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

项目总结 虽然新生儿筛查(NBS)计划拯救了数千名患有遗传性疾病的儿童的生命 这一至关重要的公共卫生方案的未来成功取决于准确评估和 权衡筛查的利与弊。新测试技术的持续开发增加了 筛查的疾病数量，这会产生更多的假阳性NBS结果。尽管几十年来 研究表明，国家统计局假阳性结果的危害范围和程度仍然知之甚少。失败 解决这种理解不足的问题具有重大的政策、伦理和研究意义。来自一份保单 从长远来看，它破坏了对利益的必要评估，并损害了与以下决定相伴的 是否将障碍添加到州国家统计局的小组中。从伦理的角度来看，它将儿童和他们的 面临强制性公共卫生计划不良后果风险的家庭。从研究的角度来看，它 干扰了有效干预措施的设计，以减轻这些危害。因此，这样做的目的是 研究是全面检查对以下两种儿童的伤害的范围、程度和风险因素 收到国家统计局的假阳性结果及其家人。这项研究的目标将通过一个 对接受国家BS治疗的儿童及其父母进行的前瞻性多州队列研究 目的：(1)确定国家统计局假阳性结果造成的危害的范围和程度；(2)确定 与假阳性国家统计局结果相关的父母和儿童因素；以及(3)发展一种 初级保健提供者(PCP)-父母沟通辅助工具，以改善与儿童父母的初级保健提供者沟通 收到国家统计局假阳性结果的儿童。拟议的项目将提供最全面的 关于国家统计局结果为假阳性的儿童筛查后危害的最新数据。这些数据对于 未来改进和扩大美国国家统计局的努力取得成功。

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.