Returning Genomic Findings to Biobank Participants Informs Unrecognized Disease Risks

Informing biobank and genomic study participants about whether they are carriers of genetic variants linked to increased disease risk can help identify a significant minority at risk of future diseases such as cancer and heart disease, show results from the Massachusetts General Brigham Biobank.

The study, which was published in the American Journal of Human Genetics, used both array-based genotyping and genome sequencing to detect pathogenic and likely pathogenic variants (PLPVs) in around 2.5% of those tested.

Notably, genome sequencing was more accurate at picking up these variants. Standard genotyping methods incorrectly identified PLPVs in 45% of samples and failed to pick up variants in 72% of a subset of samples compared directly with genome sequencing.

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