Outcomes of an International Workshop on Preconception Expanded Carrier Screening: Some Considerations for Governments.
Outcomes of an International Workshop on Preconception Expanded Carrier Screening: Some Considerations for Governments.
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DOI：
10.3389/fpubh.2017.00025
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发表时间：
2017
影响因子：
5.2
通讯作者：
Laing N
中科院分区：
文献类型：
--
作者：
Molster CM;Lister K;Metternick-Jones S;Baynam G;Clarke AJ;Straub V;Dawkins HJ;Laing N
对各国政府来说，考虑扩大携带者筛查已成为一个新问题。然而，关于筛查项目的传统决策标准并没有纳入与扩大载体筛查相关的所有问题。此外，关于政府评估扩大携带者筛查的适当标准的制定，文献中缺乏一致的指导。鉴于此，举办了一次研讨会，以确定与先入为主的扩大携带者筛查有关的关键公共政策问题，各国政府在决定是否公开资助此类项目时应考虑这些问题。2015年6月，在欧洲人类遗传学学会会议上举行了一次卫星研讨会。它围绕两个设计特征构建：(1)从一系列角度提供信息；(2)对政府需要考虑的关键问题以及实施公共资助的全民孕前携带者筛查的利益、风险和挑战进行小组讨论。41名国际专家出席了讲习班。审议主要集中在测试条件和筛选项目本身的要素上。与会者希望只对严重的情况进行筛查，但担心对“严重”的定义缺乏共识。提出的关于筛查项目的问题包括目的、益处、危害、目标人群、项目可接受性、项目组成部分和经济评估。与会者还提出了考虑筛选试验准确性的论点。想要评估扩大的携带者筛查的政府需要仔细考虑一系列广泛的问题。政府关于筛查项目的传统决策标准并不“最适合”扩大的载体筛查，需要采用具有适当标准的新决策模型。有必要界定什么是“严重”状况，为筛选试验的可靠性和准确性建立证据，考虑确定为携带者的后续干预措施的公平可得性、下游影响和成本，并探索筛查方案的组成部分将如何受到扩大的携带者筛查的独特特点的影响。
Consideration of expanded carrier screening has become an emerging issue for governments. However, traditional criteria for decision-making regarding screening programs do not incorporate all the issues relevant to expanded carrier screening. Further, there is a lack of consistent guidance in the literature regarding the development of appropriate criteria for government assessment of expanded carrier screening. Given this, a workshop was held to identify key public policy issues related to preconception expanded carrier screening, which governments should consider when deciding whether to publicly fund such programs. In June 2015, a satellite workshop was held at the European Society of Human Genetics Conference. It was structured around two design features: (1) the provision of information from a range of perspectives and (2) small group deliberations on the key issues that governments need to consider and the benefits, risks, and challenges of implementing publicly funded whole-population preconception carrier screening. Forty-one international experts attended the workshop. The deliberations centered primarily on the conditions to be tested and the elements of the screening program itself. Participants expected only severe conditions to be screened but were concerned about the lack of a consensus definition of “severe.” Issues raised regarding the screening program included the purpose, benefits, harms, target population, program acceptability, components of a program, and economic evaluation. Participants also made arguments for consideration of the accuracy of screening tests. A wide range of issues require careful consideration by governments that want to assess expanded carrier screening. Traditional criteria for government decision-making regarding screening programs are not a “best fit” for expanded carrier screening and new models of decision-making with appropriate criteria are required. There is a need to define what a “severe” condition is, to build evidence regarding the reliability and accuracy of screening tests, to consider the equitable availability and downstream effects on and costs of follow-up interventions for those identified as carriers, and to explore the ways in which the components of a screening program would be impacted by unique features of expanded carrier screening.