ReviewAmerican journal of human genetics2022
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.
Review in American journal of human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 101 papers.
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Who cites it
101 citing papers in PubMed, 162 citations in OpenAlex.
- Management change following NGS diagnosis of inborn errors of immunity: The Australasian experience.Journal of human immunity · 2026Article
- Progress and Prospects of Newborn Screening in China.International journal of neonatal screening · 2026Review
- Citywide implementation of a rapid whole-genome sequencing program for critically ill pediatric patients.Nature medicine · 2026Article
- Rapid resolution of variants of uncertain significance (VUS). A complementary role for zebrafish in the era of multi-million-dollar therapies.NPJ genomic medicine · 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
- Advancing precision hepatology for rare paediatric liver diseases.European journal of pediatrics · 2026Review
- Role of next generation sequencing in neonatal diagnosis and screening.Journal of neuromuscular diseases · 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
- From weeks to hours: rapid whole-genome sequencing reduces diagnostic odyssey in Menke-Hennekam syndrome-a case report.Journal of medical case reports · 2026Article
- The cost and cost-effectiveness of whole-exome and whole-genome sequencing: a systematic literature review.European journal of human genetics : EJHG · 2026Review
- Article
- Integrating the Genomic Revolution into Newborn Screening: Current Challenges and Future Perspectives.Pediatric reports · 2026Review
- Editorial: Newborn screening for inborn errors of metabolism volume II.Frontiers in pediatrics · 2026Article
- Article
- Health education needs of pregnant women regarding newborn inborn errors of metabolism based on a social ecological model: a qualitative study.Frontiers in public health · 2026Article
- Avoidable under-5 mortality from congenital and genetic disorders: a frontier analysis of GBD 2023 identifying intervention targets.Frontiers in public health · 2026Article
- Residual allelic activity likely underlies the low rates of disease expression for predicted loss-of-function variants in population-scale biobanks.American journal of human genetics · 2025Article
- Genome x Environment analysis of Sudden Unexpected Infant Death unveils etiologic heterogeneity and strong cannabis and genetic disease risks.medRxiv : the preprint server for health sciences · 2025Article
- Benefits and pitfalls in newborn screening for carnitine uptake deficiency: a 4-year single-center experience.Orphanet journal of rare diseases · 2025Article
- Article
41 more citing papers are in PubMed but not listed here.
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Authors and funding
51 authors at 7 institutions in 1 country.
Funding
Abstract
Newborn screening (NBS) dramatically improves outcomes in severe childhood disorders by treatment before symptom onset. In many genetic diseases, however, outcomes remain poor because NBS has lagged behind drug development. Rapid whole-genome sequencing (rWGS) is attractive for comprehensive NBS because it concomitantly examines almost all genetic diseases and is gaining acceptance for genetic disease diagnosis in ill newborns. We describe prototypic methods for scalable, parentally consented, feedback-informed NBS and diagnosis of genetic diseases by rWGS and virtual, acute management guidance (NBS-rWGS). Using established criteria and the Delphi method, we reviewed 457 genetic diseases for NBS-rWGS, retaining 388 (85%) with effective treatments. Simulated NBS-rWGS in 454,707 UK Biobank subjects with 29,865 pathogenic or likely pathogenic variants associated with 388 disorders had a true negative rate (specificity) of 99.7% following root cause analysis. In 2,208 critically ill children with suspected genetic disorders and 2,168 of their parents, simulated NBS-rWGS for 388 disorders identified 104 (87%) of 119 diagnoses previously made by rWGS and 15 findings not previously reported (NBS-rWGS negative predictive value 99.6%, true positive rate [sensitivity] 88.8%). Retrospective NBS-rWGS diagnosed 15 children with disorders that had been undetected by conventional NBS. In 43 of the 104 children, had NBS-rWGS-based interventions been started on day of life 5, the Delphi consensus was that symptoms could have been avoided completely in seven critically ill children, mostly in 21, and partially in 13. We invite groups worldwide to refine these NBS-rWGS conditions and join us to prospectively examine clinical utility and cost effectiveness.
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