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: 10076551
• 负责人: Melissa Pittel Wasserstein
• 金额: $ 64.3万
• 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/10076551
• 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; Diagnostic radiologic examination; 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; 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. ! !

好了！ 项目总结 自20世纪60年代以来，新生儿筛查一直是可预防卫生保健不可或缺的一部分。S。最近 多年来，新的筛查技术导致疾病的数量和类型显著扩大 在国家统计局的评审团上。对于正在考虑的每一种新的疾病，我们都面临着评估和 优化筛查方法和准确性，客观分析临床效益和潜力 筛查的风险。试点国家广播公司是收集这一重要信息的理想方式，并因此得到 公法113-240第116节《2014年新生儿筛查挽救生命再授权法》，其中 鼓励国家卫生研究院“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中，我们进行了 高效的溶酶体储存障碍(LSD)试点NBS与著名的纽约 国家广播公司的节目。我们已经证明，我们的试点屏幕基础设施是强大、高效且成本低廉的- 有效的程序，易于扩展和修改。因此，在这项提案中，我们将 利用我们的经验创建“NY ScreenPlus”，这是一个全面的、流动的、试点的国家统计局计划， 是否会对征得同意的婴儿进行筛查，以发现正在考虑大规模NBS的特定疾病，然后跟进 随着时间的推移，对阳性儿童进行筛查，以收集有关国家统计局对结果影响的关键数据。我们最初的试飞员 小组将包括酸性鞘磷脂酶缺乏症，脑腱黄瘤病，油样脂褐素沉着症 2型，高谢病，法布里病，溶酶体酸性脂肪酶缺乏症，异色性脑白质营养不良， MPS II、IIIB、IVA、VI和VII，以及Niemann Pick Type C。与第一个试点屏幕相比，有几个 重点改进。NY ScreenPlus在评审团上的障碍数量方面将显著增加， 地理区域和接受筛查的婴儿数量。它采用了一种新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，以及疾病特异性倡导团体。专家、科学和社区 已经组建了咨询委员会，以提供关键的监督和指导。最后，我们将与 NBSTRN的生物伦理和法律工作组利用我们的试点基础设施来解决关键的伦理、法律和 国家统计局相关的社会问题(ELSI)。总体而言，我们的目标是1)确定疾病发病率 种族多元化人群，2)定义筛查测试的分析和临床有效性，3)使用 纵向临床、生物标记物、放射学和生化数据，以收集关于 NBS对表型的影响，以及4)分析与新生儿复合体筛查相关的ELSI 精神错乱。总而言之，NY ScreenPlus将提供关键的、详细的数据，帮助指导客观、道德敏感的 关于国家统计局的决策。 好了！ 好了！