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Exploring broad consent in the context of the 100,000 Genomes Project: a mixed methods study.
European Journal of Human Genetics ( IF 3.7 ) Pub Date : 2020-01-09 , DOI: 10.1038/s41431-019-0570-7
Lisa M Ballard 1 , Rachel H Horton 1 , Sandi Dheensa 2 , Angela Fenwick 1 , Anneke M Lucassen 1
Affiliation  

The 100,000 Genomes Project (100kGP)-a hybrid clinical-research initiative-was set up to analyse whole-genome sequences (WGS) from patients living with a rare disease or cancer. The project positioned participant consent as being of central importance, but consent in the context of genomic testing raises challenging issues. In this mixed method study, we surveyed 1337 100kGP participants regarding their experiences of taking part in the project and conducted in-depth interviews with 24 survey respondents to explore these findings further. Survey responses were analysed using descriptive statistics and interview data were analysed thematically. The consent approach of the 100kGP resulted in a proportion of our study's participants not understanding the complexities of the project and what types of results they might receive; for example, 20% of participants who we surveyed from the cancer arm did not recall what decisions they had made regarding additional findings. It is not surprising that a project such as this, with such diverse aims and participant groups, would throw up at least some challenges. However, participants reported being satisfied with their experience of the project to date. Our study highlights that in the context of consent for more complex endeavours, such as the 100kGP, it is important to assess (and document) an agreement to take part, but complicated decisions about what and when to communicate may need revisiting over time in response to changing contexts. We discuss the implications of our findings with reference to participants of the 100kGP and the newly formed NHS Genomic Medicine Service.

中文翻译:

在100,000个基因组计划的背景下探索广泛的同意:一项混合方法研究。

100,000基因组计划(100kGP)是一项混合型临床研究计划,旨在分析患有罕见疾病或癌症的患者的全基因组序列(WGS)。该项目将参与者的同意置于至关重要的位置,但是在基因组测试的背景下,同意提出了具有挑战性的问题。在此混合方法研究中,我们对1337名100kGP参与者参与该项目的经历进行了调查,并与24名受访者进行了深入访谈,以进一步探索这些发现。使用描述性统计数据对调查回复进行了分析,并对访谈数据进行了主题分析。100kGP的同意方法导致一部分研究参与者不了解项目的复杂性以及他们可能会收到什么类型的结果;例如,我们从癌症部门进行调查的参与者中有20%不记得他们对其他发现做出的决定。诸如此类的目标和参与者群体如此多样化的项目至少会提出一些挑战也就不足为奇了。但是,与会人员表示对迄今为止的项目经验感到满意。我们的研究强调,在同意更复杂的工作(例如100kGP)的情况下,评估(和记录)参与协议非常重要,但是随着时间的流逝,关于沟通内容和沟通时间的复杂决策可能需要重新审视适应不断变化的环境。我们将参考100kGP和新成立的NHS基因组医学服务的参与者,讨论我们发现的意义。
更新日期:2020-01-09
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