FDA Approves Historic First At-Home Breast Cancer Genetic Test

A few months ago, the Food and Drug Administration (FDA) approved the use of a genetic test created by 23andME for identifying mutations in the BRCA1 and BRCA2 genes.

By now, it is well-known that specific inherited mutations in BRCA1 and BRCA2 genes increase the risk of certain cancers, including breast and ovarian cancer. Women with BRCA1 and BRCA2 mutations tend to develop breast and ovarian cancers at younger ages, as opposed to women who do not have these mutations. In addition, these specific gene mutations have been associated with increased risks of other types of cancer as well.

Fortunately, there are several different tests available to identify mutations in BRCA1 and BRCA2 genes. A few tests search for a specific BRCA1 or BRCA2 gene that has already been detected in another family member, while others look for known harmful mutations in both genes. Multigene panel testing uses next-generation sequencing to test several genes associated with an increased risk of breast and ovarian cancers, at the same time. A DNA sample, such as from saliva or blood, is necessary for all of these tests. The sample is then sent to a laboratory for further analysis and it usually takes about 4 weeks to receive the test results.

Who should consider genetic testing for BRCA1 and BRCA2 mutations?

Mutations in BRCA1 and BRCA2 genes are fairly rare among the general population. For this reason, a majority of health experts agree that genetic testing should be performed only when an individual has a personal or family history that suggests the likely presence of a harmful BRCA1 or BRCA2 mutation.

Several screening scenarios are available to help providers assess the increased probability of having a harmful mutation in BRCA1 or BRCA2 genes, including:

• Breast cancer diagnosed before the age of 50
• Cancer in both breasts in the same woman
• Multiple cases of breast cancer in the family
• Both breast and ovarian cancers in the same woman or in the same family
• Two or more BRCA1 or BRCA2-related cancers in one family member
• Cases of male breast cancer in the family
• Ashkenazi Jewish ethnicity

Introducing the at-home genetic test for breast cancer

Although it is not the first direct-to-consumer test available on the U.S. marketplace, it is the first one specifically designed for testing BRCA mutations at home, without a doctor’s permission. “Being the first and only direct-to-consumer genetics company to receive FDA authorization to test for cancer risk without a prescription is a major milestone for 23andMe and for the consumer,” said Anne Wojcicki, CEO and co-founder of 23andMe.

Read on to learn more about how the test works, and about its advantages and disadvantages.