“It’s being part of the big picture, even though you’re a tiny jigsaw piece”—motivations and expectations of individuals participating in the Enroll-HD observational study

摘要

Predictive test guidelines for Huntington’s disease (HD) recommend individuals are offered opportunities to participate in research regardless of test outcome. Consistent with most HD centres of excellence, the Manchester Centre for Genomic Medicine (MCGM) invites eligible individuals to participate in the observational study, Enroll-HD. Limited research has been conducted to date on the views of research participants and the possible impact of participation. The aim of this qualitative study was to explore the experiences of ten individuals taking part in the Enroll-HD study following pre-symptomatic testing for HD. Half of the individuals had tested positive for the HD mutation and the other half had tested negative. Participants were generally motivated to take part in the study by both personal and altruistic reasons. Overall, they were very positive about participation in Enroll-HD. Valuable aspects included good relationships with the research/clinical team, increased understanding of the condition, an enhanced self-image and a shared experience with affected parents. Issues for improvement to encourage participation included access to study site and more regular communication about study progress. Participants, while generally optimistic about research progress, were realistic about challenges.