Back to Search Start Over

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

Authors :
Amy Brower
Kee Chan
Marc Williams
Susan Berry
Robert Currier
Piero Rinaldo
Michele Caggana
Amy Gaviglio
William Wilcox
Robert Steiner
Ingrid A. Holm
Jennifer Taylor
Joseph J. Orsini
Luca Brunelli
Joanne Adelberg
Olaf Bodamer
Sarah Viall
Curt Scharfe
Melissa Wasserstein
Jin Y. Chen
Maria Escolar
Aaron Goldenberg
Kathryn Swoboda
Can Ficicioglu
Dieter Matern
Rachel Lee
Michael Watson
Source :
Frontiers in Genetics, Vol 13 (2022)
Publication Year :
2022
Publisher :
Frontiers Media S.A., 2022.

Abstract

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.

Details

Language :
English
ISSN :
16648021
Volume :
13
Database :
Directory of Open Access Journals
Journal :
Frontiers in Genetics
Publication Type :
Academic Journal
Accession number :
edsdoj.69e4a7a69f5f45cab99bfe2d9ff3fbdd
Document Type :
article
Full Text :
https://doi.org/10.3389/fgene.2022.867337