Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One).

MedStar author(s):
Citation: Frontiers in Genetics. 13:867337, 2022.PMID: 35938011Institution: MedStar Heart & Vascular Institute, VirginiaForm of publication: Journal ArticleMedline article type(s): Journal ArticleSubject headings: IN PROCESS -- NOT YET INDEXEDYear: 2022ISSN:
  • 1664-8021
Name of journal: Frontiers in geneticsAbstract: Each year, through population-based newborn screening (NBS), 1 in 294 newborns is identified with a condition leading to early treatment and, in some cases, life-saving interventions. Rapid advancements in genomic technologies to screen, diagnose, and treat newborns promise to significantly expand the number of diseases and individuals impacted by NBS. However, expansion of NBS occurs slowly in the United States (US) and almost always occurs condition by condition and state by state with the goal of screening for all conditions on a federally recommended uniform panel. The Newborn Screening Translational Research Network (NBSTRN) conducted the NBS Expansion Study to describe current practices, identify expansion challenges, outline areas for improvement in NBS, and suggest how models could be used to evaluate changes and improvements. The NBS Expansion Study included a workshop of experts, a survey of clinicians, an analysis of data from online repositories of state NBS programs, reports and publications of completed pilots, federal committee reports, and proceedings, and the development of models to address the study findings. This manuscript (Part One) reports on the design, execution, and results of the NBS Expansion Study. The Study found that the capacity to expand NBS is variable across the US and that nationwide adoption of a new condition averages 9.5 years. Four factors that delay and/or complicate NBS expansion were identified. A companion paper (Part Two) presents a use case for each of the four factors and highlights how modeling could address these challenges to NBS expansion. Copyright © 2022 Brower, Chan, Williams, Berry, Currier, Rinaldo, Caggana, Gaviglio, Wilcox, Steiner, Holm, Taylor, Orsini, Brunelli, Adelberg, Bodamer, Viall, Scharfe, Wasserstein, Chen, Escolar, Goldenberg, Swoboda, Ficicioglu, Matern, Lee and Watson.All authors: Adelberg J, Berry S, Bodamer O, Brower A, Brunelli L, Caggana M, Chan K, Chen JY, Currier R, Escolar M, Ficicioglu C, Gaviglio A, Goldenberg A, Holm IA, Lee R, Matern D, Orsini JJ, Rinaldo P, Scharfe C, Steiner R, Swoboda K, Taylor J, Viall S, Wasserstein M, Watson M, Wilcox W, Williams MFiscal year: FY2023Digital Object Identifier: Date added to catalog: 2022-09-26
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Journal Article MedStar Authors Catalog Article 35938011 Available 35938011

Each year, through population-based newborn screening (NBS), 1 in 294 newborns is identified with a condition leading to early treatment and, in some cases, life-saving interventions. Rapid advancements in genomic technologies to screen, diagnose, and treat newborns promise to significantly expand the number of diseases and individuals impacted by NBS. However, expansion of NBS occurs slowly in the United States (US) and almost always occurs condition by condition and state by state with the goal of screening for all conditions on a federally recommended uniform panel. The Newborn Screening Translational Research Network (NBSTRN) conducted the NBS Expansion Study to describe current practices, identify expansion challenges, outline areas for improvement in NBS, and suggest how models could be used to evaluate changes and improvements. The NBS Expansion Study included a workshop of experts, a survey of clinicians, an analysis of data from online repositories of state NBS programs, reports and publications of completed pilots, federal committee reports, and proceedings, and the development of models to address the study findings. This manuscript (Part One) reports on the design, execution, and results of the NBS Expansion Study. The Study found that the capacity to expand NBS is variable across the US and that nationwide adoption of a new condition averages 9.5 years. Four factors that delay and/or complicate NBS expansion were identified. A companion paper (Part Two) presents a use case for each of the four factors and highlights how modeling could address these challenges to NBS expansion. Copyright © 2022 Brower, Chan, Williams, Berry, Currier, Rinaldo, Caggana, Gaviglio, Wilcox, Steiner, Holm, Taylor, Orsini, Brunelli, Adelberg, Bodamer, Viall, Scharfe, Wasserstein, Chen, Escolar, Goldenberg, Swoboda, Ficicioglu, Matern, Lee and Watson.

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