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

• Type of Material: Article
• Authors: Amy Brower, American College of Medical Genetics and Genomics (ACMG); Kee Chan, American College of Medical Genetics and Genomics (ACMG); Marc Williams, Geisinger Health System; Susan Berry, University of Minnesota Twin Cities; Robert Currier, University of California San Francisco; Piero Rinaldo, Mayo College; Michele Caggana, New York State Department of Health; Amy Gaviglio, Connectics Consulting; William Wilcox, Emory University; Robert Steiner, University of Wisconsin-Madison; Ingrid A Holm, Harvard Medical School; Jennifer Taylor, Amer Coll Med Genet & Genom ACMG; Jospeh J Orsini, New York State Department of Health; Luca Brunelli, University of Utah; Joanne Adelberg, MedStar Heart and Vascular Institute, Fairfax; Olaf Bodamer, Harvard Medical School; Sarah Viall, Oregon Health and Science University; Curt Scharfe, Yale University; Melissa Wasserstein, Albert Einstein College of Medicine; Jin Y Chen, Harvard University; Maria Escolar, Children’s Hospital of Pittsburgh; Aaron Goldenberg, Case Western Reserve University; Kathryn Swoboda, Massachusetts General Hospital; Can Ficicioglu, Childrens Hospital of Philadelphia; Dieter Matern, Mayo Clinic; Rachel Lee, Texas Department of State Health Services; Michael Watson, Washington University School of Medicine (Adjunct)
• Language: English
• Date: 2022-07-22
• Publisher: FRONTIERS MEDIA SA
• Publication Version: Final Published Version
• Copyright Statement: © 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.
• License: Creative Commons Attribution 4.0 International
• Final Published Version (URL): http://dx.doi.org/10.3389/fgene.2022.867337
• Title of Journal or Parent Work: FRONTIERS IN GENETICS
• Volume: 13
• Start Page: 867337
• End Page: 867337
• Grant/Funding Information: This project has been funded in whole or in part with Federal funds from the NICHD, National Institutes of Health, Department of Health and Human Services, under Contract No. HHSN275201800005C.
• Keywords: Genetics & Heredity; Science & Technology; newborn screening; Life Sciences & Biomedicine; NBSTRN; genomics; ACMG; research
• Research Categories: Health Sciences, Medicine and Surgery

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.