ArticleFrontiers in genetics2022
Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One).
Article in Frontiers in genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
16 citing papers in PubMed, 21 citations in OpenAlex.
- Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study.Nature medicine · 2025Article
- Descriptive epidemiology demonstrating the All of Us database as a versatile resource for the rare and undiagnosed disease community.Journal of the American Medical Informatics Association : JAMIA · 2025Article
- Globalizing newborn screening: bridging gaps in genetic diagnosis and treatment.Frontiers in pediatrics · 2025Article
- The Newborn Screening Programme Revisited: An Expert Opinion on the Challenges of Rett Syndrome.Genes · 2024Article
- A Systematic Literature Review on the Global Status of Newborn Screening for Mucopolysaccharidosis II.International journal of neonatal screening · 2024Review
- Charting the Ethical Frontier in Newborn Screening Research: Insights from the NBSTRN ELSI Researcher Needs Survey.International journal of neonatal screening · 2024Article
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
- Long-Term Follow-Up Cares and Check Initiative: A Program to Advance Long-Term Follow-Up in Newborns Identified with a Disease through Newborn Screening.International journal of neonatal screening · 2024Article
- Article
- The "Other E" in ELSI: The Use of Economic Evaluation to Inform the Expansion of Newborn Screening.Archives of pediatrics (Lisle, IL) · 2024Article
- Genomic newborn screening for rare diseases.Nature reviews. Genetics · 2023Review
- NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders.International journal of neonatal screening · 2023Article
- The Progress and Future of US Newborn Screening.International journal of neonatal screening · 2022Review
- Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America.Frontiers in genetics · 2022Review
- Population-based screening of newborns: Findings from the newborn screening expansion study (part two).Frontiers in genetics · 2022Review
- Editorial: DNA-based population screening for precision public health.Frontiers in genetics · 2022Article
Corrections and comments
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Authors and funding
27 authors at 20 institutions in 1 country.
Funding
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.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.