为在全球范围内实施临床基因组测序铺平道路:我们准备好了吗?

Health affairs scholar Pub Date : 2024-04-29 eCollection Date: 2024-05-01 DOI:10.1093/haschl/qxae053
Deborah A Marshall, Nicolle Hua, James Buchanan, Kurt D Christensen, Geert W J Frederix, Ilias Goranitis, Maarten Ijzerman, Jeroen P Jansen, Tara A Lavelle, Dean A Regier, Hadley S Smith, Wendy J Ungar, Deirdre Weymann, Sarah Wordsworth, Kathryn A Phillips
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引用次数: 0

摘要

尽管近年来新证据不断涌现,但临床基因组测序(CGS)的成功实施仍然有限,并受到一系列障碍的挑战。这些障碍包括缺乏标准化的实践、对特定适应症的经济评估有限、患者在卫生政策决策中的有意义参与有限,以及实施过程中的相关成本和资源需求。虽然 CGS 在全球范围内的可用性和可及性正在逐步提高,但仍然存在很大的差异和差距,对成功实施的经验教训的反思也很少。在本评论中,全球临床基因组测序经济学与评估工作组(GEECS)的成员从卫生经济学和政策的角度描述了 CGS 的全球状况,并提出了基于证据的解决方案,以解决 CGS 实施过程中现有和未来的障碍。讨论的主题体现为两个首要主题:(1) CGS 的系统准备情况;(2) 证据、评估和审批流程。这些主题强调了对卫生经济学、公共卫生、基础设施和运营考虑的需求;以患者和家庭为中心的有关 CGS 结果的强大证据基础;以及全面、协作、跨学科的方法。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Paving the path for implementation of clinical genomic sequencing globally: Are we ready?

Despite the emerging evidence in recent years, successful implementation of clinical genomic sequencing (CGS) remains limited and is challenged by a range of barriers. These include a lack of standardized practices, limited economic assessments for specific indications, limited meaningful patient engagement in health policy decision-making, and the associated costs and resource demand for implementation. Although CGS is gradually becoming more available and accessible worldwide, large variations and disparities remain, and reflections on the lessons learned for successful implementation are sparse. In this commentary, members of the Global Economics and Evaluation of Clinical Genomics Sequencing Working Group (GEECS) describe the global landscape of CGS in the context of health economics and policy and propose evidence-based solutions to address existing and future barriers to CGS implementation. The topics discussed are reflected as two overarching themes: (1) system readiness for CGS and (2) evidence, assessments, and approval processes. These themes highlight the need for health economics, public health, and infrastructure and operational considerations; a robust patient- and family-centered evidence base on CGS outcomes; and a comprehensive, collaborative, interdisciplinary approach.

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