ArticleGenetics in medicine : official journal of the American College of Medical Genetics2024
A systematic framework for selecting gene-condition pairs for inclusion in newborn sequencing panels: Early Check implementation.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed.
- Role of the Gut-Liver-Kidney Axis in Disease Manifestation and Biomarker Alterations.International journal of molecular sciences · 2026Review
- Perspectives on genomic newborn screening studies: design, implementation, and outcomes.Pediatric research · 2026Review
- Newborn screening for type 1 diabetes using genome-based risk scores in the Early Check program.American journal of human genetics · 2026Article
- A multi-dimensional framework for establishing and managing a genomic newborn screening program.European journal of human genetics : EJHG · 2026Article
- Health care providers' perceptions of screening for risk of type 1 diabetes in newborns using genetic risk scores.Journal of community genetics · 2026Article
- Article
- Direct-to-Consumer Genetic Testing.NEJM evidence · 2025Review
- Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program.Nature medicine · 2025Article
- Should newborn genetic testing for autism be introduced?Journal of medical ethics · 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
- Perspectives of parents receiving normal results from genomic newborn screening: a mixed-methods evaluation from the early check program.Frontiers in genetics · 2025Article
- Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection.American journal of human genetics · 2024Article
Corrections and comments
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Authors and funding
23 authors.
Funding
Abstract
purposeResearch is underway worldwide to investigate the feasibility, acceptability, and utility of sequencing-based newborn screening. Different methods have been used to select gene-condition pairs for screening, leading to highly inconsistent gene lists across studies.
methodsEarly Check developed and utilized actionability-based frameworks for evaluating gene-condition pairs for inclusion in newborn panels (panel 1-high actionability, panel 2-possible actionability). A previously developed framework, the Age-based Semi Quantitative Metric (ASQM), was adapted. Increasing ASQM scores, with a maximum of 15, suggest greater actionability. Wilcoxon tests were performed to compare panel 1 gene-condition pairs on the Recommended Uniform Screening Panel (RUSP) with non-RUSP pairs.
resultsIn our first round of assessment, Early Check identified 178 gene-condition pairs for inclusion in panel 1 and 29 for panel 2. Median ASQM scores of RUSP conditions on panel 1 was 12 (range 4 to 15) and non-RUSP was 13 (range 9 to 15). Median scores for panel 2 was 10 (range 6 to 14).
conclusionThe Early Check frameworks provide a transparent, semiquantitative, and reproducible methodology for selecting gene-condition pairs for newborn screening sequencing pilot studies that may inform future integration of genomic sequencing into population-level newborn screening. Collaborative efforts among newborn sequencing studies to establish shared criteria is needed to enhance cross-study comparisons.
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