Objective:

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.

Sources:

• Sonawane et al.