ArticleNPJ genomic medicine2021
Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease.
Article in NPJ genomic medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. It is linked to trial NCT03385876 (Rapid Whole Genome Sequencing), which is not on this map. Cited by 48 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.
Rapid Whole Genome Sequencing (rWGS): Rapid Genomic Sequencing for Acutely Ill Patients and the Collection, Storage, Analysis, and Distribution of Biological Samples, Genomic and Clinical Data
Who cites it
48 citing papers in PubMed, 1 synthesis or guideline pooled it, 70 citations in OpenAlex.
- Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta-Analysis.Prenatal diagnosis · 2026Pooled it
- Genetic Evaluation Practices for Neonates with Congenital Heart Disease in Pediatric Cardiac Intensive Care Units: Findings from a Multi-institutional Survey.Pediatric cardiology · 2026Article
- Rapid whole-genome sequencing in the pediatric intensive care unit: from etiologic diagnosis to precision management-a narrative review.Translational pediatrics · 2026Review
- Rapid genomic sequencing in the NICU: Who to test and why.European journal of human genetics : EJHG · 2026Review
- Outcome of Tetralogy of Fallot Through Initial Palliation and Surgical Repair.Pediatric cardiology · 2026Article
- Rapid Genome Sequencing Shows Diagnostic Utility in Infants With Congenital Heart Defects.Circulation. Genomic and precision medicine · 2026Article
- Prenatal Whole-Genome Sequencing for Fetal Anomalies: Diagnostic Performance, Challenges, and Clinical Implications.International journal of molecular sciences · 2026Review
- Diagnostic yield and genetic landscape of rare pediatric diseases in Vietnam identified by exome sequencing.Scientific reports · 2026Article
- Diagnostic yield of exome and genome sequencing for critically ill pediatric cardiac patients.Translational pediatrics · 2026Article
- Genetics of Congenital Heart Disease.Clinics in perinatology · 2025Review
- The Diagnostic Value of Copy Number Variants in Genetic Cardiomyopathies and Channelopathies.Journal of cardiovascular development and disease · 2025Review
- MPSE identifies newborns for whole genome sequencing within 48 h of NICU admission.NPJ genomic medicine · 2025Article
- Current and future diagnostics of congenital heart disease (CHD).Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2025Article
- Evaluating first-line genetic testing strategies for inpatients with congenital heart defects.Journal of genetic counseling · 2025Article
- Evaluation of Exome and Genome Sequencing for Critically Ill Pediatric Cardiac Patients.Research square · 2025Article
- Dysmorphology-Based Prediction Model for Genetic Disorders in Infants With Congenital Heart Disease.Circulation. Genomic and precision medicine · 2025Article
- Rapid Whole-Genome Sequencing in Critically Ill Infants and Children with Suspected, Undiagnosed Genetic Diseases: Evolution to a First-Tier Clinical Laboratory Test in the Era of Precision Medicine.Children (Basel, Switzerland) · 2025Review
- Genetic impact of copy number variations on congenital heart defects: Current insights and future directions.Global medical genetics · 2025Review
- Taming large-scale genomic analyses via sparsified genomics.Nature communications · 2025Article
- Uncovering potential causal genes for undiagnosed congenital anomalies using an in-house pipeline for trio-based whole-genome sequencing.Human genomics · 2025Article
Corrections and comments
- Erratum issued
- Erratum issued
Authors and funding
13 authors at 2 institutions in 1 country.
Funding
Abstract
Congenital heart disease (CHD) is the most common congenital anomaly and a major cause of infant morbidity and mortality. While morbidity and mortality are highest in infants with underlying genetic conditions, molecular diagnoses are ascertained in only ~20% of cases using widely adopted genetic tests. Furthermore, cost of care for children and adults with CHD has increased dramatically. Rapid whole genome sequencing (rWGS) of newborns in intensive care units with suspected genetic diseases has been associated with increased rate of diagnosis and a net reduction in cost of care. In this study, we explored whether the clinical utility of rWGS extends to critically ill infants with structural CHD through a retrospective review of rWGS study data obtained from inpatient infants < 1 year with structural CHD at a regional children's hospital. rWGS diagnosed genetic disease in 46% of the enrolled infants. Moreover, genetic disease was identified five times more frequently with rWGS than microarray ± gene panel testing in 21 of these infants (rWGS diagnosed 43% versus 10% with microarray ± gene panels, p = 0.02). Molecular diagnoses ranged from syndromes affecting multiple organ systems to disorders limited to the cardiovascular system. The average daily hospital spending was lower in the time period post blood collection for rWGS compared to prior (p = 0.003) and further decreased after rWGS results (p = 0.000). The cost was not prohibitive to rWGS implementation in the care of this cohort of infants. rWGS provided timely actionable information that impacted care and there was evidence of decreased hospital spending around rWGS implementation.
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.