23andMe Published a New BRCA Study

23andMe announced that their new BRCA study was published in Scientific Reports and is titled “Identifying Ashkenazi Jewish BRCA1/2 founder variants in individuals who do not self-report Jewish ancestry”. 23andMe says that this study could help inform the on-going discussion around broader access to BRCA genetic testing.

The study is consistent with findings from other researchers suggesting many individuals who carry BRCA risk variants slip through the cracks in current testing. A recent study by researchers at Gesinger reported that more than 80 percent of people with BRCA variant did not know they have one.

Current clinical criteria for BRCA genetic testing include having a personal or family history of cancer. Having Ashkenazi Jewish ancestry is also taken into consideration.

The new study from 23andMe included data from more than 2,800 23andMe customers who consented to participate in research. All of those individuals carry one of more of the three genetic variants in the BRCA1 and BRCA2 genes included in 23andMe’s BRCA1/BRCA2 (Selected Variants) Genetic Health Risk report that are associated with an increased risk for breast, ovarian, prostate, and certain other cancers.

The 23andMe study found that a significant number of individuals with one of the three BRCA risk variants common among Ashkenazi Jews have no known first-degree history of a BRCA-related cancer or no known Jewish ancestry.

About 44 percent of individuals who provided both ancestry and family health history information had no first-degree relative with a BRCA-related cancer, the study found.

The researchers also found that 21 percent of individuals who had one of the three Ashkenazi Jewish BRCA1 or BRAC2 founder variants did not report having Jewish ancestry. But of those individuals, more than half did have detectable Ashkenazi Jewish ancestry. In an absence of personal history of cancer, these individuals would have been unlikely to qualify for clinical genetic testing and would have been left unaware of their risk.

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