Unraveling non‐participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors

Abstract

Although genomic research offering next‐generation sequencing (NGS) has increased the diagnoses of rare/ultra‐rare disorders, populations experiencing health disparities infrequently participate in these studies. The factors underlying non‐participation would most reliably be ascertained from individuals who have had the opportunity to participate, but decline. We thus enrolled parents of children and adult probands with undiagnosed disorders who had declined genomic research offering NGS with return of results with undiagnosed disorders (Decliners, n = 21) and compared their data to those who participated (Participants, n = 31). We assessed: (1) practical barriers and facilitators, (2) sociocultural factors—genomic knowledge and distrust, and (3) the value placed upon a diagnosis by those who declined participation. The primary findings were that residence in rural and medically underserved areas (MUA) and higher number of barriers were significantly associated with declining participation in the study. Exploratory analyses revealed multiple co‐occurring practical barriers, greater emotional exhaustion and research hesitancy in the parents in the Decliner group compared to the Participants, with both groups identifying a similar number of facilitators. The parents in the Decliner group also had lower genomic knowledge, but distrust of clinical research was not different between the groups. Importantly, despite their non‐participation, those in the Decliner group indicated an interest in obtaining a diagnosis and expressed confidence in being able to emotionally manage the ensuing results. Study findings support the concept that some families who decline participation in diagnostic genomic research may be experiencing pile‐up with exhaustion of family resources – making participation in the genomic research difficult. This study highlights the complexity of the factors that underlie non‐participation in clinically relevant NGS research. Thus, approaches to mitigating barriers to NGS research participation by populations experiencing health disparities need to be multi‐pronged and tailored so that they can benefit from state‐of ‐the art genomic technologies.

The power of representation: Statistical analysis of diversity in US Alzheimer's disease genetics data

“…All efforts to classify participants by race and/or ethnicity create large, heterogeneous, and imprecise groups. Racial/ethnic categorizations are poor proxies of environmental factors, and there are myriad socio‐cultural and environmental differences within racial/ethnic groups that impact recruitment and participation 21 . One way to better address these diverse concerns is through community‐based participatory research (CBPR).…”

“…Racial/ethnic categorizations are poor proxies of environmental factors, and there are myriad socio‐cultural and environmental differences within racial/ethnic groups that impact recruitment and participation. 21 One way to better address these diverse concerns is through community‐based participatory research (CBPR). CBPR engages community stakeholders as peers in all stages of the study from design to dissemination of results.…”

“…Our study is based on previous data collection efforts, and the demographics reported in previous studies are typically socio‐political categorizations in adherence with US Office of Management and Budget (OMB) standards 20 . Furthermore, because genetic ancestry is not known at the time of recruitment, and barriers and willingness to participate in genetic research are more closely related to social and environmental differences, using social categorization when describing participants is more relevant for future applications 21 . When the studies contributing to our work describe procedures of using genetic ancestry information to filter participants, such as using principal components, we will describe the genetic reference used for filtering in addition to the self‐reported or ascribed racial/ethnic categorization used for recruitment (i.e., EUR = non‐Hispanic White individuals who cluster with 1KG European ancestry groups).…”