Preprint Article Version 1 Preserved in Portico This version is not peer-reviewed

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

Kee Chan
* ,
Zhanzhi Hu
,
Lynn Bush
* ORCID logo ,
Heidi Cope
,
Ingrid A. Holm
ORCID logo ,
Stephen Kingsmore
,
Kevin Wilhelm
,
Curt Scharfe
ORCID logo ,
Amy Brower
ORCID logo
Version 1 : Received: 27 September 2023 / Approved: 28 September 2023 / Online: 29 September 2023 (04:28:14 CEST)

A peer-reviewed article of this Preprint also exists.

Chan, K.; Hu, Z.; Bush, L.W.; Cope, H.; Holm, I.A.; Kingsmore, S.F.; Wilhelm, K.; Scharfe, C.; Brower, A. NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders. Int. J. Neonatal Screen. 2023, 9, 63. Chan, K.; Hu, Z.; Bush, L.W.; Cope, H.; Holm, I.A.; Kingsmore, S.F.; Wilhelm, K.; Scharfe, C.; Brower, A. NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders. Int. J. Neonatal Screen. 2023, 9, 63.

Abstract

Rapid advances in the screening, diagnosis, and treatment of genetic disorders has increased the number of conditions that could be detected through universal newborn screening (NBS). However, addition of conditions to the Recommended Uniform Screening Panel (RUSP) and 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. 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 this resource. Additionally, we discuss ongoing tool development to facilitate 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.

Keywords

newborn screening; genome sequencing; ethical; legal; social implications (ELSI); NBSTRN; public health; databases; online tools; Recommended Uniform Screening Panel (RUSP)

Subject

Public Health and Healthcare, Public Health and Health Services

Copyright: This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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