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

项目摘要 虽然新生儿筛查（NBS）计划已经预防了数十名患有 在过去50年里，这些方案面临着新出现的重大挑战。具体地说， 国家统计局系统已经进入了一个时代，越来越多的父母离开了国家统计局 他们对孩子未来的健康状况感到不确定。这种对预测确定性的侵蚀源于 将具有广泛表型变异性的疾病添加到NBS面板中。因此，一组新的 被称为“等待中的病人”的儿童实际上是在等着看他们何时或是否出现症状， 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 这些不确定性的好处和危害。以前的研究提供了重要的基础 研究“等待中的病人”的潜在危害和益处;然而，很少有定量的，也没有 现有的纵向人口数据可为我们对这些儿童的护理提供信息。这一差距具有重大的道德意义。 和政策影响。从伦理的角度来看，它使我们不确定利益的平衡， 对出生后几天接受强制性公共卫生计划的儿童的伤害。从政策 从这个角度来看，它导致了基于不完整数据的强制性国家NBS面板中添加疾病。 拟议项目的总体目标是通过审查以下方面的范围和规模来缩小这一差距： 对NBS后接受不确定预后的父母及其子女的益处和危害。我们将 通过对“老年痴呆症患者”的父母进行纵向多州队列研究， 1）确定福利的纵向范围和幅度， 对NBS后接受不确定预后的父母及其子女的伤害; 2）阐明 父母和他们的孩子的纵向经验谁收到了不确定的预后后， 3）为国家统计局的方案提出建议，这些方案将为政策和做法提供信息， 对NBS后预后不确定的儿童有益，并将伤害降到最低。总之，这 该项目将提供迄今为止最全面的评估，评估一个不确定的 NBS后的预后，并确保儿童及其父母继续从中获得净收益 成功的公共卫生项目。

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.