Payne Katherine, Eden Martin, Davison Niall, Bakker Egbert
Manchester Centre for Health Economics, The University of Manchester, Manchester M13 9PL, UK.
Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Per Med. 2017 May;14(3):235-247. doi: 10.2217/pme-2016-0089. Epub 2017 May 5.
Whole-genome sequencing (WGS) is being applied within research settings across Europe to develop genomic WGS-based diagnostic tests. The focus of this perspective paper is to describe if, and how, current approaches of health technology assessment could be applied to WGS-based diagnostic tests. This perspective draws on the collective view from a trans-European multidisciplinary consortium of methodologists, clinicians and scientists. Specific challenges can be described by using the PICO (population, intervention, comparator, outcome) framework to inform health technology assessment. Practical solutions are suggested which require joined-up, multidisciplinary working across healthcare systems using existing expert networks so that emergent issues for the health technology assessment of WGS can be met in a timely fashion.
全基因组测序（WGS）正在欧洲各地的研究环境中得到应用，以开发基于基因组WGS的诊断测试。这篇观点论文的重点是描述当前的卫生技术评估方法是否以及如何应用于基于WGS的诊断测试。这一观点借鉴了一个由方法学家、临床医生和科学家组成的跨欧洲多学科联盟的集体意见。可以通过使用PICO（人群、干预措施、对照、结果）框架来描述具体挑战，以为卫生技术评估提供信息。建议采取切实可行的解决方案，这需要利用现有的专家网络，在整个医疗系统中进行联合、多学科的合作，以便能够及时应对WGS卫生技术评估中出现的问题。
