibility of the presence of other BRCA mutation which can still put you at increased risk of cancer. There are about 1000 BRCA mutations and the test only detects 3 most common ones.

Absence of BRCA mutation does not also signify that the individual is not at risk of any other type of cancers.

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 said, “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.”  in the FDA’s press release.

He warned the consumers that this test should not be a substitute for your screening tests, annual physicals, and consultation with your physician about genetic tests and other lifestyle factors that may influence your risk of developing cancers.

The test results should also not be the sole basis to determine any treatments, including anti-hormone therapies and prophylactic removal of the breasts or ovaries.

After the test results are available, the individual should consult the physician who can request for additional tests and assess your individual risk of getting breast and ovarian cancer. Most cancers are not caused by the mere presence of these mutations, but they are the result of complex interplay between your genes, environment and lifestyle.

The physician will also advise you about ways of reducing the risk of developing cancer.

The FDA granted the marketing authorization to 23andMe, for this test. The company will report the results as a part of its $199 Health and Ancestry product. The consumers who wish to get tested request for a kit that is mailed to them. The saliva samples are collected at home and mailed back in the same kit. Results are ready in 6-8 weeks’ time and can be viewed online by logging into the account.

In April 2017, 23andMe has already received FDA clearance for at home testing of 10 genetic diseases.

Angelina Jolie famously documented her double mastectomy in The New York Times after testing positive for a BRCA mutation and is often held responsible for rising in inappropriate BRCA testing around the world.

In the wake of the announcement by FDA, we are sure to see a rise in the pool of women with BRCA testing.

FDA press release

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