Returning Actionable Genomic Results in a Research Biobank

Research biobanks and other human research studies that collect and analyze DNA are increasingly confronted with the question of whether and how to return actionable genomic results to individual participants (gRoR). A majority of research participants and researchers favor returning such results to participants, and many research studies that collect genomic data have written policies encouraging the return of actionable genomic results to participants (gRoR). Yet the vast majority of such studies in the US and around the world have not implemented gRoR.

Over 100 million research participants around the world have had research array-based genotyping (GT) or genome sequencing (GS), but only a small fraction of these have been offered a return of actionable genomic findings (gRoR). Between 2017 and 2021, researchers from the Mass General Brigham Biobank analyzed genomic results from 36,417 participants and offered to confirm and return pathogenic and likely pathogenic variants (PLPVs) in 59 genes.

Read this paper that provides data about logistical details around gRoR that could help other investigators planning to return genomic results.

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