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

基本信息

批准号：
10678941
负责人：
Melissa Pittel Wasserstein
金额：
$ 61.76万
依托单位：
ALBERT EINSTEIN COLLEGE OF MEDICINE
依托单位国家：
美国
项目类别：
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/10678941
关键词：
Address Advisory Committees Advocacy Affect Algorithms Authorization documentation Biochemical Bioethics Biological Assay Biological Markers Birth Rate Cerebrotendinous Xanthomatosis Child Clinical Collaborations Collection Communities Complex Consent Cost Sharing Data Data Collection Databases Decision Making Development Diagnosis Disease Eligibility Determination 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 Neimann-Pick&apos s Disease Type C Neonatal Screening Neuronal Ceroid-Lipofuscinosis New York Niemann-Pick Diseases Outcome Parents Phenotype Pilot Projects Population Heterogeneity Productivity Rare Diseases Recommendation Registries Research Risk Signs and Symptoms Surveys Technology Testing Time Translational Research United States National Institutes of Health Wolman Disease Work acid sphingomyelinase authority cost effective data registry ethical, legal, and 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

项目摘要

! 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. ! !

呢项目摘要自1960年代以来，新生儿筛查（NBS）一直是可预防的医疗保健的组成部分多年来，新的筛查技术导致了疾病数量和类型的显着扩展在NBS面板上。优化屏幕差异学和准确性，并客观地临床贝纳菲特和潜力筛选的风险是pilot nbs是收集其基本信息的方式新生儿筛查的第113-240节116节挽救了2014年的生命重新授权法，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在全国范围内实施。高生产力的溶酶体存储障碍（LSD）的高产试验NBS与著名的纽约结合国家NBS计划。有利于扩展和修改的有效程序。利用我们创建“ ny credreplus”的经验，这是一个愚蠢的，流畅的，飞行员NBS计划的经验将筛选针对正在考虑的特定疾病的婴儿同意，并关注十个随着时间的流逝，筛选了积极的孩子，以收集有关结果的影响面板将包括酸鞘磷脂酶缺乏症，脑齿状异常病，凝胶脂肪促肌舒尼病 2型，高乔病，法布里病，溶酶体染色脂肪酶缺乏，定分白细胞营养不良， MPS II，IIIB，IVA，VI和VII和Niemann Pick类型C与第一个飞行员屏幕相比，有几个关键的改进。地理区域和筛选婴儿的数量。 NIH，几个行业赞助商和特定疾病的倡导组织。咨询委员会已被组装，以提供关键的监督和指导。 NBSTRN的生物伦理学和法律工作组利用OROT基础设施来解决关键的道德，合法和与NBS相关的社会问题（ELSI）。种族多样化的人口，2）定义筛查测试的分析和临床有效性，3）使用纵向临床，生物标志物，影像学和生化数据，以收集有关有关的客观证据 NB对表型的影响，以及4）分析与筛查新生儿有关的ELSI 疾病总的来说，NY剧本将提供关键的详细数据，以帮助指导目标关于NBS的决策。呢呢

项目成果

期刊论文数量（7）

专著数量（0）

科研奖励数量（0）

会议论文数量（0）

专利数量（0）

Long-term follow-up in newborn screening: the role of collaboration.

新生儿筛查的长期随访：合作的作用。

DOI：
10.1038/gim.2016.99
发表时间：
2016
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
0
作者：
Wasserstein,MelissaP
通讯作者：
Wasserstein,MelissaP

Parental Depression and Anxiety Associated with Newborn Bloodspot Screening for Rare and Variable-Onset Disorders.

DOI：
10.3390/ijns8040059
发表时间：
2022-11-10
期刊：
International journal of neonatal screening
影响因子：
3.5
作者：
通讯作者：

ScreenPlus: A comprehensive, multi-disorder newborn screening program.

DOI：
10.1016/j.ymgmr.2023.101037
发表时间：
2024-03
期刊：
MOLECULAR GENETICS AND METABOLISM REPORTS
影响因子：
1.9
作者：
Kelly, Nicole R.;Orsini, Joseph J.;Goldenberg, Aaron J.;Mulrooney, Niamh S.;Boychuk, Natalie A.;Clarke, Megan J.;Paleologos, Katrina;Martin, Monica M.;McNeight, Hannah;Caggana, Michele;Bailey, Sean M.;Eiland, Lisa R.;Ganesh, Jaya;Kupchik, Gabriel;Lumba, Rishi;Nafday, Suhas;Stroustrup, Annemarie;Gelb, Michael H.;Wasserstein, Melissa P.
通讯作者：
Wasserstein, Melissa P.