Unresolved Issues in Newborn Screening: Quantifying the Harms of a False Positive Result

项目摘要 虽然新生儿筛查（NBS）计划挽救了数千名遗传性疾病儿童的生命， 疾病，这一重要的公共卫生计划的未来成功取决于准确评估和 平衡筛查的利弊。新测试技术的不断发展， 筛查的疾病数量，这会产生更多的假阳性NBS结果。尽管经过数十年的 然而，从研究来看，假阳性NBS结果的危害范围和程度仍然知之甚少。失败 要解决这一认识不足的问题，具有重大的政策、伦理和研究意义。从政策 从这个角度来看，它破坏了对伴随着有关决策的利益和危害的必要评估， 是否要在国家统计局的调查中增加一项疾病从道德的角度来看，它将儿童及其 有可能因强制性公共卫生计划而产生不良后果的家庭。从研究的角度来看， 干扰有效干预措施的设计，以减轻这些伤害。因此，这一目标 这项研究是为了全面检查对儿童造成伤害的范围、程度和风险因素， 获得假阳性的NBS结果及其家人。这项研究的目标将通过一个 对接受NBS的儿童及其父母进行的前瞻性多州队列研究， 目的：（1）确定假阳性NBS结果造成危害的范围和程度;（2）识别 与假阳性NBS结果造成的伤害相关的父母和儿童因素;以及（3）制定一个 初级保健提供者（PCP）-父母沟通辅助工具，以改善PCP与下列儿童父母的沟通： 接受假阳性NBS结果的儿童。该项目将提供最全面的 迄今为止关于NBS假阳性结果对儿童筛查后危害的数据。这些数据对于 成功的未来努力，以改善和扩大国家统计局在美国。

PROJECT SUMMARY While newborn screening (NBS) programs have saved the lives of thousands of children with inherited disorders, the future success of this vital public health program depends on the ability to accurately assess and balance the benefits and harms of screening. The ongoing development of new testing technologies increases the number of disorders screened, which generates more false positive NBS results. Despite decades of research, the scope and magnitude of harms from false positive NBS results remain poorly understood. Failure to resolve this poor understanding has significant policy, ethical, and research implications. From a policy perspective, it undermines the requisite evaluation of benefits and harms that accompanies decisions about whether to add a disorder to a state NBS panel. From an ethical perspective, it places children and their families at risk for adverse outcomes from a mandatory public health program. From a research perspective, it interferes with the design of effective interventions to mitigate these harms. Therefore, the objective of this study is to comprehensively examine the scope, magnitude, and risk factors for harms to both children who receive false positive NBS results and their families. This study objective will be accomplished through a prospective multistate cohort study of children undergoing NBS and their parents with the following specific aims: (1) To determine the scope and magnitude of harms due to false positive NBS results; (2) To identify parental and child factors associated with harms due to false positive NBS results; and (3) To develop a primary care provider (PCP)–parent communication aid to improve PCP communication with parents of children who receive false positive NBS results. The proposed project will provide the most comprehensive data to-date on post-screening harms for children with false positive NBS results. These data are critical to the success of future efforts to improve and expand NBS in the US.