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Population Genomics for Stroke: Return of Results, Cascade Testing, and Health System Readiness from Bench-to-Population Perspectives

Author: Nyiramana Mukamurera P.
Publisher: RESEARCH INVENTION JOURNAL OF PUBLIC HEALTH AND PHARMACY
Published: 2026
Section: Faculty of Clinical Medicine and Dentistry

Abstract

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-to
population 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.