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: 10584779
• 负责人: Aaron J Goldenberg
• 金额: $ 78.77万
• 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/10584779
• 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; Foundations; 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; base; 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.

项目摘要 虽然新生儿筛查（NBS）计划阻止了数十名儿童的死亡和残疾 在过去的50年中，遗传性疾病面临着重大的挑战。具体来说， NBS系统已经迎来了一个越来越多的父母离开NB的时代 经验不确定孩子的未来健康。预后确定性步骤的侵蚀 在具有广泛表型变异性的NBS面板中添加疾病。结果，一组 叫做“等待患者”的孩子实际上正在等待查看何时 - 或者 - 是否形成迹象和 疾病的症状。尽管社会要求对这些孩子进行筛选，但我们几乎没有理解 这些不确定预后的好处和危害。先前的研究提供了重要的基础 为“等待患者”的潜在危害和利益工作；但是，数量很少，没有 存在基于纵向人群的数据，以告知我们对这些孩子的照顾。这个差距具有重要的道德 和政策影响。从道德的角度来看，它使我们不确定利益的平衡和 出生后几天在强制性公共卫生计划中接受强制性公共卫生计划的危害。从政策中 透视化，它导致基于不完整数据的强制性状态NBS面板增加了疾病。 拟议项目的总体目标是通过检查 对父母及其子女的益处和危害，他们在NBS之后获得不确定的预后。我们将 通过对父母的纵向多态队列研究来实现项目目标 等待，“以以下目的：1）确定纵向范围和利益的幅度 对父母及其子女的伤害，他们在NBS之后获得了不确定的预后； 2）阐明 父母及其子女的纵向经历，他们在 nbs; 3）为NBS计划开发建议，以告知政策和实践以最大化 益处并最大程度地减少对NBS后不确定预后的儿童的伤害。总而言之，这 项目将为不确定的福利和危害提供最全面的评估 NBS之后的预后，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。