ELSIcon2022 • Paper • May 31, 2022
Meghan Halley, Holly Tabor, Jennifer Young
Background: Barriers to clinical genomics research participation are particularly critical for medically underserved patients who also are undiagnosed, as participation in research may be their only pathway to receiving a potential genetic diagnosis. In order to better characterize the barriers to research participation for these patients, we interviewed racially diverse participants in a clinical genomic research study, the Undiagnosed Diseases Network (UDN), about their pathways to genomic research and their experience of participation.
Methods: We conducted semi-structured interviews with 30 diverse parents of children enrolled in the UDN. Twenty interviews were conducted in English and 10 were conducted in Spanish. Qualitative analyses were conducted on the interview transcripts to identify themes both across and within participant subgroups focused on pathways to participation.
Results: Parents self-identified as Hispanic (n=14), non-Hispanic Asian (n=4), non-Hispanic White (n=11), and multiracial (n=2). Participants varied in how they accessed clinical genomics research, with most families relying on provider-initiated referral. A smaller group of families self-initiated referral, all of whom had higher levels of education, income, and were native English-speakers. Families ranged in their expectations of their participation in genomic sequencing research, and their expectations were influenced a range of factors including cultural norms and values, primary language, and trust in physicians.
Significance: The results of this exploratory study suggest that undiagnosed patients with fewer socioeconomic resources are less likely to self-refer to clinical genomics research and also point to additional factors, beyond race ethnicity, that may shape access in diverse patient populations.