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Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One)
Amy Brower1, Kee Chan1, Marc Williams2
1American College of Medical Genetics and Genomics (ACMG), Bethesda, MD, United States.
Insights
Newborn screening (NBS) expansion in the US is slow, taking nearly a decade to adopt new tests. This study identified key challenges hindering the expansion of life-saving newborn screening programs nationwide.
Area of Science:
- Genetics
- Public Health
- Pediatrics
Background:
- Population-based newborn screening (NBS) identifies infants with conditions requiring early intervention.
- Genomic advancements promise to expand NBS, but implementation in the US is slow and fragmented.
- Current NBS expansion is typically condition-by-condition and state-by-state.
Purpose of the Study:
- To describe current NBS practices and identify challenges to expansion.
- To outline areas for improvement in NBS programs.
- To suggest models for evaluating NBS changes and improvements.
Main Methods:
- Conducted the NBS Expansion Study involving expert workshops and clinician surveys.
- Analyzed data from state NBS program repositories and published pilot reports.
- Reviewed federal committee reports and developed models to address study findings.
Main Results:
- NBS expansion capacity varies significantly across the US.
- Nationwide adoption of a new NBS condition averages 9.5 years.
- Identified four key factors that delay or complicate NBS expansion.
Conclusions:
- The US faces significant variability and delays in expanding newborn screening.
- Understanding and addressing identified challenges is crucial for timely NBS improvements.
- Modeling approaches can help evaluate and overcome barriers to NBS expansion.
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.
