Fostering trust in healthcare: Participants' experiences, views, and concerns about the 100,000 genomes project
Fostering trust in healthcare: Participants' experiences, views, and concerns about the 100,000 genomes project
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DOI：
10.1016/j.ejmg.2018.11.024
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发表时间：
2019-05-01
影响因子：
1.9
通讯作者：
Fenwick, Angela
中科院分区：
文献类型：
--
作者：
Dheensa, Sandi;Lucassen, Anneke;Fenwick, Angela
在本文中，我们介绍了一项涉及 20 名罕见疾病患者或其父母参与 100,000 基因组计划 (100 kG P) 的项目的结果。我们探讨了他们对该项目的经历和看法，包括他们参与的原因，以及他们对基因组医学未来的希望和担忧。前往基因诊所进行检测的患者如果同意参加 100 kGP，将有机会接受更广泛的全基因组测序 (WGS)。一旦人们同意，就会为他们安排专门的额外预约。因此，参加该项目需要额外的旅行和预约（“临床劳动”）。我们发现，受访者决定参加 100 kG P 是基于人际和机构对 NHS 的信任，以及对改善未来护理的投资。受访者依靠接受良好的持续 NHS 护理来管理自己或孩子的罕见疾病，但他们担心未来与 NHS 医疗保健专业人员的关系会是什么样子。一些与会者担心 Genomics England 的生物样本库是否会继续受到保护并成为 NHS 的资产。因此，为了尊重和培养参与者的信任（这种信任很容易失去）以及他们的临床劳动，我们建议持续进行公众参与和咨询，了解基因组学如何在新成立的 NHS 基因组医学服务中更广泛地跨专业整合（特别是考虑到 NHS 目前的资金和人员配置限制）。
In this paper, we present findings from a project involving 20 patients with rare diseases, or parents thereof, participating in the 100,000 genomes project (100 kG P). We explored their experiences of, and views about, the project, including why they took part, and their hopes and concerns about the future of genomic medicine. Patients who attended genetic clinics for testing were offered the opportunity to undergo the more extensive whole genome sequencing (WGS) if they agreed to take part in the 100 kG P. Once people had agreed, a specific additional appointment was organised for them. Taking part in the project therefore involved additional travel and appointments ('clinical labour'). We found that interviewees' decisions to participate in 100 kG P were based on interpersonal and institutional trust in the NHS, and on an investment in improving care for the future. Interviewees relied upon receiving good ongoing NHS care for managing their own or their child's rare disease, but they worried about what their relationships with NHS healthcare professionals would be like in future. A few participants worried about whether Genomics England's biorepository would remain protected and an asset of the NHS. To honour and foster participants' trust - which may easily be lost - and their clinical labour, we therefore recommend ongoing public engagement and consultation about how genomics is being integrated more widely across specialties (especially given current funding and staffing constraints in the NHS) within the newly formed NHS Genomic Medicine Service.