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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 natio...

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Autores principales: Chan, Kee, Hu, Zhanzhi, Bush, Lynn W., Cope, Heidi, Holm, Ingrid A., Kingsmore, Stephen F., Wilhelm, Kevin, Scharfe, Curt, Brower, Amy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10660757/
https://www.ncbi.nlm.nih.gov/pubmed/37987476
http://dx.doi.org/10.3390/ijns9040063
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author Chan, Kee
Hu, Zhanzhi
Bush, Lynn W.
Cope, Heidi
Holm, Ingrid A.
Kingsmore, Stephen F.
Wilhelm, Kevin
Scharfe, Curt
Brower, Amy
author_facet Chan, Kee
Hu, Zhanzhi
Bush, Lynn W.
Cope, Heidi
Holm, Ingrid A.
Kingsmore, Stephen F.
Wilhelm, Kevin
Scharfe, Curt
Brower, Amy
author_sort Chan, Kee
collection PubMed
description 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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spelling pubmed-106607572023-10-30 NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders Chan, Kee Hu, Zhanzhi Bush, Lynn W. Cope, Heidi Holm, Ingrid A. Kingsmore, Stephen F. Wilhelm, Kevin Scharfe, Curt Brower, Amy Int J Neonatal Screen Article 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. MDPI 2023-10-30 /pmc/articles/PMC10660757/ /pubmed/37987476 http://dx.doi.org/10.3390/ijns9040063 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Chan, Kee
Hu, Zhanzhi
Bush, Lynn W.
Cope, Heidi
Holm, Ingrid A.
Kingsmore, Stephen F.
Wilhelm, Kevin
Scharfe, Curt
Brower, Amy
NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders
title NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders
title_full NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders
title_fullStr NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders
title_full_unstemmed NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders
title_short NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders
title_sort nbstrn tools to advance newborn screening research and support newborn screening stakeholders
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10660757/
https://www.ncbi.nlm.nih.gov/pubmed/37987476
http://dx.doi.org/10.3390/ijns9040063
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