NBSTRN工具推进新生儿筛查研究和支持新生儿筛查利益相关者

IF 4 Q1 GENETICS & HEREDITY International Journal of Neonatal Screening Pub Date : 2023-10-30 DOI:10.3390/ijns9040063
Kee Chan, Zhanzhi Hu, Lynn W. Bush, Heidi Cope, Ingrid A. Holm, Stephen F. Kingsmore, Kevin Wilhelm, Curt Scharfe, Amy Brower
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引用次数: 0

摘要

遗传疾病筛查、诊断和治疗方面的快速进展增加了通过新生儿普遍筛查(NBS)可以检测到的疾病数量。然而,在建议统一筛选小组(RUSP)中增加条件和在全国范围内实施筛选一直是一个缓慢的过程,需要数年时间才能完成个别条件。在这里,我们描述了新生儿筛查转化研究网络(NBSTRN)开发和实施的基于网络的工具和资源,以推进新生儿筛查研究并支持全球NBS利益相关者。NBSTRN的工具包括纵向儿科数据资源(LPDR)、国家统计局条件资源(NBS- cr)、国家统计局虚拟存储库(NBS- vr)和伦理、法律和社会问题(ELSI)优势。研究项目,包括代谢信息系统的先天错误(IBEM-IS)、BabySeq、EarlyCheck和家庭叙述用例,都利用了NBSTRN的工具,并反过来贡献了研究数据,以进一步扩展和完善这些资源。此外,我们还讨论了正在进行的工具开发,以促进在日益多样化的人群中扩大遗传病筛查。总之,NBSTRN的工具和资源提供了一个值得信赖的平台,使国家统计局的利益相关者能够推进国家统计局的研究,并改善对患者及其家属的临床护理。
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NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders
Rapid advances in the screening, diagnosis, and treatment of genetic disorders have increased the number of conditions that can be detected through universal newborn screening (NBS). However, the addition of conditions to the Recommended Uniform Screening Panel (RUSP) and the implementation of nationwide screening has been a slow process taking several years to accomplish for individual conditions. Here, we describe web-based tools and resources developed and implemented by the newborn screening translational research network (NBSTRN) to advance newborn screening research and support NBS stakeholders worldwide. The NBSTRN’s tools include the Longitudinal Pediatric Data Resource (LPDR), the NBS Condition Resource (NBS-CR), the NBS Virtual Repository (NBS-VR), and the Ethical, Legal, and Social Issues (ELSI) Advantage. Research programs, including the Inborn Errors of Metabolism Information System (IBEM-IS), BabySeq, EarlyCheck, and Family Narratives Use Cases, have utilized NBSTRN’s tools and, in turn, contributed research data to further expand and refine these resources. Additionally, we discuss ongoing tool development to facilitate the expansion of genetic disease screening in increasingly diverse populations. In conclusion, NBSTRN’s tools and resources provide a trusted platform to enable NBS stakeholders to advance NBS research and improve clinical care for patients and their families.
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来源期刊
International Journal of Neonatal Screening
International Journal of Neonatal Screening Medicine-Pediatrics, Perinatology and Child Health
CiteScore
6.70
自引率
20.00%
发文量
56
审稿时长
11 weeks
期刊最新文献
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