"It didn't feel like anything unusual because we had already been through so much": Disability-Related Research Experiences of Families with Children Enrolled in the Undiagnosed Diseases Network.

Authors

Kevin T Mintz, Elisa N Altamirano, Meghan C Halley, Krysta S Barton, Mildred K Cho, Jonathan A Bernstein, Jennefer N Carter, Undiagnosed Diseases Network, Holly K Tabor

Published in

Genetics in medicine : official journal of the American College of Medical Genetics. Pages 102663. Jul 13, 2026. Epub Jul 13, 2026.

Abstract

In recent years, researchers have brought attention to the underrepresentation of people with disabilities in biomedical research, including genomics research. However, little is known about how disability-related experiences influence participation in rare disease research. This omission is striking, because rare diseases are associated with disabling phenotypes that affect multiple body systems. As part of a study interrogating the relationship between rare disease status and disability identity, we conducted mixed-methods research to address this knowledge gap.
Parents of children enrolled in the UDN (n=25) completed semi-structured interviews to assess disability-related experiences in research participation. Directed content analysis was used to identify common themes.
Participants' disability-related research experiences were characterized by: 1) disability-related facilitators to research participation, including benefits of research participation and disability-conscious approaches; 2) disability-related logistical barriers to research participation; and 3) research procedures, and the perception of research as minimally burdensome relative to clinical encounters.
Parents of children in the UDN make considerable investments of time and resources to accommodate their children's disabilities to facilitate their participation. Future research should explore these issues in other genomic research studies and practical approaches to mitigating barriers and employing facilitators to disability-related research participation.

PMID:
42439107
Bibliographic data and abstract were imported from PubMed on 13 Jul 2026.

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