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Applying health equity implementation science frameworks to population genetic screening.

Nandana D Rao1, Stephanie M Fullerton2, Brian H Shirts1,3

  • 1Institute for Public Health Genetics, University of Washington, Seattle, WA, United States.

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|December 6, 2024
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Summary

Implementation science frameworks can guide equitable population genetic screening. These frameworks focus on underserved groups and local adaptation, but need refinement for later screening stages.

Keywords:
genetic testinghealth equityhereditary cancerimplementation sciencepopulation genetic screening

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Area of Science:

  • Health Services Research
  • Genetics
  • Implementation Science

Background:

  • Health equity is crucial for new healthcare interventions.
  • Implementation science frameworks aim to reduce health disparities.

Purpose of the Study:

  • To explore the applicability of health equity-focused implementation science frameworks for population genetic screening programs.
  • To identify how these frameworks can guide equitable implementation across screening stages.

Main Methods:

  • Systematic search of PubMed and reference lists for relevant frameworks.
  • Assessment of framework guidance for population genetic screening stages (recruitment, sample collection, results, follow-up, cascade screening).
  • Synthesis of findings into health equity considerations.

Main Results:

  • Five health equity-focused implementation frameworks were identified.
  • Frameworks varied by type: determinant, process, and evaluation.
  • Common strategies included targeting underserved populations, local adaptation, and community partnerships (for process models).

Conclusions:

  • Existing frameworks offer broad guidance for equitable population genetic screening.
  • Gaps remain in guidance for later stages of genetic screening.
  • Utilizing frameworks and compiled equity considerations can improve equitable implementation.