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

Abstract

Purpose: Rare disease genomic research suffers from the underrepresentation of minoritized populations. We therefore sought to elucidate equitable strategies for participant engagement in rare disease genomic research. Methods: Eligible participants had previously applied to the Rare Genomes Project (RGP) and are underrepresented in genomic research by virtue of race, ethnicity, language, socio-economic status, educational level, or rural status. We also recruited clinicians who have referred potential participants to RGP. We performed semi-structured interviews with all enrollees. Results: Analysis of the 41 interviews, including 25 RGP participants and 16 clinicians, yielded four primary themes: 1) rare disease genomic research studies are intertwined with clinical care and hold potential to overcome access barriers in the clinic, with subsequent equity implications, 2) research participation functions as a rare disease community resource, offering psychosocial benefit and access to emerging science, 3) flexibility in research processes allows for increased access for diverse participants, and 4) longitudinal engagement is strengthened through relational continuity with participants and their clinical team. Conclusion: Overall, the motivators and experiences shared by clinicians and diverse participants inform effective engagement in rare disease genomic research and highlight the importance of providing equitable access to genomic sequencing for rare disease diagnosis.