FDA Approves Consumer Test for Certain BRCA Mutations

The US Food and Drug Administration (FDA) has approved the first direct-to-consumer tests for certain BRCA1 and BRCA2 gene mutations. People who have inherited these gene mutations have a higher than average risk of developing certain cancers. They can also pass down these gene mutations to their children. In the US, BRCA mutations are more common in Ashkenazi Jews, but people of other racial and ethnic groups can also have them.

The newly approved tests are for 3 specific BRCA gene mutations. Women who test positive for one of the mutations are at increased risk of developing breast and ovarian cancers. Men who test positive for one of the mutations are at increased risk of developing breast and prostate cancers. However, there are more than 1,000 known BRCA mutations, and the 3 included in the newly approved test are not the most common ones. This means there are many BRCA mutations that would not be detected by this test.

Len Lichtenfeld, MD, MACP, Deputy Chief Medical Officer for the national office of the American Cancer Society, explains some of the complexities of interpreting these test results in his online blog. A concern is that people who get a negative test result, which means they do not have one of the 3 mutations they were tested for, may believe they are “in the clear” even though it’s still possible they have one of the other 1,000 or so BRCA gene mutations that put them at higher risk for developing cancer.

The FDA says there can be problems if the test results are used without consulting a medical professional. The test should not be used as a substitute for cancer screening or genetic counseling that may be recommended by a medical professional based on the risk for cancer. The FDA also says the test does not provide information on a person’s overall risk of developing any type of cancer.

Taking the test

The FDA granted authorization for marketing the test to 23andMe. People who order the test kit from 23andMe collect a small amount of saliva in a container and mail it to a laboratory for analysis. A report with the results is then mailed back to the consumer.

According to the FDA, BRCA gene mutations detected by the test are present in about 2% of Ashkenazi Jewish women, and in less than 0.1% of the US population overall.

Most cases of cancer are not caused by hereditary gene mutations but are thought to be caused by a wide variety of factors, including smoking, obesity, hormone use and other lifestyle issues. A health care professional can help people understand how these factors impact their individual cancer risk.

It’s understandable that people with a family history of cancer may want to learn their genetic makeup. Still, genetic testing is not helpful for everyone. If cancer runs in your family, and you have a reason to think you might benefit from genetic testing, it’s best to talk with your health care provider and plan to meet with a genetic counselor before taking any genetic test. This will help you know what to expect. The counselor can tell you about the pros and cons of the test, what the results might mean, and what your testing options are.

The American Cancer Society medical and editorial content team
Our team is made up of doctors and master's-prepared nurses with deep knowledge of cancer care as well as journalists, editors, and translators with extensive experience in medical writing.

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