ArticleThe Journal of pediatrics2019
An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening.
Article in The Journal of pediatrics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
59 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Principles of Genomic Newborn Screening Programs: A Systematic Review.JAMA network open · 2021Pooled it
- Trial
- Citywide implementation of a rapid whole-genome sequencing program for critically ill pediatric patients.Nature medicine · 2026Article
- Perspectives on genomic newborn screening studies: design, implementation, and outcomes.Pediatric research · 2026Review
- Deciding "what" to screen for and "when": The importance of natural history information.American journal of human genetics · 2026Review
- A qualitative study exploring young adult's attitudes towards adopting whole genome sequencing into newborn screening programs.European journal of human genetics : EJHG · 2026Article
- A multi-dimensional framework for establishing and managing a genomic newborn screening program.European journal of human genetics : EJHG · 2026Article
- Concurrent physiologic and gene-based genetic newborn hearing screening in a general population.Human genomics · 2026Article
- Next-generation sequencing in newborn screening: Current status, challenges, and future perspectives.Pediatric investigation · 2026Review
- Article
- Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program.Nature medicine · 2025Article
- Public preferences for the value and implementation of genomic newborn screening: Insights from two discrete choice experiments in Australia.American journal of human genetics · 2025Article
- Data-driven consideration of genetic disorders for global genomic newborn screening programs.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- TREAT: systematic and inclusive selection process of genes for genomic newborn screening as part of the Screen4Care project.Orphanet journal of rare diseases · 2025Article
- Universal newborn screening using genome sequencing: early experience from the GUARDIAN study.Pediatric research · 2025Review
- Actionability of Genetic Variants in Diabetes: Core Aspects and Applied Examples.Diabetes spectrum : a publication of the American Diabetes Association · 2025Article
- Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability.International journal of neonatal screening · 2024Article
- A systematic framework for selecting gene-condition pairs for inclusion in newborn sequencing panels: Early Check implementation.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Measuring perceived utility of genomic sequencing: Development and validation of the GENEtic Utility (GENE-U) scale for adult screening.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Charting the Ethical Frontier in Newborn Screening Research: Insights from the NBSTRN ELSI Researcher Needs Survey.International journal of neonatal screening · 2024Article
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Authors and funding
18 authors.
Funding
Abstract
objectiveTo assess the performance of a standardized, age-based metric for scoring clinical actionability to evaluate conditions for inclusion in newborn screening and compare it with the results from other contemporary methods. STUDY
designThe North Carolina Newborn Exome Sequencing for Universal Screening study developed an age-based, semiquantitative metric to assess the clinical actionability of gene-disease pairs and classify them with respect to age of onset or timing of interventions. This categorization was compared with the gold standard Recommended Uniform Screening Panel and other methods to evaluate gene-disease pairs for newborn genomic sequencing.
resultsWe assessed 822 gene-disease pairs, enriched for pediatric onset of disease and suspected actionability. Of these, 466 were classified as having childhood onset and high actionability, analogous to conditions selected for the Recommended Uniform Screening Panel core panel. Another 245 were classified as having childhood onset and low to no actionability, 25 were classified as having adult onset and high actionability, 19 were classified as having adult onset and low to no actionability, and 67 were excluded due to controversial evidence and/or prenatal onset.
conclusionsThis study describes a novel method to facilitate decisions about the potential use of genomic sequencing for newborn screening. These categories may assist parents and physicians in making informed decisions about the disclosure of results from voluntary genomic sequencing in children.
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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.