ReviewGenetics in medicine : official journal of the American College of Medical Genetics2018
The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study.
Review 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 55 papers.
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.
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Who cites it
55 citing papers in PubMed.
- The Financial Impact of Genetic Diseases in a Pediatric Accountable Care Organization.Frontiers in public health · 2020Trial
- G.AI: an AI-driven platform for phenotype standardization, variant interpretation and structured clinical reporting in rare disease genomic diagnosis.Journal of translational medicine · 2026Article
- Genetic Diagnosis and Discovery Enabled by Large Language Models.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Rapid NGS Analysis on Google Cloud Platform: Performance Benchmark and User Tutorial.Clinical and translational science · 2025Article
- Tracing the evolution of sequencing into the era of genomic medicine.Nature reviews. Genetics · 2025Review
- Functional analysis of human EED variants using Drosophila.Genetics · 2025Article
- PhenoDP: leveraging deep learning for phenotype-based case reporting, disease ranking, and symptom recommendation.Genome medicine · 2025Article
- Copy number variant analysis improves diagnostic yield in a diverse pediatric exome sequencing cohort.NPJ genomic medicine · 2025Article
- Cost-effectiveness analysis of metagenomic next-generation sequencing versus traditional bacterial cultures for postoperative central nervous system infections in critical care settings: a prospective pilot study.Frontiers in cellular and infection microbiology · 2025Article
- Extending the new era of genomic testing into pregnancy management: A proposed model for Australian prenatal services.The Australian & New Zealand journal of obstetrics & gynaecology · 2024Article
- The cost of genetic diagnosis of suspected hereditary pediatric cataracts with whole-exome sequencing from a middle-income country perspective: a mixed costing analysis.Journal of community genetics · 2024Article
- Genetic Discovery Enabled by A Large Language Model.bioRxiv : the preprint server for biology · 2023Article
- Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG).Journal of medical genetics · 2023Article
- Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.NPJ genomic medicine · 2023Article
- Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting.BMC health services research · 2023Article
- Genome-Wide Sequencing Modalities for Children with Unexplained Global Developmental Delay and Intellectual Disabilities-A Narrative Review.Children (Basel, Switzerland) · 2023Review
- Applying whole exome sequencing in a consanguineous population with autism spectrum disorder.International journal of developmental disabilities · 2023Article
- Systematic genetic analysis of pediatric patients with autoinflammatory diseases.Frontiers in genetics · 2023Article
- Genetic diagnosis for adult patients at a genetic clinic.Cold Spring Harbor molecular case studies · 2022Article
- Allocating healthcare resources to genomic testing in Canada: latest evidence and current challenges.Journal of community genetics · 2022Article
Corrections and comments
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Authors and funding
10 authors.
Funding
Abstract
purposeThis study aimed to generate benchmark estimates for the cost, diagnostic yield, and cost per positive diagnosis of diagnostic exome sequencing (ES) in heterogeneous pediatric patient populations and to illustrate how the design of an ES service can influence its cost and yield.
methodsA literature review and Monte Carlo simulations were used to generate benchmark estimates for singleton and trio ES. A cost model for the Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) study, which is testing a proposed delivery model for diagnostic ES in British Columbia, is used to illustrate the potential effects of changing the service design.
resultsThe benchmark diagnostic yield was 34.3% (95% confidence interval (CI): 23.2-46.5) for trio ES and 26.5% (95% CI: 12.9-42.9) for singleton ES. The benchmark cost of delivery was C$6,437 (95% CI: $5,305-$7,704) in 2016 Canadian dollars (US$4,859; 4,391€) for trio ES and C$2,576 (95% CI: $1,993-$3,270) (US$1,944; 1,757€) for singleton ES. Scenario models for CAUSES suggest that alternative service designs could reduce costs but might lead to a higher cost per diagnosis due to lower yields.
conclusionBroad conclusions about the cost-effectiveness of ES should be drawn with caution when relying on studies that use cost or yield assumptions that lie at the extremes of the benchmark ranges.
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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.