The 100,000 Genomes Project is a hybrid clinical and research project in which patients and parents are offered genome sequencing for cancer and rare and inherited disease diagnosis; all participants receive their main findings and contribute their data for research, and are offered optional secondary findings. Our aim was to explore participating parents' attitudes towards and understanding of genome sequencing in this hybrid context. We conducted in-depth telephone interviews with 20 parents of children with rare diseases participating in the 100,000 Genomes Project. Parents were positive about contributing to research, although some had needed reassurance about data protections. Although most felt positive about secondary findings, some could not recall or misunderstood key aspects. Some were also concerned about potential emotional impact of results and a few raised concerns about life insurance implications, and the impact of future legal changes. Participants were generally positive about consent appointments, but several raised concerns about 'information overload' because of deciding about secondary findings at the same time as about the main diagnostic genome sequencing and data contribution. Additional information resources, particularly online tools, were highlighted as potentially useful ways of supporting the consent process. We conclude that parents offered genome sequencing as part of a national hybrid clinical and research project report many positive attitudes and experiences, but also concerns and misunderstandings. Further research is needed on how best to support informed consent, particularly about secondary findings. Additional resources such as online tools might usefully support future genome sequencing consent processes.

中文翻译：

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父母对基因组测序的动机，关注和理解：定性访谈研究。

100,000个基因组计划是一个混合的临床和研究项目，为患者和父母提供癌症，罕见病和遗传病诊断的基因组测序；所有参与者都会收到他们的主要发现，并为研究提供数据，并为他们提供可选的次要发现。我们的目的是在这种混合背景下探索参与的父母对基因组测序的态度和理解。我们对参加100,000个基因组计划的20名罕见疾病儿童的父母进行了深入的电话采访。尽管有些家长需要保证数据保护，但家长们对为研究做出贡献持积极态度。尽管大多数人对次要发现感到乐观，但有些人却不记得或误解了关键方面。一些人还担心结果可能带来的情感影响，还有一些人担心人寿保险的影响以及未来法律变更的影响。参与者对同意任命总体上是积极的，但是一些参与者对“信息超载”表示担忧，因为他们在决定主要诊断基因组测序和数据贡献的同时确定了次要发现。强调了其他信息资源，尤其是在线工具，是支持同意过程的潜在有用方法。我们得出的结论是，作为国家混合临床和研究项目的一部分，父母提供了基因组测序的报告，报告提出了许多积极的态度和经验，但也存在关注和误解。需要进一步研究如何最好地支持知情同意，特别是关于次要发现。诸如在线工具之类的其他资源可能会有用地支持未来的基因组测序同意过程。