Accepted for/Published in: JMIR Research Protocols
Date Submitted: Mar 11, 2025
Open Peer Review Period: Mar 12, 2025 - May 7, 2025
Date Accepted: Jul 25, 2025
(closed for review but you can still tweet)
Facilitating the Implementation of Population-wide Genomic Screening across Diverse Populations and Settings (FOCUS): A Protocol for an Implementation Mapping Study to Identify Best Practices for Implementing Population-wide Genomic Screening Programs
ABSTRACT
Background:
Population-wide genomic screening (PGS) for genetic conditions such as Hereditary Breast and Ovarian Cancer Syndrome, Lynch Syndrome, and Familial Hypercholesterolemia presents opportunities to reduce morbidity and mortality among the 1-2% of the population at elevated risk for these serious, preventable diseases. With decreasing sequencing costs and growing support from national bodies, there are increasing numbers of PGS programs in the US. However, guidelines and strategies to support implementation are limited, especially regarding equitable access to PGS. Contextual factors, such as organizational structures and processes impact PGS implementation, often failing to benefit underrepresented populations.
Objective:
To address these challenges, we are completing the FOCUS project, which will develop and test a freely available, equity-centered online implementation toolkit to guide best practices for implementing PGS.
Methods:
The FOCUS project aims to 1) examine barriers and facilitators of equitable PGS implementation at sites at various stages of implementation, 2) develop implementation strategies with input from a diverse advisory panel and package them into the FOCUS toolkit, and 3) evaluate the toolkit's impact on improving PGS reach, effectiveness, adoption, and maintenance using a hybrid stepped-wedge cluster randomized trial design.
Results:
Results:
This project was funded in 8/2024 per the funding acknowledgement. Implementation Team Member (ITM) data collection began in 10/2024 and Patient (PAT) data collection began in 1/2025. As of 3/2025, we have enrolled 9 PAT subjects and 32 ITM subjects. Of these 32 ITM subjects, we have completed qualitative data analyses on 18 of them in accordance with our described methods for Study Aim 1.
Conclusions:
With a focus on health equity and stakeholder engagement, the FOCUS toolkit will establish a standardized approach to scaling PGS programs across diverse populations and settings, ensuring genomics benefits are accessible to all.
Citation
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