23andMe Granted New FDA Clearance to Report Additional BRCA Variants

Posted on September 01, 2023

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Source: 23andMe

23andMe Holding Co. has received U.S. Food and Drug Administration (FDA) 510(k) clearance to expand its existing BRCA1/BRCA2 (Selected Variants) Genetic Health Risk Report*. The clearance allows 23andMe to report an additional 41 variants in the BRCA1 and BRCA2 genes known to be associated with higher risk for breast, ovarian, prostate and pancreatic cancer. 23andMe received the first FDA authorization for a direct-to-consumer genetic test for cancer risk in 2018 to report 3 variants in the BRCA1 and BRCA2 genes, primarily found in people of Ashkenazi Jewish descent. Many of the 41 BRCA variants added through this clearance are known to have a higher rate of occurrence in populations traditionally underserved by genetic testing, including the African American and Hispanic/Latino communities. This marks the Company’s fourth FDA clearance for genetic cancer risk.

In addition to the 510(k) clearance, the FDA also granted 23andMe the first-ever Predetermined Change Control Plan (PCCP), which allows the Company to add additional validated BRCA1 and BRCA2 variants and associated cancer risk information to its BRCA1/BRCA2 (Selected Variants) report without additional premarket review. The PCCP outlined the specific protocols and acceptance criteria that 23andMe intends to use to clinically and analytically validate eligible BRCA1/BRCA2 variants. The PCCP is pursuant to the FDA's "Marketing Submission Recommendations for a Predetermined Change Control Plan for Artificial Intelligence/Machine Learning Enabled Device Software Functions” Guidance announced this spring.

23andMe will now report on 44 variants in the BRCA1 and BRCA2 genes associated with a significantly higher risk of breast and ovarian cancer in females, and breast cancer in males. The variants may also be associated with an increased risk for prostate cancer, pancreatic cancer, and potentially other cancers. In addition to 3 BRCA variants common among people of Ashkenazi Jewish descent, the updated 23andMe BRCA report will now include variants accounting for about 30-40% of cancer-related BRCA variants among people of African American, non-Ashkenazi European and Hispanic/Latino descent; as well as variants found of people of East Asian and South Asian.

BRCA variants indicated in the 510(k) clearance:
The 23andMe Personal Genome Service (PGS) Genetic Health Risk Report for BRCA1/BRCA2 (Selected Variants) is indicated for the reporting of the following 44 variants in the BRCA1 and BRCA2 genes.

BRCA1: c.68_69del, c.213-11T>G, c.427G>T, c.815_824dup, c.1556del, c.1687C>T, c.1960A>T, c.1961del, c.2681_2682del, c.2864C>A, c.3481_3491del, c.3598C>T, c.3627dup, c.3756_3759del, c.3770_3771del, c.4035del, c.4065_4068del, c.4327C>T, c.4357+1G>A, c.4964_4982del, c.4986+6T>G, c.5123C>A, c.5177_5180del, c.5266dup.

BRCA2: c.658_659del, c.771_775del, c.1929del, c.2808_2811del, c.2957_2958insG, c.3170_3174del, c.3264dup, c.3545_3546del, c.3847_3848del, c.4471_4474del, c.5542del, c.5576_5579del, c.5682C>G, c.5946del, c.6037A>T, c.6275_6276del, c.7024C>T, c.7480C>T, c.7934del, c.8904del.