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

NBS 中的新挑战：NBS 后收到不确定预测的好处和坏处

基本信息

批准号：
10708198
负责人：
Aaron J Goldenberg
金额：
$ 72.27万
依托单位：
CHILDREN'S RESEARCH INSTITUTE
依托单位国家：
美国
项目类别：
财政年份：
2022
资助国家：
美国
起止时间：
2022-09-21 至 2027-08-31
项目状态：
未结题

来源：
https://reporter.nih.gov/project-details/10708198
关键词：
Affect Age of Onset Bioethics Birth Cessation of life Child Child Care Child Health Cohort Studies Data Disease Early treatment Ensure Equilibrium Ethics Face Family Future Generations Genetic Genetic Counseling Harm Reduction Health Health Services Health Status Hereditary Disease Interdisciplinary Study Interview Left Methodology National Human Genome Research Institute National Institute of Child Health and Human Development Neonatal Screening Newborn Infant Parents Patients Phenotype Policies Prognosis Psychology Public Health Reaction Recommendation Reporting Research Personnel Screening Result Severity of illness Signs and Symptoms Societies Stress Support System Symptoms System Time Uncertainty United States National Institutes of Health Work coping mechanism disability evidence base evidence based guidelines experience improved innovation operation policy implication policy recommendation population based prevent prognostic programs psychosocial screening screening panel screening program stem

项目摘要

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.

项目概要虽然新生儿筛查 (NBS) 计划已避免了数十名患有此病的儿童死亡和残疾过去 50 年来，这些项目面临着重大的新挑战。国家统计局系统迎来了越来越多家长离开国家统计局的时代对孩子未来健康状况的不确定性导致了预后确定性的下降。将具有广泛表型变异性的疾病添加到 NBS 组中，从而产生了一组新的疾病。被称为“等待病人”的孩子们实际上是在等待，看看他们何时——或者是否——出现症状，虽然社会要求对这些儿童进行筛查，但我们对此知之甚少。先前的研究为这些不确定的预测的好处和危害提供了重要的基础。研究对“等待中的患者”的潜在危害和益处；然而，很少有定量的研究，也没有基于人口的数据可以告诉我们如何照顾这些儿童，这种差距具有显着的道德纵向意义。从道德角度来看，它让我们不确定利益与利益的平衡。出生后几天接受强制性公共卫生计划的儿童的危害来自政策。从角度来看，它导致基于不完整的数据将疾病添加到强制性国家国家统计局面板中。拟议项目的总体目标是通过审查以下方面的范围和程度来缩小这一差距： NBS 治疗后预后不确定的父母及其子女的益处和危害通过对“患者父母”进行纵向多州队列研究来实现项目目标等待”，其目标如下： 1）确定效益和效益的纵向范围和程度 NBS 后预后不确定的父母及其子女的危害 2) 阐明父母及其子女在接受治疗后获得不确定预后的纵向经历 3) 为 NBS 计划制定建议，为政策和实践提供信息，以最大限度地提高总而言之，这对 NBS 后预后不确定的儿童有益并最大限度地减少伤害。该项目将对不确定性的利弊提供迄今为止最全面的评估 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。