"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
"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
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DOI：
10.1007/s12687-020-00459-3
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发表时间：
2020-03-10
影响因子：
1.9
通讯作者：
MacLeod, R.
中科院分区：
文献类型：
--
作者：
Davies, E.;Craufurd, D.;MacLeod, R.
亨廷顿病（HD）的预测性检测指南建议，无论检测结果如何，都应向个人提供参与研究的机会。与大多数HD卓越中心一致，曼彻斯特基因组医学中心（MCGM）邀请符合条件的个人参加观察性研究Enroll-HD。迄今为止，对研究参与者的意见和参与可能产生的影响进行了有限的研究。本定性研究的目的是探索参与入组HD研究的10名个体在HD症状前检测后的经验。一半的人检测出HD突变呈阳性，另一半检测出阴性。参与者通常是出于个人和利他主义的原因而参与研究的。总体而言，他们对参与Enroll-HD非常积极。有价值的方面包括与研究/临床团队的良好关系，增加对病情的了解，增强自我形象以及与受影响的父母分享经验。鼓励参与的改进问题包括进入研究中心和更定期地沟通研究进展。与会者虽然普遍对研究进展持乐观态度，但对挑战持现实态度。
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.