Genome sequencing (GS) will have a profound impact on the diagnosis of rare and inherited diseases in children and young people. We conducted 27 semi-structured interviews with young people aged 11–19 having GS through the UK 100, 000 Genomes Project. Participants demonstrated an understanding of the role and function of genes and DNA, however the terms ‘genome’ and ‘genome sequencing’ were less well understood. Participants were primarily motivated to take part to get a diagnosis or identify the gene causing their condition. The majority of participants understood they might not receive a diagnostic result. Most were unconcerned about data security or access, however anxieties existed around what the results might show and the potential for disappointment if the result was negative. Signing an assent form empowered young people, formalised the process and instilled a sense of responsibility for their choice to participate. Most young people (≥16 years) had consented to receive secondary findings and had come to that decision without parental influence. Our research suggests that at least some young people are capable of making informed decisions about taking part in GS, and that involving them in discussions about testing can empower them to take responsibility over healthcare decisions that affect them.

基因组测序（GS）将对儿童和年轻人中罕见和遗传性疾病的诊断产生深远影响。我们通过英国100，000基因组计划对11至19岁的年轻人进行了27次半结构化访谈。与会者展示了对基因和DNA的作用和功能的理解，但是术语“基因组”和“基因组测序”的了解较少。参加者的主要动机是参加诊断或鉴定导致其病情的基因。大多数参与者了解他们可能没有收到诊断结果。大多数人都不关心数据安全性或访问性，但是对于结果可能显示出的结果以及如果结果是否定的，可能会感到失望感到担忧。签署同意书可以增强年轻人的能力，使过程正式化，并为他们的参与选择灌输一种责任感。大多数年轻人（≥16岁）已经同意接受次要发现，并且在没有父母影响的情况下做出了这一决定。我们的研究表明，至少一些年轻人能够做出有关参加GS的明智决定，并且让他们参与有关测试的讨论可以使他们对影响他们的医疗保健决定承担责任。