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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.
Frontiers in Genetics
|August 8, 2022
Summary
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.
