"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.

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 Undiagnosed Diseases Network (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 being 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 and facilitate their participation. Future research should explore these issues in other genomics research studies and identify practical approaches to mitigating barriers to and employing facilitators of disability-related research participation.