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

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 t...

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Autores principales: Brower, Amy, Chan, Kee, Williams, Marc, Berry, Susan, Currier, Robert, Rinaldo, Piero, Caggana, Michele, Gaviglio, Amy, Wilcox, William, Steiner, Robert, Holm, Ingrid A., Taylor, Jennifer, Orsini, Joseph J., Brunelli, Luca, Adelberg, Joanne, Bodamer, Olaf, Viall, Sarah, Scharfe, Curt, Wasserstein, Melissa, Chen, Jin Y., Escolar, Maria, Goldenberg, Aaron, Swoboda, Kathryn, Ficicioglu, Can, Matern, Dieter, Lee, Rachel, Watson, Michael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9354846/
https://www.ncbi.nlm.nih.gov/pubmed/35938011
http://dx.doi.org/10.3389/fgene.2022.867337
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author Brower, Amy
Chan, Kee
Williams, Marc
Berry, Susan
Currier, Robert
Rinaldo, Piero
Caggana, Michele
Gaviglio, Amy
Wilcox, William
Steiner, Robert
Holm, Ingrid A.
Taylor, Jennifer
Orsini, Joseph J.
Brunelli, Luca
Adelberg, Joanne
Bodamer, Olaf
Viall, Sarah
Scharfe, Curt
Wasserstein, Melissa
Chen, Jin Y.
Escolar, Maria
Goldenberg, Aaron
Swoboda, Kathryn
Ficicioglu, Can
Matern, Dieter
Lee, Rachel
Watson, Michael
author_facet Brower, Amy
Chan, Kee
Williams, Marc
Berry, Susan
Currier, Robert
Rinaldo, Piero
Caggana, Michele
Gaviglio, Amy
Wilcox, William
Steiner, Robert
Holm, Ingrid A.
Taylor, Jennifer
Orsini, Joseph J.
Brunelli, Luca
Adelberg, Joanne
Bodamer, Olaf
Viall, Sarah
Scharfe, Curt
Wasserstein, Melissa
Chen, Jin Y.
Escolar, Maria
Goldenberg, Aaron
Swoboda, Kathryn
Ficicioglu, Can
Matern, Dieter
Lee, Rachel
Watson, Michael
author_sort Brower, Amy
collection PubMed
description 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.
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spelling pubmed-93548462022-08-06 Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One) Brower, Amy Chan, Kee Williams, Marc Berry, Susan Currier, Robert Rinaldo, Piero Caggana, Michele Gaviglio, Amy Wilcox, William Steiner, Robert Holm, Ingrid A. Taylor, Jennifer Orsini, Joseph J. Brunelli, Luca Adelberg, Joanne Bodamer, Olaf Viall, Sarah Scharfe, Curt Wasserstein, Melissa Chen, Jin Y. Escolar, Maria Goldenberg, Aaron Swoboda, Kathryn Ficicioglu, Can Matern, Dieter Lee, Rachel Watson, Michael Front Genet Genetics 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. Frontiers Media S.A. 2022-07-22 /pmc/articles/PMC9354846/ /pubmed/35938011 http://dx.doi.org/10.3389/fgene.2022.867337 Text en 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. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Brower, Amy
Chan, Kee
Williams, Marc
Berry, Susan
Currier, Robert
Rinaldo, Piero
Caggana, Michele
Gaviglio, Amy
Wilcox, William
Steiner, Robert
Holm, Ingrid A.
Taylor, Jennifer
Orsini, Joseph J.
Brunelli, Luca
Adelberg, Joanne
Bodamer, Olaf
Viall, Sarah
Scharfe, Curt
Wasserstein, Melissa
Chen, Jin Y.
Escolar, Maria
Goldenberg, Aaron
Swoboda, Kathryn
Ficicioglu, Can
Matern, Dieter
Lee, Rachel
Watson, Michael
Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One)
title Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One)
title_full Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One)
title_fullStr Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One)
title_full_unstemmed Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One)
title_short Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One)
title_sort population-based screening of newborns: findings from the nbs expansion study (part one)
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9354846/
https://www.ncbi.nlm.nih.gov/pubmed/35938011
http://dx.doi.org/10.3389/fgene.2022.867337
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