NIH workshop updates guidance on returning genomic findings to research participants
A 2024 National Heart, Lung and Blood Institute workshop produced new recommendations for returning secondary genomic findings from observational cohort studies, published in Nature Genetics. The guidance covers polygenic risk scores, somatic mosaicism, and pharmacogenomic results, areas where prior recommendations were limited. It builds on a 2010 National Heart, Lung and Blood Institute Working Group framework and a 2014 Clinical Sequencing Exploratory Research/Electronic Medical Records and Genomics floor-and-ceiling model. The paper addresses four areas: an integrated ethical framework for observational cohorts, novel result types beyond monogenic variants, health equity and community engagement as structural prerequisites, and scalability challenges including technology-assisted disclosure.
The framework helps researchers balance obligations to participants with their autonomy while ensuring equitable access to genomic research benefits.
Written by the Genomes desk from the primary source cited and linked above and checked against it. Research use only; not medical advice. Corrections: [email protected].