ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
Meeting the challenges of implementing rapid genomic testing in acute pediatric care.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 91 papers, 4 of them syntheses that pooled it.
What it found
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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.
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Who cites it
91 citing papers in PubMed, 4 syntheses or guidelines pooled it.
- Benefits and barriers to broad implementation of genomic sequencing in the NICU.American journal of human genetics · 2025Pooled it
- What is the power of a genomic multidisciplinary team approach? A systematic review of implementation and sustainability.European journal of human genetics : EJHG · 2024Pooled it
- A systematic review of knowledge, attitude and practice of pharmacogenomics in pediatric oncology patients.Pharmacology research & perspectives · 2023Pooled it
- Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Pooled it
- An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm.American journal of human genetics · 2020Trial
- A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants.American journal of human genetics · 2019Trial
- Cost analysis of hospitalized children suspected of rare genetic diseases.Orphanet journal of rare diseases · 2026Article
- Cost-effectiveness of paediatric rapid genomic testing: a commentary.International journal for advancing practice · 2026Article
- From tradition to transformation: evolving models of care in clinical genetics.Current opinion in pediatrics · 2025Review
- Next-generation nephrology: part 1-an aid for genetic and genomic testing in pediatric nephrology.Pediatric nephrology (Berlin, Germany) · 2025Review
- Article
- View of healthcare professionals on ultra-rapid genome sequencing and its future implementation in clinical practice for critically ill children.European journal of human genetics : EJHG · 2025Article
- Transforming NICU care: rapid WES and transcriptomics-validation, social impact, and cost analysis.European journal of pediatrics · 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
- SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns.American journal of human genetics · 2025Article
- A micro-costing study of mass-spectrometry based quantitative proteomics testing applied to the diagnostic pipeline of mitochondrial and other rare disorders.Orphanet journal of rare diseases · 2024Article
- Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access.Journal of medical genetics · 2024Article
- Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder.European journal of human genetics : EJHG · 2024Article
- A rare homozygous ALX4 mutation in a Bangladeshi girl with frontonasal dysplasia type-2 (FND2).Heliyon · 2024Article
- Non-Genetic Healthcare Providers' Experiences and Perspectives with Rapid Genome-Wide Sequencing in Canadian Neonatal Intensive Care Units.Children (Basel, Switzerland) · 2024Article
31 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
23 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThe purpose of the study was to implement and prospectively evaluate the outcomes of a rapid genomic diagnosis program at two pediatric tertiary centers.
methodsRapid singleton whole-exome sequencing (rWES) was performed in acutely unwell pediatric patients with suspected monogenic disorders. Laboratory and clinical barriers to implementation were addressed through continuous multidisciplinary review of process parameters. Diagnostic and clinical utility and cost-effectiveness of rWES were assessed.
resultsOf 40 enrolled patients, 21 (52.5%) received a diagnosis, with median time to report of 16 days (range 9-109 days). A result was provided during the first hospital admission in 28 of 36 inpatients (78%). Clinical management changed in 12 of the 21 diagnosed patients (57%), including the provision of lifesaving treatment, avoidance of invasive biopsies, and palliative care guidance. The cost per diagnosis was AU$13,388 (US$10,453). Additional cost savings from avoidance of planned tests and procedures and reduced length of stay are estimated to be around AU$543,178 (US$424,101). The clear relative advantage of rWES, joint clinical and laboratory leadership, and the creation of a multidisciplinary "rapid team" were key to successful implementation.
conclusionRapid genomic testing in acute pediatrics is not only feasible but also cost-effective, and has high diagnostic and clinical utility. It requires a whole-of-system approach for successful implementation.
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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.