To address disparities in genomic testing access among underserved populations in South Carolina.
Approach:
Program Implementation: The program aimed to provide free DNA tests to 100,000 individuals, ensuring representation across all counties and communities with varying social disadvantages.
Participant Recruitment: Eligible individuals were recruited via electronic health records and could provide specimens in various settings, including community events.
Support Services: Participants with relevant variants were offered genetic counseling and access to condition-specific resources, while those who declined received a gene guide.
Monitoring and Assessment: An informatics infrastructure was established, including a web-based data visualization platform, to monitor program enrollment and test completion using the RE-AIM framework.
Key Findings:
Low uptake of genomic tests among rural and underserved populations despite policy implementation.
Demographic data collection is critical for assessing program effectiveness and reach.
The dashboard developed for monitoring was co-designed with participants and provided valuable insights.
Interpretation:
The program highlights the importance of equitable representation in health care and genetic testing, but lacks detailed outcomes on follow-up care and broader health assessments.
Limitations:
No detailed outcomes on follow-up processes or adherence to care pathways were provided.
The program did not appear to reach out to first-degree relatives of participants for enrollment in care pathways.
Conclusion:
Further research is needed to evaluate the effectiveness and broader health impacts of the program.
