Applying health equity implementation science frameworks to population genetic screening

Implementation science frameworks with a focus on health equity have emerged to help guide the introduction of new interventions into healthcare and community settings while limiting health disparities. The purpose of this research was to explore the applicability of such frameworks to guide the equitable implementation of population genetic screening programs.

We searched PubMed and reference lists for relevant frameworks and examples of their use in health settings. We then assessed if and how selected frameworks provide guidance for different stages of population genetic screening: recruitment, sample collection, result return, follow-up care and long-term management, and cascade screening. Findings were synthesized into a list of health equity considerations specific to each stage.

We identified 5 implementation frameworks that focus on health equity. Guidance varied by framework type: determinant (explaining what affects implementation outcomes), process (translating research into practice), or evaluation (assessing implementation). Common characteristics included focusing implementation efforts on populations who have historically experienced health inequities and adapting interventions to fit local contexts. Process models also highlighted the importance of community partnerships.

Overall, frameworks offered broad recommendations applicable to population genetic screening program implementation. However, gaps still exist in guidance provided for later stages of population genetic screening. To improve the equitable implementation of genetic screening, future programs may benefit from utilizing one or more of these frameworks or by incorporating the health equity considerations and outcomes compiled in this analysis.