ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Genome-wide sequencing in acutely ill infants: genomic medicine's critical application?
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 2 of them syntheses that pooled it.
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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.
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Who cites it
30 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Measures of Utility Among Studies of Genomic Medicine for Critically Ill Infants: A Systematic Review.JAMA network open · 2022Pooled it
- The full spectrum of ethical issues in pediatric genome-wide sequencing: a systematic qualitative review.BMC pediatrics · 2021Pooled it
- Influence of Genetic Information on Neonatologists' Decisions: A Psychological Experiment.Pediatrics · 2022Trial
- 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
- Accelerating genetic diagnosis in the NICU: neonatologist-driven rapid whole genome sequencing.Scientific reports · 2026Article
- 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
- How Neonatologists Use Genetic Information.The Journal of pediatrics · 2025Article
- BLEND: a fast, memory-efficient and accurate mechanism to find fuzzy seed matches in genome analysis.NAR genomics and bioinformatics · 2023Article
- Hospital-level variation in genetic testing in children's hospitals' neonatal intensive care units from 2016 to 2021.Genetics in medicine : official journal of the American College of Medical Genetics · 2023Article
- Article
- Real-world economic evaluation of prospective rapid whole-genome sequencing compared to a matched retrospective cohort of critically ill pediatric patients in the United States.The pharmacogenomics journal · 2022Article
- Perspectives of United States neonatologists on genetic testing practices.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Genome sequencing as a first-line diagnostic test for hospitalized infants.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- From molecules to genomic variations: Accelerating genome analysis via intelligent algorithms and architectures.Computational and structural biotechnology journal · 2022Review
- Preferences and values for rapid genomic testing in critically ill infants and children: a discrete choice experiment.European journal of human genetics : EJHG · 2021Article
- Parental Attitudes Toward Clinical Genomic Sequencing in Children With Critical Cardiac Disease.Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies · 2021Article
- The Use of Whole Genome and Exome Sequencing for Newborn Screening: Challenges and Opportunities for Population Health.Frontiers in pediatrics · 2021Review
- The role of exome sequencing in newborn screening for inborn errors of metabolism.Nature medicine · 2020Article
- Exome sequencing compared with standard genetic tests for critically ill infants with suspected genetic conditions.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
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9 authors.
Funding
Abstract
Diagnostic genome-wide sequencing (exome or genome sequencing and data analysis for high-penetrance disease-causing variants) in acutely ill infants appears to be clinically useful, but the value of this diagnostic test should be rigorously demonstrated before it is accepted as a standard of care. This white paper was developed by the Paediatric Task Team of the Global Alliance for Genomics and Health's Regulatory and Ethics Work Stream to address the question of how we can determine the clinical value of genome-wide sequencing in infants in an intensive care setting. After reviewing available clinical and ethics literature on this question, we conclude that evaluating diagnostic genome-wide sequencing as a comprehensive scan for major genetic disease (rather than as a large panel of single-gene tests) provides a practical approach to assessing its clinical value in acutely ill infants. Comparing the clinical value of diagnostic genome-wide sequencing to chromosomal microarray analysis, the current evidence-based standard of care, per case of serious genetic disease diagnosed provides a practical means of assessing clinical value. Scientifically rigorous studies of this kind are needed to determine if clinical genome-wide sequencing should be established as a standard of care supported by healthcare systems and insurers for diagnosis of genetic disease in seriously ill newborn infants.
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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.