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

• 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
• 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

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，这些项目面临着新出现的重大挑战。具体来说， 国家统计局系统迎来了越来越多的家长离开国家统计局的时代 对孩子未来的健康状况感到不确定。这种预后确定性的侵蚀源于 将具有广泛表型变异性的疾病添加到 NBS 组中。结果，出现了一个新的群体 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， 疾病的症状。虽然社会要求对这些儿童进行筛查，但我们对此知之甚少 这些不确定的预测的好处和坏处。之前的研究提供了重要的基础 研究“等待患者”的潜在危害和益处；然而，定量很少，也没有 基于人口的纵向数据可以为我们对这些儿童的照顾提供信息。这种差距具有重大的伦理意义 和政策影响。从伦理角度来看，它让我们不确定利益与利益的平衡。 对出生后几天接受强制性公共卫生计划的儿童造成的伤害。从政策来看 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。我们将 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 对 NBS 后预后不确定的父母及其子女造成伤害； 2) 阐明 父母及其子女在接受治疗后接受了不确定的预后的纵向经历 国家统计局； 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 对 NBS 后预后不确定的儿童有益并最大限度地减少伤害。综上所述，这 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。