ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature.
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 74 papers, 4 of them syntheses 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.
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Who cites it
74 citing papers in PubMed, 4 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 clinical utility of exome and genome sequencing across clinical indications: a systematic review.Human genetics · 2021Pooled it
- Diagnosis of hepatic glycogen storage disease patients with overlapping clinical symptoms by massively parallel sequencing: a systematic review of literature.Orphanet journal of rare diseases · 2020Pooled 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
- Randomized prospective evaluation of genome sequencing versus standard-of-care as a first molecular diagnostic test.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Trial
- Optimized trio genome sequencing (OTGS) as a first-tier genetic test in critically ill infants: practice in China.Human genetics · 2020Trial
- Exome sequencing early in outpatient evaluation in NCGENES 2: Changing the course of the diagnostic odyssey?HGG advances · 2026Article
- Picking Up the Phone: Clinical Perspectives on Recontacting Patients and Their Families.Journal of paediatrics and child health · 2026Review
- Expanding Access to Genome Sequencing: Higher Diagnostic Yield in Self-Referred Participants From the CincyKidsSeq Study and Implications for Hybrid Models of Genetic Service Delivery.Clinical genetics · 2026Article
- Expanding beyond the exome: identifying pediatric patients best suited for genome sequencing.Journal of community genetics · 2026Article
- Determining the value of genomics in healthcare.Nature medicine · 2025Review
- Opportunities and Limitations of Modern High Throughput Sequencing in Invasive Prenatal Diagnostics.Geburtshilfe und Frauenheilkunde · 2025Article
- Genomic sequencing in diverse and underserved pediatric populations: Parent perspectives on understanding, uncertainty, psychosocial impact, and personal utility of results.Genetics in medicine : official journal of the American College of Medical Genetics · 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
- Early Intervention services in the era of genomic medicine: setting a research agenda.Pediatric research · 2025Review
- Breaking barriers: fostering equitable access to pediatric genomics through innovative care models and technologies.Pediatric research · 2025Review
- Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder.European journal of human genetics : EJHG · 2024Article
- Measuring perceived utility of genomic sequencing: Development and validation of the GENEtic Utility (GENE-U) scale for pediatric diagnostic testing.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy.European journal of human genetics : EJHG · 2024Article
- Article
14 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeAvailability of clinical genomic sequencing (CGS) has generated questions about the value of genome and exome sequencing as a diagnostic tool. Analysis of reported CGS application can inform uptake and direct further research. This scoping literature review aims to synthesize evidence on the clinical and economic impact of CGS.
methodsPubMed, Embase, and Cochrane were searched for peer-reviewed articles published between 2009 and 2017 on diagnostic CGS for infant and pediatric patients. Articles were classified according to sample size and whether economic evaluation was a primary research objective. Data on patient characteristics, clinical setting, and outcomes were extracted and narratively synthesized.
resultsOf 171 included articles, 131 were case reports, 40 were aggregate analyses, and 4 had a primary economic evaluation aim. Diagnostic yield was the only consistently reported outcome. Median diagnostic yield in aggregate analyses was 33.2% but varied by broad clinical categories and test type.
conclusionReported CGS use has rapidly increased and spans diverse clinical settings and patient phenotypes. Economic evaluations support the cost-saving potential of diagnostic CGS. Multidisciplinary implementation research, including more robust outcome measurement and economic evaluation, is needed to demonstrate clinical utility and cost-effectiveness of CGS.
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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.