An article published in JAMA outlined both the advantages and potential pitfalls of approval by the US Food and Drug Administration (FDA) for the marketing of BRCA mutation genetic testing. The approval was granted to 23andMe and allows the company to advertise direct-to-consumer testing for 3 BRCA mutations that identify women at an increased lifetime risk for breast cancer.
According to the article, 23andMe referred to the FDA decision as a “milestone in consumer health empowerment.” Using the $199 test, women are able to test at home and receive results within 6 to 8 weeks rather than having to seek genetic testing from medical professionals.
However, the ease of at-home testing comes with disadvantages. It is possible that fewer women will seek traditional genetic counseling, relying on the results of the 23andMe test, which could be false. In the case of a false positive, women may think there is a problem where one does not really exist, and with a false negative, women may not seek necessary further testing or preventive measures.
Most women who exhibit BRCA mutations are of Ashkenazi Jewish descent (2% of the population vs 0%-0.1% of the general population). Broadly advertising the direct-to-consumer test will likely result in a large number of women using the test who are at a low risk for BRCA mutations.
In 2002, Myriad Genetics ran an advertising campaign for direct-to-consumer testing for BRCA mutations. As a result of the campaign, there was a 244% increase in referrals for genetic counseling, yet 52% of the women seeking counseling were at low risk. During the previous year, only 31% the 100 referrals had been considered to be at low risk. Because the harm of overtesting was unknown, the US Preventive Services Task Force recommended that women without risk factors should not be tested.
Although the new 23andMe test allows ease of testing and will make the service available to more women, there is the significant possibility of overtesting an inappropriate population and of testing that leads to false results.
Gill J, Obley AJ, Prasad V. Direct-to-consumer genetic testing. The implications of the US FDA’s first marketing authorization for BRCA mutation testing [published online May 18, 2018]. JAMA. doi:10.1001/jama.2018.5330