The UK’s 100,000 Genomes Project has the aim of sequencing 100,000 genomes from UK National Health Service (NHS) patients while concomitantly transforming clinical care such that whole genome sequencing becomes routine clinical practice in the UK. Policymakers claim that the project will revolutionize NHS care. We wished to explore the 100,000 Genomes Project, and in particular, the extent to which policymaker claims have helped or hindered the work of those associated with Genomics England – the company established by the Department of Health to deliver the project. We interviewed 20 individuals linked to, or working for Genomics England. Interviewees had double-edged views about the context within which they were working. On the one hand, policymakers’ expectations attached to the venture were considered vacuous “genohype”; on the other hand, they were considered the impetus needed for those trying to advance genomic research into clinical practice. Findings should be considered for future genomes projects.

中文翻译：

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英国十万基因组计划：体现政策制定者的期望


英国 100,000 个基因组计划的目标是对英国国家医疗服务体系 (NHS) 患者的 100,000 个基因组进行测序，同时改变临床护理，使全基因组测序成为英国的常规临床实践。政策制定者声称该项目将彻底改变 NHS 医疗服务。我们希望探讨 100,000 基因组计划，特别是政策制定者的主张在多大程度上帮助或阻碍了 Genomics England（卫生部为实施该项目而成立的公司）相关人员的工作。我们采访了 20 名与 Genomics England 相关或在该公司工作的人士。受访者对他们工作的环境有双刃剑的看法。一方面，政策制定者对合资企业的期望被认为是空洞的“基因炒作”；另一方面，它们被认为是那些试图将基因组研究推进临床实践的人所需的动力。未来的基因组项目应考虑这些发现。