ArticleGenetics in medicine : official journal of the American College of Medical Genetics2017
A curated gene list for reporting results of newborn genomic sequencing.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02422511 (Genomic Sequencing for Childhood Risk and Newborn Illness), which is not on this map. Cited by 83 papers, 2 of them syntheses 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.
Genomic Sequencing for Childhood Risk and Newborn Illness (The BabySeq Project)
Who cites it
83 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- International policies guiding the selection, analysis, and clinical management of secondary findings from genomic sequencing: A systematic review.American journal of human genetics · 2024Pooled it
- Principles of Genomic Newborn Screening Programs: A Systematic Review.JAMA network open · 2021Pooled it
- Effects of participation in a U.S. trial of newborn genomic sequencing on parents at risk for depression.Journal of genetic counseling · 2022Trial
- Quantifying Downstream Healthcare Utilization in Studies of Genomic Testing.Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research · 2020Trial
- The BabySeq project: implementing genomic sequencing in newborns.BMC pediatrics · 2018Trial
- 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 multicenter descriptive study of neonatal-onset urea cycle disorder patients hospitalized in level IV NICUs.Journal of perinatology : official journal of the California Perinatal Association · 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
- Designing inclusive newborn sequencing research: insights from parents in underrepresented communities.BMC medical genomics · 2026Article
- Young adult perspectives regarding receiving medically actionable gene testing results for newborns: A qualitative investigation.Journal of community genetics · 2026Article
- Article
- Expert consensus on the combined screening of genes and biomarkers for neonatal diseases.World journal of pediatrics : WJP · 2026Review
- GenRiskPro: A Comprehensive Whole-Genome Sequencing Analysis Platform for Clinical and Wellness Applications.Computational and structural biotechnology journal · 2026Article
- Article
- 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
- Article
- Family genetic risk communication and reverse cascade testing in the BabySeq project.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
23 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors.
Funding
Abstract
purposeGenomic sequencing (GS) for newborns may enable detection of conditions for which early knowledge can improve health outcomes. One of the major challenges hindering its broader application is the time it takes to assess the clinical relevance of detected variants and the genes they impact so that disease risk is reported appropriately.
methodsTo facilitate rapid interpretation of GS results in newborns, we curated a catalog of genes with putative pediatric relevance for their validity based on the ClinGen clinical validity classification framework criteria, age of onset, penetrance, and mode of inheritance through systematic evaluation of published evidence. Based on these attributes, we classified genes to guide the return of results in the BabySeq Project, a randomized, controlled trial exploring the use of newborn GS (nGS), and used our curated list for the first 15 newborns sequenced in this project.
resultsHere, we present our curated list for 1,514 gene-disease associations. Overall, 954 genes met our criteria for return in nGS. This reference list eliminated manual assessment for 41% of rare variants identified in 15 newborns.
conclusionOur list provides a resource that can assist in guiding the interpretive scope of clinical GS for newborns and potentially other populations.Genet Med advance online publication 12 January 2017.
Indexed as
Identifiers
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.