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 By combining information from systematic reviews, published and unpublished data, and expert opinion, we will project long-term health and economic outcomes for conditions that can be detected by newborn screening.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.
Newborn screening programs have been rapidly expanding yet there is substantial debate over which conditions are best suited for inclusion in screening panels. The overall goal of this project is to provide information on long-term health and economic outcomes for conditions that can be detected by newborn screening along with data on public values for screening programs. The findings from this study can be used to inform policy decisions for candidate conditions.