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Published on: August 17, 2022
What it Takes to Implement Population-Based Genomic Screening: A Multi-Site Qualitative Study of Implementation
Caitlin G Allen1, Deborah Cragun2, Miranda Hallquist3
1Wake Forest University School of Medicine.
Research Square
|May 25, 2026
Summary
Implementing population-based genomic screening (PGS) requires addressing phase-specific challenges. Early stages need financing and prioritization, while later stages benefit from partnerships and sustained engagement for successful hereditary condition risk identification.
Area of Science:
- Genomics
- Healthcare Implementation Science
- Public Health
Background:
- Population-based genomic screening (PGS) offers potential for identifying individuals at high risk for hereditary conditions.
- Lack of implementation guidance hinders the scalability and impact of PGS programs.
- This study explored facilitators and barriers to PGS implementation across different healthcare settings and implementation phases.
Purpose of the Study:
- To identify facilitators and barriers to population-based genomic screening (PGS) implementation.
- To understand how these factors vary across different phases of PGS adoption (pre-adoption, implementing, sustaining).
- To inform the development of effective implementation strategies for PGS programs.
Main Methods:
- Conducted qualitative interviews with 34 implementation team members across 10 PGS sites.
- Sites were categorized into pre-adoption, implementing, and sustaining phases.
- Utilized the Consolidated Framework for Implementation Research (CFIR) 2.0 for coding and analysis, visualized with a data matrix heat map.
Main Results:
- Pre-adoption sites faced barriers in financing, institutional priority, workflow complexity, and genomic knowledge.
- Implementing sites struggled with workflow/infrastructure development and clinical capacity but were aided by partnerships and leadership.
- Sustaining sites contended with persistent knowledge gaps and resource strain but benefited from strong partnerships and leadership engagement.
Conclusions:
- PGS implementation involves phase-specific challenges and evolving facilitators.
- Financing and institutional prioritization are key for initial adoption, while partnerships and relationships are crucial for sustained implementation.
- Adaptive, phase-specific strategies are necessary to overcome barriers like policy constraints and knowledge gaps, emphasizing dynamic implementation approaches.
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