Emerging Challenges in NBS: Benefits and Harms of Receiving Uncertain Prognoses After NBS

项目总结 虽然新生儿筛查(NBS)计划已经防止了数十名患有 遗传性疾病在过去的50年里，这些项目面临着重大的新挑战。具体来说， 国家统计局系统迎来了一个越来越多的父母离开国家统计局的时代 经历对孩子未来健康状况不确定的经历。这种对预测确定性的侵蚀源于 增加具有广泛表型变异性的国家统计局小组的障碍。结果，一群新的 被称为“等待中的病人”的孩子们真的在等着看他们什么时候-或者是否-出现症状和 疾病的症状。虽然社会要求对这些儿童进行筛查，但我们几乎不了解 这些不确定的预测的好处和坏处。以前的研究为我们提供了重要的基础 研究“等待中的病人”的潜在危害和益处；然而，很少量化，也没有 存在以人口为基础的纵向数据，以告知我们对这些儿童的关心。这一差距具有重大的伦理意义 和政策含义。从伦理的角度来看，它让我们不确定利益和 对出生后几天接受强制性公共卫生计划的儿童造成伤害。来自一份保单 从角度来看，这导致了基于不完整数据的强制性国家统计局小组增加了障碍。 拟议项目的总体目标是通过检查以下方面的范围和规模来弥合这一差距 对于那些在国家统计局之后预后不确定的父母和孩子来说，这对他们有好处也有坏处。我们会 通过纵向多状态队列研究来实现项目目标 等待“，目标如下：1)确定惠益的纵向范围和大小 对接受国家广播公司治疗后预后不确定的父母及其子女的伤害；2)澄清 术后预后不确定的父母及其子女的纵向经历 国家统计局；3)为国家统计局项目制定建议，为政策和实践提供信息，以最大限度地 对那些接受NBS后预后不确定的儿童有利并将伤害降至最低。总而言之，这是 该项目将提供迄今为止对不确定因素的好处和危害的最全面的评估 NBS后的预后，并确保儿童及其父母继续从中获得净收益 成功的公共卫生计划。

PROJECT SUMMARY While newborn screening (NBS) programs have prevented death and disability for scores of children with inherited disorders over the past 50 years, these programs face significant emerging challenges. Specifically, the NBS system has ushered in an era in which increasing numbers of parents are leaving the NBS experience uncertain about their child's future health. This erosion of prognostic certainty stems from the addition of disorders to NBS panels that have broad phenotypic variability. As a result, a new group of children called “patients in waiting” are literally waiting to see when – or if – they develop signs and symptoms of disease. While society mandates that these children be screened, we have little understanding of the benefits and harms of these uncertain prognoses. Previous studies have provided vital foundational work on the potential harms and benefits for “patients in waiting;” however, little quantitative and no longitudinal population-based data exist to inform our care for these children. This gap has significant ethical and policy implications. From an ethical perspective, it leaves us unsure of the balance of benefits and harms for children who undergo a mandatory public health program days after birth. From a policy perspective, it leads to the addition of disorders to mandatory state NBS panel based on incomplete data. The proposed project’s overall objective is to close this gap by examining the scope and magnitude of benefits and harms on parents and their children who receive an uncertain prognosis after NBS. We will accomplish the project objective through a longitudinal multistate cohort study of parents of “patients in waiting,” with the following aims: 1) To determine the longitudinal scope and magnitude of benefits and harms on parents and their children who have received an uncertain prognosis after NBS; 2) To elucidate the longitudinal experiences of parents and their children who have received an uncertain prognosis after NBS; 3) To develop recommendations for NBS programs that will inform policies and practices to maximize benefit and minimize harm to children who receive an uncertain prognosis after NBS. In summary, this project will provide the most comprehensive assessment to date of the benefits and harms of an uncertain prognosis after NBS and ensure that children and their parents continue to receive a net benefit from this successful public health program.