Health and Economic Outcomes for Newborn Screening

描述（由申请人提供）：最近筛查技术的改进已经允许对许多额外的新生儿疾病进行筛查，而检测成本几乎没有增加。与此同时，关于新生儿筛查可以发现的疾病的长期结果的信息很少。新生儿和儿童遗传性疾病秘书咨询委员会由卫生资源和服务管理局授权，使用系统审查程序评估提名纳入建议的统一新生儿筛查小组的新病症。有几种情况已被提名，但主要由于缺乏证据，不建议进行统一筛查。该研究项目将以代表新生儿和儿童遗传性疾病咨询委员会进行的证据审查为基础。由于技术和伦理方面的挑战阻碍了在这一领域使用传统的临床试验，本研究项目将使用计算机建模来模拟新生儿筛查项目的临床试验，与不进行筛查（临床鉴定）相比。通过结合来自系统评价、已发表和未发表数据以及专家意见的信息，我们将预测新生儿筛查可发现的疾病的长期健康和经济结果。本研究亦将对新生儿筛检计划的公众价值进行调查。项目团队将包括来自广泛学科的研究人员，他们在新生儿筛查项目的证据综合和政策分析以及临床专业知识方面具有丰富的专业知识。该研究的研究问题将由一个咨询委员会指导，该委员会的成员在考虑扩大新生儿筛查项目时代表了许多相关的观点。这项拟议的研究项目侧重于新生儿和儿童遗传性疾病秘书咨询委员会确定的证据差距，并侧重于儿童，这是确定的AHRQ优先人群。健康和经济结果的结果与公众偏好数据相结合，将为有关选择新生儿筛查小组条件的政策决定提供必要的信息。

DESCRIPTION (provided by applicant): Recent enhancements in screening technology have allowed for newborn screening for many additional disorders with little increase in testing cost. At the same time, there is little information on long-term outcomes for conditions that can be detected by newborn screening. The Secretary's Advisory Committee on Heritable Disorders in Newborns and Children was chartered by the Health Resources and Services Administration to evaluate new conditions nominated for inclusion on the recommended uniform newborn screening panel using a systematic review process. Several conditions have been nominated but not recommended for uniform screening, primarily due to a lack of evidence. This research project will build on the evidence reviews conducted on behalf of the Advisory Committee for Heritable Disorders in Newborns and Children. Due to technical and ethical challenges that preclude the use of traditional clinical trials in this area, this research project will use computer modeling to simulate clinical trials of newborn screening programs compared to no screening (clinical identification). By combining information from systematic reviews, published and unpublished data, and expert opinion, we will project long-term health and economic outcomes for conditions that can be detected by newborn screening. This research study will also conduct a survey of public values for newborn screening programs. The project team will include investigators from a wide range of disciplines who have substantial expertise in evidence synthesis and policy analysis of newborn screening programs as well as clinical expertise. Research questions for the study will be guided by an Advisory Committee whose members represent the many relevant viewpoints when considering the expansion of newborn screening programs. This proposed research project focuses on the evidence gap identified by the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children and focuses on children, an identified AHRQ priority population. Results on health and economic outcomes paired with public preference data will provide the necessary information needed for policy decisions regarding the selection of conditions for newborn screening panels.