The FDA has recently approved the first direct-to-consumer reporting of a germline mutation for cancer risk—specifically, three BRCA gene mutations tested by 23andme.
Understandably, this has garnered a lot of media attention.
All practitioners should know that there are several caveats to this approval.
According to the FDA, "The test only detects three out of more than 1,000 known BRCA mutations. This means a negative result does not rule out the possibility that an individual carries other BRCA mutations that increase cancer risk."
Also according to the FDA:
"The three BRCA1/BRCA2 hereditary mutations detected by the test are present in about 2 percent of Ashkenazi Jewish women, according to a National Cancer Institute study, but rarely occur (0 percent to 0.1 percent) in other ethnic populations. All individuals, whether they are of Ashkenazi Jewish descent or not, may have other mutations in BRCA1 or BRCA2 genes, or other cancer-related gene mutations that are not detected by this test. For this reason, a negative test result could still mean that a person has an increased risk of cancer due to gene mutations."
Do you know how to answer questions about BRCA testing?
Understand what these mutations actually are and who should be referred for testing. A concise, practitioner-focused review of the topic can be found here.
This paper will help you:
- Explain what BRCA mutations are and how they are involved in cancer risk
- Determine which of your patients should be referred to genetic counseling for testing for BRCA or other germline mutations
- Understand how your patients with known mutations may be able to modify their risk of cancer.
Read the FDA's full statement.