23andMe Granted FDA 510(k) Clearance to Report Additional BRCA Variants

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23andMe has announced that the company has received a 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 a higher risk of developing breast, ovarian, prostate, and pancreatic cancers. Many of the BRCA variants added through this most recent clearance are known to have a higher rate of occurrence in populations traditionally underserved by genetic testing, including the Black and Hispanic/Latino communities.

In addition to the 510(k) clearance, the FDA also granted 23andMe a 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 BRCA1/2 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.

“We continue to be the first and only company with FDA clearance to provide genetic information on cancer risk directly to consumers, without a prescription,” said Anne Wojcicki, Chief Executive Officer and Co-Founder of 23andMe. “This clearance also allows us to increase the impact and reach of our results for traditionally underserved populations, a critical long-term goal of the company. We are proud to continue pioneering a path for greater access to health information by becoming the first company to receive PCCP clearance from the FDA under this novel approach, which will enable us to increase the pace at which we improve and expand our BRCA report.”

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 three BRCA variants common among people of Ashkenazi Jewish descent, the updated 23andMe report will now include variants accounting for about 30% to 40% of cancer-related BRCA variants among people of Black, non-Ashkenazi European, and Hispanic/Latino descent, as well as variants found in people of East Asian and South Asian descent.

BRCA Variants Indicated in the 510(k) Clearance

The 23andMe Personal Genome Service 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, and 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, and c.8904del.

New and existing 23andMe Health + Ancestry Service customers who were genotyped on the company’s most recent platform will have access to the expanded BRCA1/BRCA2 (Selected Variants) report once it is updated. The company plans/expects to release this report update by the end of fiscal year 2024. As with select other Genetic Health Risk reports, customers must specifically opt-in if they want to receive this information. The report also includes an education module to ensure customers are fully informed on what they can learn from this report and how to use the results.

The 23andMe BRCA1/BRCA2 (Selected Variants) Genetic Health Risk Report utilizes the same informational concepts previously demonstrated in studies submitted to the FDA for its Genetic Health Risk reports, which were shown to have 90% or greater overall user comprehension in a demographically diverse population study. 23andMe also underwent robust analytical validation in order to meet FDA requirements to add variants to the BRCA1/BRCA2 (Selected Variants) report. Each variant tested demonstrated > 99% concordance with Sanger sequencing, and each variant tested also showed > 99% reproducibility when tested under different laboratory conditions.

The content in this post has not been reviewed by the American Society of Clinical Oncology, Inc. (ASCO®) and does not necessarily reflect the ideas and opinions of ASCO®.