The FDA (US Food and Drug Administration) has approved the first direct-to-consumer tests for certain BRCA1 and BRCA2 gene mutations. Those people who have inherited these gene mutations have a higher than average risk of developing certain cancers. These gene mutations can also be passed down to their children. In the US, BRCA mutations are more common in Ashkenazi Jews, but it has been shown that people of other racial and ethnic groups can also have them.
These newly-approved tests are for 3 specific BRCA gene mutations. For women who test positive for one of the mutations, risk of developing breast and ovarian cancers is increased. For men who test positive for one of the mutations, their risk of developing breast and prostate cancer is increased. There are more than 1,000 known BRCA mutations, however, and the three included in the newly-approved test are not the most common ones. So in essence, this means there are many BRCA mutations that would not be detected by this test.
According to the FDA, problems can result if the test results are used without consulting a medical professional. This 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 that this new 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. The test is very simple to take; people who order the test kit collect a small amount of saliva in a container and mail it to a laboratory for analysis. Then a report with the results is mailed back to the consumer.
According to the FDA, BRCA gene mutations detected by the test are present in only 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. They are thought to be caused by a wide variety of factors, including smoking, obesity, hormone use and other lifestyle issues. Advice from a health care professional can help people understand how these factors impact their individual cancer risk.
And while it is understandable that people with a family history of cancer may want to learn their genetic makeup, genetic testing is not helpful for everyone. If you believe that 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 helps people know what to expect. The genetic counselor can tell you about the pros and cons of the test, what the results might mean, and what your testing options are.