Implementation Mapping to Identify Best Practices for Implementing Population-Wide Genomic Screening Programs:...

Area of Science:

• Genomic Medicine
• Implementation Science
• Health Equity

Background:

• Population-wide genomic screening (PGS) offers significant potential to reduce morbidity and mortality for hereditary conditions like breast cancer, Lynch syndrome, and familial hypercholesterolemia.
• Increasingly, PGS programs are emerging in the US due to falling sequencing costs and supportive national guidelines.
• Equitable access to PGS remains a challenge, as organizational factors often hinder benefits for underrepresented populations.

Purpose of the Study:

• To examine barriers and facilitators impacting PGS implementation across diverse health systems.
• To develop and package implementation strategies into the FOCUS toolkit, incorporating expert and advisory panel input.
• To evaluate the FOCUS toolkit's effectiveness in enhancing the reach, adoption, and maintenance of PGS programs.

Main Methods:

• Utilizing implementation mapping guided by the Consolidated Framework for Implementation Research (CFIR) and the Reach, Effectiveness, Adoption, Implementation, and Maintenance (RE-AIM) framework, integrated with health equity principles.
• Engaging 10 design sites for barrier/facilitator identification and 12 test sites for toolkit evaluation.
• Ensuring all sites represent diverse stages of implementation: exploration, planning, implementation, and sustainment.

Main Results:

• The FOCUS project is funded through September 2024 to June 2029 by the National Human Genome Research Institute (R01HG013851-01).
• Qualitative data collection for Aim 1, including interviews with implementation teams, patients, and vendors, commenced in January 2024.
• As of reporting, 33 implementation team members, 8 patients, and 2 laboratory vendors have been interviewed, with qualitative analyses currently underway.

Conclusions:

• The forthcoming FOCUS toolkit aims to standardize the scaling of PGS programs.
• This initiative seeks to ensure that the benefits of genomic screening are equitably accessible across diverse populations and healthcare settings.