NY ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program

NY ScreenPlus：全面、灵活、多疾病新生儿筛查计划

• 批准号: 10454995
• 负责人: Melissa Pittel Wasserstein
• 金额: $ 62.04万
• 依托单位: ALBERT EINSTEIN COLLEGE OF MEDICINE
• 依托单位国家: 美国
• 财政年份: 2012
• 资助国家: 美国
• 起止时间: 2012-09-04 至 2024-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10454995
• 关键词: Address; Advisory Committees; Advocacy; Affect; Algorithms; Biochemical; Bioethics; Biological Assay; Biological Markers; Birth Rate; Cerebrotendinous Xanthomatosis; Child; Clinical; Collection; Communities; Complex; Consent; Cost Sharing; Data; Data Collection; Databases; Decision Making; Development; Diagnosis; Disease; Eligibility Determination; Ensure; Ethics; Fabry Disease; Funding; Genomics; Geographic Locations; Goals; Healthcare; Hospitals; Incidence; Industry; Infant; Infantile Gaucher Disease; Informed Consent; Infrastructure; Interview; Laboratories; Laws; Legal; Liquid substance; Longterm Follow-up; Metachromatic Leukodystrophy; Methodology; Modeling; Modification; Mucopolysaccharidosis II; Neonatal Screening; Neuronal Ceroid-Lipofuscinosis; New York; Niemann-Pick Diseases; Outcome; Parents; Phenotype; Pilot Projects; Population Heterogeneity; Rare Diseases; Registries; Research; Risk; Signs and Symptoms; Sum; Supraoptic Vertical Ophthalmoplegia; Surveys; Technology; Testing; Time; Translational Research; United States National Institutes of Health; Wolman Disease; Work; acid sphingomyelinase; clinical biomarkers; cost effective; data registry; ethical legal social implication; ethnic diversity; experience; flexibility; follow-up; improved; innovation; interest; novel; organizational structure; programs; public trust; radiological imaging; routine screening; screening; screening panel; screening policy; screening program; social; treatment response

! PROJECT SUMMARY Newborn screening (NBS) has been an integral part of preventable health care since the 1960’s. In recent years, new screening technologies have led to a remarkable expansion of the numbers and types of disorders on NBS panels. For each new disorder under consideration, we are faced with the need to evaluate and optimize screening methodology and accuracy, and to objectively analyze the clinical benefit and potential risks of screening. Pilot NBS are an ideal way to gather this essential information and is recognized as such by Public Law 113-240 Sec 116 of the Newborn Screening Saves Lives Reauthorization Act of 2014, which encouraged the NIH to “conduct pilot studies on conditions recommended by the Advisory Committee to ensure that screenings are ready for nationwide implementation.” In our first funding cycle, we conducted a highly productive pilot NBS for lysosomal storage disorders (LSDs) in conjunction with the renowned New York State NBS Program. We have demonstrated that our pilot screen infrastructure is a robust, efficient, and cost- effective program that is easily conducive to expansion and modification. Thus, in this proposal we will capitalize on our experience to create “NY ScreenPlus,” a fully comprehensive, fluid, pilot NBS program that will screen consented infants for specific disorders that are under consideration for mass NBS, and then follow screen positive children over time to gather crucial data about the impact of NBS on outcome. Our initial pilot panel will include acid sphingomyelinase deficiency, cerebrotendinous xanthomatosis, ceroid lipofuscinosis type 2, Gaucher disease, Fabry disease, lysosomal acid lipase deficiency, metachromatic leukodystrophy, MPS II, IIIb, IVa, VI, and VII, and Niemann Pick type C. Compared with the first pilot screen, there are several key improvements. NY ScreenPlus will be significantly larger in terms of number of disorders on the panel, geographic area, and number of screened infants. It features a novel cost- and data-sharing model between NIH, several Industry Sponsors, and disease-specific Advocacy groups. Expert Scientific and Community Advisory Boards have been assembled to provide critical oversight and guidance. Lastly, we will work with NBSTRN’s Bioethics and Legal workgroup to utilize our pilot infrastructure to address key ethical, legal, and social issues (ELSI) associated with NBS. Overall, our goals are to 1) determine disease incidence in an ethnically diverse population, 2) define the analytic and clinical validity of the screening tests, 3) use longitudinal clinical, biomarker, radiographic, and biochemical data to gather objective evidence about the impact of NBS on phenotype, and 4) analyze the ELSI associated with screening newborns for complex disorders. In sum, NY ScreenPlus will provide critical, detailed data to help guide objective, ethically sensitive decision-making about NBS. ! !

! 项目摘要 自20世纪60年代以来，新生儿筛查（NBS）一直是可预防卫生保健的组成部分。近几 近年来，新的筛查技术导致了疾病数量和类型的显着扩展 在国家统计局的面板上。对于每一种新的疾病，我们都面临着评估和 优化筛选方法和准确性，客观分析临床获益和潜力 筛查的风险。试点NBS是收集这一基本信息的理想方式， 公法113-240第116条新生儿筛查生命再授权法案2014年， 鼓励NIH“对咨询委员会建议的条件进行试点研究， 确保筛查准备好在全国范围内实施。”在我们的第一个融资周期，我们进行了一个 与著名的纽约国家统计局合作， 国家统计局计划。我们已经证明，我们的试点屏幕基础设施是一个强大的，高效的，成本- 易于扩展和修改有效程序。因此，在本提案中，我们将 利用我们的经验创建“NY ScreenPlus”，这是一个全面、流畅的NBS试点项目， 将筛选同意婴儿的特定疾病，正在考虑大规模NBS，然后按照 随着时间的推移，筛查阳性儿童，以收集有关NBS对结果影响的关键数据。我们最初的飞行员 小组将包括酸性鞘磷脂酶缺乏症，肌腱黄瘤病，蜡样脂褐质沉积症 2型，戈谢病，法布里病，溶酶体酸性脂肪酶缺乏，异染性脑白质营养不良， MPS II、IIIb、IVa、VI和VII以及Niemann Pick C型。与第一个试点屏幕相比， 关键改进。NY ScreenPlus在面板上的疾病数量方面将明显更大， 地理区域和筛查婴儿的数量。它采用了一种新颖的成本和数据共享模式， 美国国立卫生研究院，几个行业赞助商和疾病特定的倡导团体。专家科学和社区 已组建咨询委员会，以提供重要的监督和指导。最后，我们将与 NBSTRN的生物伦理学和法律的知识，利用我们的试点基础设施，以解决关键的伦理，法律的， 与NBS相关的社会问题（ELSI）。总的来说，我们的目标是1）确定疾病的发病率， 种族多样化的人群，2）定义筛选试验的分析和临床有效性，3）使用 纵向临床、生物标志物、放射学和生物化学数据，以收集关于 NBS对表型的影响，以及4）分析与筛查新生儿复杂 紊乱总之，NY ScreenPlus将提供关键的详细数据，以帮助指导客观，道德敏感的 关于NBS的决策 ! !