'Somebody to find an answer, so I can sleep at night': Diverse Perspectives on Genomic Research for Rare Disease

Equitable engagement strategies for rare disease genomic research are informed by 41 semi-structured interviews, yielding four themes about access, community benefit, flexibility, and relational continuity.

• Why it matters: Rare disease genomic research is limited by underrepresentation of minoritized populations, creating gaps in equitable participant engagement and access to genomic sequencing.
• What they did: The study interviewed 25 Rare Genomes Project participants and 16 clinicians who referred underrepresented applicants, then analyzed all 41 interviews to identify four primary themes.
• The result: Findings suggest that linking research with clinical care, treating participation as a community resource, using flexible processes, and maintaining longitudinal relational continuity can strengthen engagement and equity.