On March 6, 23andMe announced that the FDA has approved its first direct-to-consumer test for mutations in the BRCA gene which are linked to breast cancer. This test is following their release the previous year of a test showing the person’s risk for ten diseases. According to Scientific American, the FDA approval is based on the accuracy of the test as well as consumers’ ability to understand the results.
Scientific American states that this test uses a saliva sample to test for BRCA1 and 2, but the test only identifies if the person has three mutations when there are more than a thousand known mutations. These specific mutations the test searches for are most common in Ashkenazi Jewish populations, but are still rare mutations. The most commons mutations in the BRCA gene are not detected by this 23andme test.
Additionally, most cases of breast cancer are not hereditary, but develop randomly. This means that genetic testing will never be able to predict the majority of breast cancer cases.
People are concerned that consumers will take this test and believe they do not have an elevated risk for breast cancer. The company has said the physicians and patients should not use this test to inform decisions about medical treatments, and it should only be used as preliminary treatment. People who are concerned about their risk for breast cancer should see a physician to assess their risk, potentially with a more thorough test that searches for more mutations.
Whether this development is positive or negative, it shows a movement towards more direct-to-consumer medical testing. It may be a cheaper way for people to obtain at least some genetic screening.
23andMe will be offering this test as part of their Health and Ancestry package. The world will have to wait and see if these direct-to-consumer tests are of benefit or detriment to the general population.