Population Genomics for Stroke: Return of Results, Cascade Testing, and Health System Readiness from Bench-to-Population Perspectives
Stroke remains a leading cause of mortality and disability worldwide, with both monogenic and polygenic genetic determinants contributing to individual and population risk. Population genomics provides a transformative approach to understanding these genetic influences, enabling the identification of at-risk individuals, informing precision prevention strategies, and integrating genomic insights into health systems. This review explores the critical components of population genomics for stroke, including the return of results, cascade testing within families, ethical and governance considerations, and health system readiness for genomic medicine. Bench-topopulation translational pathways highlight the integration of genomic discoveries into clinical decision support, workforce training, and public health policy. Comparative international experiences, including programs in Canada, the UK, Iceland, and Singapore, underscore the opportunities and challenges of implementing population genomics at scale. Equitable access, privacy protection, and health economic considerations remain central to maximizing societal benefit. Future directions emphasize comprehensive population-level genomic screening, polygenic risk stratification, and the integration of multiomic and environmental data to advance precision stroke prevention and management.