FDA on Tuesday approved the first direct-to-consumer genetic test designed to assess an individual's risk of developing breast and other cancers linked to three gene mutations.
About the genetic test
The test, sold by 23andMe, analyzes DNA from a saliva sample to detect whether three gene mutations linked to breast and other cancers are present in an individual's genes. The test predicts whether a:
- Man is at an increased risk of developing breast cancer or might be at an increased risk of developing prostate cancer; and
- Woman is at increased risk of developing breast and ovarian cancer.
According to FDA, the test does not detect the most common gene mutations linked to breast cancer in the general population. Of the more than 1,000 known BRCA mutations, the test can detect the presence of three specific BRCA1/BRCA2 breast cancer gene mutations, which are most commonly found in individuals of Ashkenazi Jewish descent. As such, FDA said "a negative result does not rule out the possibility that an individual carries other BRCA mutations that increase cancer risk."
FDA approved the new test nearly five years after it ordered 23andMe to stop selling and marketing its genetic tests, which had provided individuals with information about their breast cancer risks, stating that the test had not been proven effective and could mislead consumers about their health.
According to FDA, data submitted by 23andMe show the new test:
- Can correctly identify the three genes in a saliva sample, with reproducible results;
- Generally provides easy-to-follow instructions for consumers; and
- Offers information for consumers to interpret the results and find additional information.
FDA said it will require the test to include warnings about the limitations of the genetic information it produces. The agency cautioned that the test "does not provide information on a person's overall risk of developing any type of cancer." It added, "The use of the test carries significant risks if individuals use the test results without consulting a physician or genetic counselor."
FDA also advised consumers and health care professionals not to use the test's results to determine treatments, such as anti-hormone therapies and prophylactic removal of the breasts or ovaries. "Such decisions require confirmatory testing and genetic counseling," FDA said (Johnson, "Wonkblog," Washington Post, 3/6; AP/Sacramento Bee, 3/6; Willingham, MedCity News, 3/6; Bankhead, MedPage Today, 3/6).
Advisory Board's take
Deirdre Saulet, Oncology Roundtable
FDA's authorization of the 23andMe BRCA test will undoubtedly add complexity to the world of breast cancer risk assessment, which can already be confusing for patients and providers alike. Cancer genetic counseling programs need to develop a proactive strategy to share education and clarification about the limitations of the 23andMe BRCA risk assessment. In particular, providers need to help patients understand that testing negative for these three variants is not a complete picture of their hereditary risk.
Furthermore, while consumers may feel like they're prepared for this information, learning that they carry a BRCA mutation will undoubtedly cause anxiety and stress. 23andMe will encourage their customers who test positive to follow up with a clinician, but there are concerns that physicians won't be prepared or will have reservations about the test results. Organizations should create processes to connect these patients with genetic counseling to help them understand their genetic information, family history, further testing options, and, if necessary, prophylactic treatment options.
To learn more about how to make the most of your genetic counseling program, check out our blog post. And to learn more about the latest diagnostic and treatment innovations, along with strategies to guide your precision medicine investment strategy, register for our March 20 webconference, "Clinical Innovations in Medical Oncology."