Direct-to-Consumer Genetic Test on Hereditary Colorectal Cancer Syndrome Receives FDA Clearance

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ON JANUARY 22, 2019, 23andMe received U.S. Food and Drug Administration (FDA) clearance for a genetic health risk report on the hereditary colorectal cancer syndrome MUTYH-associated polyposis. The clearance follows the FDA’s authorization for 23andMe’s BRCA1/BRCA2 (Selected Variants) Genetic Health Risk report in March 2018. The new report was submitted to the FDA using the 510(k) submission pathway, enabled by the earlier decision on the BRCA report. These two reports are the only direct-to-consumer genetic health risk reports for inherited cancers that have been authorized or cleared by the FDA for use without prescription.

This report is not yet available, but as soon as it is ready for release, it will be offered to new 23andMe customers using the company’s Health + Ancestry service as well as existing Health + Ancestry customers who have been genotyped on the company’s most recent platforms. The FDA included both this report and 23andMe’s previously authorized BRCA1/BRCA2 report in a single regulation covering cancer predisposition risk-assessment systems.

Consumer Education

AS WITH the BRCA1/BRCA2 report, Health + Ancestry customers must choose whether they want to receive this information. As with other 23andMe Genetic Health Risk reports, this one will also include an education module to ensure customers are informed about what they can learn from this report and how to interpret the results, as well as its limitations.

For example, information associated with this report will clearly state that hereditary colorectal cancers account for about 5% of all colorectal cancer cases. Additionally, this report does not look at variants associated with the most common form of inherited colorectal cancer, Lynch syndrome. The two variants included account for the majority (approximately 80%–90%) of MUTYH variants in people of Northern European descent. However, more than 100 variants in the MUTYH gene are known to be linked to MUTYH-associated polyposis.

The two variants included in 23andMe’s MUTYH-Associated Polyposis Genetic Health Risk report are most prevalent in people with Northern European ancestry, at between 1% and 2%. These variants have also been found in people of other ethnicities. Carrying both of these variants or having two copies of one of these variants increases the risk of developing colorectal cancer.

If left unchecked, carrying both of these variants or having two copies of one of these variants increases the risk of developing colorectal cancer to between 43% and 100%. The risk for those who have one variant alone is uncertain; however, some studies suggest that the colorectal cancer risk may be slightly increased, particularly for those with a family history of colorectal cancer.

FDA 510(k) Submission Pathway

THE FDA clearance for 23andMe’s MUTYH-Associated Polyposis Genetic Health Risk report demonstrates substantial equivalence, through the FDA’s 510(k) submission pathway, to its predicate device 23andMe’s BRCA1/ BRCA2 (Selected Variants) Genetic Health Risk report. For this newest clearance, the MUTYH-associated polyposis report achieved more than 99% accuracy and utilization of key informational concepts that achieved 90% or greater comprehension in a demographically diverse population.