希少疾患ゲノム研究へのアクセス向上と多様な視点の理解のための公平性重視の実装

Rare disease genomic research suffers from a lack of diverse participation. We therefore implemented and evaluated a multi-faceted intervention to support recruitment of populations previously-underrepresented by race, ethnicity, primary language, household income, education level, or rural residence to the Rare Genomes Project (RGP).

For a prospective cohort, we tracked completion of our enrollment processes supported by interventions including clinician engagement, language support, proactive and flexible participant contact, and use of mobile phlebotomy. Participants were offered a survey upon enrollment to assess values and priorities.

161/195 (83%) participants completed enrollment. High-yield interventions included clinician referral forms and increased staff assistance. Genome sequencing data has been generated for 133 participants, with a diagnosis found for 17 (13%) and candidate for 23 (17%) thus far. Most diagnosed participants (13/17, 76%) benefited from clinician rather than self-referral. Perceived importance of a genetic diagnosis was ranked very/extremely high for 81/96 (84%) of participants. Spanish primary language was associated with higher perceived importance and high income with lower perceived importance, although only income remained significant in a multivariable model.

Overall, our equity-focused initiative enabled enrollment of participants from populations previously underrepresented in rare disease genomic research and offers insight into potential motivators.