Equity-focused implementation to enhance access to rare disease genomic research and understand diverse perspectives.

WHY IT MATTERS

If you or your family member has a rare disease and belongs to a group that has been underrepresented in genetic research, this work means future studies are more likely to actively recruit and support your participation, potentially leading to better understanding of your condition.

Researchers tested new ways to help more diverse groups of people join rare disease genetic studies. They used strategies like having doctors refer patients, providing language support, and bringing blood tests to people's homes. About 83% of people they tried to recruit successfully joined the study, showing these methods work well.

Equity-focused implementation to enhance access to rare disease genomic research and understand diverse perspectives. Abstract: 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. 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. In total, 161 of 195 (83%) participants completed enrollment. High-yield interventions included clinician referral forms and increased staff assistance. Genom Authors: Martinez et al. Journal: Genetics in medicine : official journal of the American College of Medical Genetics MeSH: Humans, Rare Diseases, Genomics, Female, Male, Adult, Middle Aged, Prospective Studies, Surveys and Questionnaires