ArticleThe Lancet. Respiratory medicine2015
Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings.
Article in The Lancet. Respiratory medicine, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 225 papers, 4 of them syntheses 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.
Fast Exome for Diagnosis of Congenital Conditions in Infants Under 12 Months of Age Hospitalized in Intensive Care Unit
Study on Early Genetic Screening and Precise Strategy of Neonatal Critical Illness
Who cites it
225 citing papers in PubMed, 4 syntheses or guidelines pooled it, 405 citations in OpenAlex.
- Benefits and barriers to broad implementation of genomic sequencing in the NICU.American journal of human genetics · 2025Pooled it
- Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment.Archives of public health = Archives belges de sante publique · 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
- Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Pooled it
- Influence of Genetic Information on Neonatologists' Decisions: A Psychological Experiment.Pediatrics · 2022Trial
- Trial
- A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants.American journal of human genetics · 2020Trial
- 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
- Optimized trio genome sequencing (OTGS) as a first-tier genetic test in critically ill infants: practice in China.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
- Perceived Benefits, Risks, and Utility of Newborn Genomic Sequencing in the BabySeq Project.Pediatrics · 2019Trial
- Newborn Sequencing in Genomic Medicine and Public Health.Pediatrics · 2017Trial
- Article
- Rapid genomic sequencing in the NICU: Who to test and why.European journal of human genetics : EJHG · 2026Review
- Critically Ill Children Frequently Receive Medications with Established but Unused Pharmacogenomic Guidelines: Actionable Findings from an Integrated Electronic Medical Record and Exome Sequencing Study.medRxiv : the preprint server for health sciences · 2026Article
- Article
- Provider Perceptions of the Impact of Rapid Whole Genome Sequencing on Care and Management.Research square · 2026Article
- Next-generation sequencing in newborn screening: Current status, challenges, and future perspectives.Pediatric investigation · 2026Review
- Expert consensus on the combined screening of genes and biomarkers for neonatal diseases.World journal of pediatrics : WJP · 2026Review
- Managing the Uncertainty of "Precision" While Navigating Goals of Care: A Framework for Collaborative Interpretation of Complex Genomic Testing Results in Critically-Ill Neonates.Children (Basel, Switzerland) · 2025Article
165 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
24 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundGenetic disorders and congenital anomalies are the leading causes of infant mortality. Diagnosis of most genetic diseases in neonatal and paediatric intensive care units (NICU and PICU) is not sufficiently timely to guide acute clinical management. We used rapid whole-genome sequencing (STATseq) in a level 4 NICU and PICU to assess the rate and types of molecular diagnoses, and the prevalence, types, and effect of diagnoses that are likely to change medical management in critically ill infants.
methodsWe did a retrospective comparison of STATseq and standard genetic testing in a case series from the NICU and PICU of a large children's hospital between Nov 11, 2011, and Oct 1, 2014. The participants were families with an infant younger than 4 months with an acute illness of suspected genetic cause. The intervention was STATseq of trios (both parents and their affected infant). The main measures were the diagnostic rate, time to diagnosis, and rate of change in management after standard genetic testing and STATseq.
findings20 (57%) of 35 infants were diagnosed with a genetic disease by use of STATseq and three (9%) of 32 by use of standard genetic testing (p=0·0002). Median time to genome analysis was 5 days (range 3-153) and median time to STATseq report was 23 days (5-912). 13 (65%) of 20 STATseq diagnoses were associated with de-novo mutations. Acute clinical usefulness was noted in 13 (65%) of 20 infants with a STATseq diagnosis, four (20%) had diagnoses with strongly favourable effects on management, and six (30%) were started on palliative care. 120-day mortality was 57% (12 of 21) in infants with a genetic diagnosis.
interpretationIn selected acutely ill infants, STATseq had a high rate of diagnosis of genetic disorders. Most diagnoses altered the management of infants in the NICU or PICU. The very high infant mortality rate indicates a substantial need for rapid genomic diagnoses to be allied with a novel framework for precision medicine for infants in NICU and PICU who are diagnosed with genetic diseases to improve outcomes.
fundingEunice Kennedy Shriver National Institute of Child Health and Human Development, National Human Genome Research Institute, and National Center for Advancing Translational Sciences.
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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.