ArticleJAMA network open2023
Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening.
Article in JAMA network open, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 70 papers, 1 of them a synthesis that pooled it.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
70 citing papers in PubMed, 1 synthesis or guideline pooled it, 77 citations in OpenAlex.
- Evaluating whole genome sequencing for rare diseases in newborn screening: evidence synthesis from a series of systematic reviews.Health technology assessment (Winchester, England) · 2025Pooled it
- Neonatal genetic sequencing as a first-tier option: a real-world clinical implementation study in Northern China.Annals of medicine · 2026Article
- Management change following NGS diagnosis of inborn errors of immunity: The Australasian experience.Journal of human immunity · 2026Article
- Cost-effectiveness of newborn screening for phenylketonuria and congenital hypothyroidism in Hubei, China.BMJ open · 2026Article
- Healthcare professionals' views on expanding newborn screening with or without genomics in France: Results of the SeDeN-p2 study.European journal of human genetics : EJHG · 2026Article
- Progress and Prospects of Newborn Screening in China.International journal of neonatal screening · 2026Review
- Population-based genomic detection of childhood cancer predisposition using newborn dried blood spots.Nature communications · 2026Article
- Hypophosphatasia: Results of a Country-Wide Selective Screening Program Using NGS Technology as a First-Tier Test.International journal of molecular sciences · 2026Article
- To screen or not to screen G6PD deficiency in gNBS: insights from the BabyDetect pilot and current evidence.European journal of human genetics : EJHG · 2026Article
- Perspectives on genomic newborn screening studies: design, implementation, and outcomes.Pediatric research · 2026Review
- Next-generation newborn screening: feasibility of combined genetic and biochemical testing for 95 treatable inherited metabolic disorders.Metabolomics : Official journal of the Metabolomic Society · 2026Review
- Development of Clinical Pathways for Early Diagnosis and Management of SCID, SMA, and XLA Through Newborn Screening in Malaysia.International journal of neonatal screening · 2026Review
- The 2023 clinical laboratory genetics workforce in the United States: trends, challenges, and evolving practices.Human genetics · 2026Article
- Uncovering apparent incomplete penetrance of TSC1/TSC2 variants: Insights from multiple population cohorts and implications for newborn screening.European journal of human genetics : EJHG · 2026Article
- Combined biochemical and genetic analysis improves early diagnosis and prenatal assessment of multiple acyl-CoA dehydrogenase deficiency.World journal of pediatrics : WJP · 2026Article
- A Multi-Stakeholder Perspective on Integrating Genomic Sequencing into Newborn Screening: An Interview Study.International journal of neonatal screening · 2026Article
- Incorporating Next-Generation Sequencing in Newborn Screening for Organic Acidemias.International journal of neonatal screening · 2026Article
- Newborn screening for methylmalonic acidemia: insights from a retrospective analysis in Hefei, China.Orphanet journal of rare diseases · 2026Article
- Data-Related and Methodological Challenges in Assessing the Cost-Effectiveness of Traditional and Genomic Newborn Screening Programs.Applied health economics and health policy · 2026Review
- Concurrent physiologic and gene-based genetic newborn hearing screening in a general population.Human genomics · 2026Article
10 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
28 authors at 10 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Importance: Newborn screening via biochemical tests is in use worldwide. The availability of genetic sequencing has allowed rapid screening for a substantial number of monogenic disorders. However, the outcomes of this strategy have not been evaluated in a general newborn population. Objective: To evaluate the outcomes of applying gene panel sequencing as a first-tier newborn screening test. Design, Setting, and Participants: This cohort study included newborns who were prospectively recruited from 8 screening centers in China between February 21 and December 31, 2021. Neonates with positive results were followed up before July 5, 2022. Exposures: All participants were concurrently screened using dried blood spots. The screen consisted of biochemical screening tests and a targeted gene panel sequencing test for 128 conditions. The biochemical and genomic tests could both detect 43 of the conditions, whereas the other 85 conditions were screened solely by the gene panel. Main Outcomes and Measures: The primary outcomes were the number of patients detected by gene panel sequencing but undetected by the biochemical test. Results: This study prospectively recruited 29 601 newborns (15 357 [51.2%] male). The mean (SD) gestational age was 39.0 (1.5) weeks, and the mean (SD) birth weight was 3273 (457) g. The gene panel sequencing screened 813 infants (2.7%; 95% CI, 2.6%-2.9%) as positive. By the date of follow-up, 402 infants (1.4%; 95% CI, 1.2%-1.5%) had been diagnosed, indicating the positive predictive value was 50.4% (95% CI, 50.0%-53.9%). The gene panel sequencing identified 59 patients undetected by biochemical tests, including 20 patients affected by biochemically and genetically screened disorders and 39 patients affected by solely genetically screened disorders, which translates into 1 out of every 500 newborns (95% CI, 1/385-1/625) benefiting from the implementation of gene panels as a first-tier screening test. Conclusions and Relevance: In this cohort study, the use of gene panel sequencing in a general newborn population as a first-tier screening test improved the detection capability of traditional screening, providing an evidence-based suggestion that it could be considered as a crucial method for first-tier screening.
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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.