Prosser Lisa A, Grosse Scott D, Kemper Alex R, Tarini Beth A, Perrin James M
Child Health Evaluation and Research Unit, Division of General Pediatrics, University of Michigan, Ann Arbor, Michigan, USA.
Genet Med. 2013;14(8):703-712. doi: 10.1038/gim.2012.24. Epub 2012 Apr 5.
The number of conditions included in newborn screening panels has increased rapidly in the United States during the past decade, and many more conditions are under consideration for addition to state panels. The rare nature of candidate conditions for newborn screening makes their evaluation challenging. The scarcity of data on the costs of screening, follow-up, treatment, and long-term disability must be addressed to improve the evaluation process for nominated conditions. Decision analyses and economic evaluations can help inform policy decisions for newborn screening programs by providing a systematic approach to synthesizing available evidence and providing projected estimates of long-term clinical and economic outcomes when long-term data are not available. In this review, we outline the types of data required for the development of decision analysis and cost-effectiveness models for newborn screening programs and discuss the challenges faced when applying these methods in the arena of newborn screening to help inform policy decisions.Genet Med advance online publication 5 April 2012.
在过去十年中，美国新生儿筛查项目所涵盖的疾病数量迅速增加，而且还有更多疾病正被考虑纳入各州的筛查项目。新生儿筛查候选疾病的罕见性使其评估颇具挑战性。必须解决有关筛查、随访、治疗及长期残疾成本的数据稀缺问题，以改进对提名疾病的评估流程。决策分析和经济评估通过提供一种系统方法来综合现有证据，并在缺乏长期数据时提供长期临床和经济结果的预测估计，从而有助于为新生儿筛查项目的政策决策提供依据。在本综述中，我们概述了新生儿筛查项目决策分析和成本效益模型开发所需的数据类型，并讨论了在新生儿筛查领域应用这些方法以辅助政策决策时所面临的挑战。《遗传医学》2012年4月5日在线优先发表。
