'Somebody to find an answer, so I can sleep at night': Diverse Perspectives on Genomic Research for Rare Disease
- 1Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA; Divisions of Newbo
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.
Related
- Genomic Research as a Critical Pathway to Diagnosis for Individuals with Rare Disease
- Genomic Characterization of Clinical Staphylococcus aureus Isolates from Ecuador Reveals Diverse Lineages and Genomic Similarity Among Sequence Type 2625 Isolates
- When to return genomic newborn screening results: health care professional perspectives
- Alzheimer’s Disease Neuropathology Plasma Biomarkers and Cognition in a Midlife Diverse Community-Based Cohort
- Functional Brain Imaging in Knee Osteoarthritis: A Bibliometric Analysis of Research Trends and Emerging Clinical Perspectives
BibTeX
@misc{neale2026somebody,
title = {{'Somebody to find an answer, so I can sleep at night': Diverse Perspectives on Genomic Research for Rare Disease}},
author = {A. Neale and J. O. Durigan and H. S. Smith and Y. S. Smith and S. Abouhala and E. Martinez and H. L. Rehm and A. O'Donnell-Luria and M. O'Leary and M. H. Wojcik},
howpublished = {medRxiv},
year = {2026},
month = oct,
doi = {10.64898/2026.10.23.26366105},
url = {https://www.medrxiv.org/content/10.64898/2026.10.23.26366105v1},
note = {CC BY},
}
RIS
TY - UNPB
TI - 'Somebody to find an answer, so I can sleep at night': Diverse Perspectives on Genomic Research for Rare Disease
AU - A. Neale
AU - J. O. Durigan
AU - H. S. Smith
AU - Y. S. Smith
AU - S. Abouhala
AU - E. Martinez
AU - H. L. Rehm
AU - A. O'Donnell-Luria
AU - M. O'Leary
AU - M. H. Wojcik
PY - 2026
DA - 2026/10/23
PB - medRxiv
DO - 10.64898/2026.10.23.26366105
UR - https://www.medrxiv.org/content/10.64898/2026.10.23.26366105v1
AB - 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.
ER -