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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. ! !

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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）

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.

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：

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