Chan Kee, Brower Amy, Ganiats Theodore G
ValueMinded LLC, Milwaukee, Wisconsin, USA.
American College of Medical Genetics and Genomics, Bethesda, Maryland, USA.
Arch Pediatr (Lisle). 2024;9(1). doi: 10.29011/2575-825x.100307. Epub 2024 Mar 25.
The utilization and application of genomic information generated from precision medicine continues to increase with the goal of improving health outcomes. Increasingly researchers, health care professionals, and public health teams include an examination of the ethical, legal, and social issues (ELSI) in their consideration of the use of precision medicine for newborn and pediatric health. In addition to ELSI considerations, stakeholders could benefit from an understanding of economics, the other "E" in ELSI. The use of an economic evaluation could aid decision-making on whether to screen newborns who may be at risk for disease, to diagnose newborns and children who present with symptoms, to inform the treatment and management of diagnosed individuals. In this manuscript we review the core concepts of economic evaluation, the framework of decision-analysis, and key parameters for consideration in assessing the economics of NBS program(s). We describe the common language used in the economic evaluation and provide a practical overview of health economic evaluations including 1) their purpose, 2) different types and components, 3) evaluation of the different types and components of economic evaluations (i.e., cost-effectiveness vs. cost-benefit analysis), 4) impact of societal or healthcare perspectives on the analysis, 5) health outcomes, 6) time horizon for the analysis, 7) identification of appropriate comparators, and 8) resources for economic data. We conclude with a use case to demonstrate the application and understanding of economic considerations for in the advancement and expansion of NBS.
随着改善健康结果这一目标的推进，精准医学所产生的基因组信息的利用和应用持续增加。越来越多的研究人员、医疗保健专业人员和公共卫生团队在考虑将精准医学用于新生儿和儿童健康时，纳入了对伦理、法律和社会问题（ELSI）的审查。除了ELSI方面的考虑，利益相关者还可从对经济学（ELSI中的另一个“E”）的理解中受益。经济评估的运用有助于做出决策，比如是否对可能有疾病风险的新生儿进行筛查，对出现症状的新生儿和儿童进行诊断，以及为已确诊个体的治疗和管理提供信息。在本手稿中，我们回顾了经济评估的核心概念、决策分析框架以及在评估新生儿筛查项目经济性时需考虑的关键参数。我们描述了经济评估中使用的通用语言，并对健康经济评估进行了实际概述，包括：1）其目的；2）不同类型和组成部分；3）经济评估不同类型和组成部分的评估（即成本效益分析与成本效益分析）；4）社会或医疗保健视角对分析的影响；5）健康结果；6）分析的时间范围；7）合适对照物的确定；8）经济数据的资源。我们通过一个用例来结束本文，以展示在新生儿筛查的推进和扩展中对经济考量的应用和理解。
