NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders-Reference-Cited by-同舟云学术

NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders

Published:2023-10-30 Issue:4 Volume:9 Page:63
ISSN:2409-515X
Container-title:International Journal of Neonatal Screening
language:en
Short-container-title:IJNS

Author:

Chan Kee¹,Hu Zhanzhi²^ORCID,Bush Lynn W.³⁴^ORCID,Cope Heidi⁵^ORCID,Holm Ingrid A.³⁴^ORCID,Kingsmore Stephen F.⁶,Wilhelm Kevin⁷^ORCID,Scharfe Curt⁸^ORCID,Brower Amy¹^ORCID

Affiliation:

1. American College of Medical Genetics and Genomics, Bethesda, MD 20814, USA

2. Department of Systems Biology, Columbia University, New York, NY 10032, USA

3. Division Genetics and Genomics, Boston Children’s Hospital Center, Boston, MA 02115, USA

4. Department of Pediatrics and Center for Bioethics, Harvard Medical School, Boston, MA 02115, USA

5. GenOmics and Translational Research Center, RTI International, Research Triangle Park, NC 27709, USA

6. Rady Children’s Institute for Genomic Medicine, San Diego, CA 92123, USA

7. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA

8. Department of Genetics, Yale School of Medicine, New Haven, CT 06510, USA

Abstract

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.

Funder

National Institutes of Health, Department of Health and Human Services

Publisher

MDPI AG

Subject

Obstetrics and Gynecology,Immunology and Microbiology (miscellaneous),Pediatrics, Perinatology and Child Health

Link

https://www.mdpi.com/2409-515X/9/4/63/pdf

Reference33 articles.

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