ScreenPlus: A comprehensive, multi-disorder newborn screening program.
ScreenPlus: A comprehensive, multi-disorder newborn screening program.
复制标题
DOI：
10.1016/j.ymgmr.2023.101037
复制
发表时间：
2024-03
影响因子：
1.9
通讯作者：
Wasserstein, Melissa P.
中科院分区：
文献类型：
--
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.
越来越多的新疗法突出了筛查新生儿罕见遗传疾病的重要性，这样他们就可以从早期治疗中受益，因为早期治疗最有可能有效。新生儿筛查试点（NBS）研究是收集有关筛查的可行性和效用、筛查分析的准确性和疾病发生率的客观证据的一种方法。它们也是评估伴随国家统计局扩大疾病范围而产生的复杂伦理、法律和社会影响（ELSI）的最佳方式。ScreenPlus是一项经过同意的NBS试点项目，旨在招募纽约市超过10万名婴儿。最初的ScreenPlus面板包括14种疾病，并使用基于分析物的多层筛选平台，以提高筛选准确性。收到异常结果的婴儿被转介到ScreenPlus提供商进行确认性测试、管理和治疗，并根据需要进行结果数据的纵向捕获。参与ScreenPlus需要父母的同意，这是获得主动和被动的方式。面向患者的文件被翻译成我们九家试点医院最常用的十种语言，所有这些医院都为不同的社区服务。在同意的时候，父母被邀请接受一系列的在线调查，以获取他们对特定的elsi相关话题的意见，比如国家统计局的政策、残留的干血斑保留，以及应该在国家统计局的小组中出现的疾病类型。ScreenPlus开发了一种基于利益相关者的集体资助模式，除了来自14个倡导和行业赞助商的资助外，还包括联邦政府的支持，所有这些赞助商都对NBS至少针对ScreenPlus障碍中的一种特别感兴趣。总之，ScreenPlus是一个由多方赞助的示范性国家统计局试点项目，它将为广泛的疾病小组提供有关国家统计局的关键数据，同时收集关键利益相关者的意见，以帮助指导有关国家统计局扩张的道德敏感决策。
The increasing availability of novel therapies highlights the importance of screening newborns for rare genetic disorders so that they may benefit from early therapy, when it is most likely to be effective. Pilot newborn screening (NBS) studies are a way to gather objective evidence about the feasibility and utility of screening, the accuracy of screening assays, and the incidence of disease. They are also an optimal way to evaluate the complex ethical, legal and social implications (ELSI) that accompany NBS expansion for disorders. ScreenPlus is a consented pilot NBS program that aims to enroll over 100,000 infants across New York City. The initial ScreenPlus panel includes 14 disorders and uses an analyte-based, multi-tiered screening platform in an effort to enhance screening accuracy. Infants who receive an abnormal result are referred to a ScreenPlus provider for confirmatory testing, management, and therapy as needed, along with longitudinal capture of outcome data. Participation in ScreenPlus requires parental consent, which is obtained in active and passive manners. Patient-facing documents are translated into the ten most common languages spoken at our nine pilot hospitals, all of which serve diverse communities. At the time of consent, parents are invited to receive a series of online surveys to capture their opinions about specific ELSI-related topics, such as NBS policy, residual dried blood spot retention, and the types of disorders that should be on NBS panels. ScreenPlus has developed a stakeholder-based, collective funding model that includes federal support in addition to funding from 14 advocacy and industry sponsors, all of which have a particular interest in NBS for at least one of the ScreenPlus disorders. Taken together, ScreenPlus is a model, multi-sponsored pilot NBS program that will provide critical data about NBS for a broad panel of disorders, while gathering key stakeholder opinions to help guide ethically sensitive decision-making about NBS expansion.
登录
查看更多内容
影响因子：
3.8
作者：
Theda, Christiane;Gibbons, Katy;DeFor, Todd E.;Donohue, Pamela K.;Golden, W. Christopher;Kline, Antonie D.;Gulamali-Majid, Fizza;Panny, Susan R.;Hubbard, Walter C.;Jones, Richard O.;Liu, Anita K.;Moser, Ann B.;Raymond, Gerald V.
通讯作者：
Raymond, Gerald V.
影响因子：
8.8
作者：
Kemper, Alex R.;Green, Nancy S.;Bocchini, Joseph A., Jr.
通讯作者：
Bocchini, Joseph A., Jr.
影响因子：
8.8
作者：
Hong, Xinying;Sadilek, Martin;Gelb, Michael H.
通讯作者：
Gelb, Michael H.
影响因子：
5
作者：
Paciotti, Silvia;Persichetti, Emanuele;Beccari, Tommaso
通讯作者：
Beccari, Tommaso
影响因子：
3.8
作者：
Jiang, Xuntian;Sidhu, Rohini;Ory, Daniel S.
通讯作者：
Ory, Daniel S.