Programmatic Considerations for Population-based Genomic Screening Implementation: An Expert-Informed Framework

Population-based genomic screening (PGS) offers significant public health potential by identifying individuals at risk for clinically actionable genetic conditions. While existing frameworks guide gene selection based on clinical actionability, defining programmatic considerations, including ethical, economic, and equity-related factors, is necessary to support population-level implementation. This review aims to develop a set of programmatic considerations to guide PGS implementation decisions.

Using a structured, three-step deliberative process aligned with development of the Clinical Genome Resource (ClinGen) PGS Actionability Framework, multidisciplinary experts in public health genomics, clinical genetics, genetic counseling, ethics, health economics, and implementation science identified and refined key programmatic domains relevant to PGS implementation.

Eight programmatic consideration domains were identified: (1) Program Evaluation, (2) Justice, (3) Feasibility, (4) Acceptability, (5) Respect for Autonomy, (6) Population-Level Costs, (7) Analytic Validity/Test Performance, and (8) Program Management. Each domain was defined and accompanied by guiding questions to support implementation planning, addressing critical gaps by incorporating population-level concerns such as equity, sustainability, and public trust.

These programmatic considerations provide essential contextual guidance to support ethical and effective implementation of PGS programs. Used alongside gene-level actionability frameworks, they can inform how screening programs are designed, operationalized, and evaluated to better align genomic medicine with population health priorities.