ArticleAmerican journal of human genetics2010
Value for money? Array genomic hybridization for diagnostic testing for genetic causes of intellectual disability.
Article in American journal of human genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 2 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.
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Who cites it
32 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Approaches to Incorporation of Preferences into Health Economic Models of Genomic Medicine: A Critical Interpretive Synthesis and Conceptual Framework.Applied health economics and health policy · 2025Pooled it
- An economic analysis of prenatal cytogenetic technologies for sonographically detected fetal anomalies.American journal of medical genetics. Part A · 2014Pooled it
- Comparative effectiveness of next generation genomic sequencing for disease diagnosis: design of a randomized controlled trial in patients with colorectal cancer/polyposis syndromes.Contemporary clinical trials · 2014Trial
- Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis.Human genetics · 2012Trial
- Determining the value of genomics in healthcare.Nature medicine · 2025Review
- Health Care Costs After Genome-Wide Sequencing for Children With Rare Diseases in England and Canada.JAMA network open · 2024Article
- A Cytogenetic Study of Turkish Children with Global Developmental Delay.Journal of pediatric genetics · 2024Article
- Identifying Genetic Etiology in Patients with Intellectual Disability: An Experience in Public Health Services in Northeastern Brazil.Journal of pediatric genetics · 2024Article
- Comparison of the Accuracy in Provisional Diagnosis of 22q11.2 Deletion and Williams Syndromes by Facial Photos in Thai Population Between De-Identified Facial Program and Clinicians.The application of clinical genetics · 2024Article
- Allocating healthcare resources to genomic testing in Canada: latest evidence and current challenges.Journal of community genetics · 2022Article
- Toward the diagnosis of rare childhood genetic diseases: what do parents value most?European journal of human genetics : EJHG · 2021Article
- Optic nerve coloboma as extension of the phenotype of 22q11.23 duplication syndrome: a case report.BMC ophthalmology · 2020Article
- Chromosomal Aberrations in Pediatric Patients with Developmental Delay/Intellectual Disability: A Single-Center Clinical Investigation.BioMed research international · 2019Article
- The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Review
- Cost Effectiveness of Karyotyping, Chromosomal Microarray Analysis, and Targeted Next-Generation Sequencing of Patients with Unexplained Global Developmental Delay or Intellectual Disability.Molecular diagnosis & therapy · 2018Article
- Derivative chromosomes involving 5p large rearranged segments went unnoticed with the use of conventional cytogenetics.Molecular cytogenetics · 2018Article
- A microcosting and cost-consequence analysis of clinical genomic testing strategies in autism spectrum disorder.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- The Current Landscape of Genetic Testing in Cardiovascular Malformations: Opportunities and Challenges.Frontiers in cardiovascular medicine · 2016Review
- Capturing the clinical utility of genomic testing: medical recommendations following pediatric microarray.European journal of human genetics : EJHG · 2015Article
- Clinical and Molecular Cytogenetic Characterisation of Children with Developmental Delay and Dysmorphic Features.Zdravstveno varstvo · 2015Article
Corrections and comments
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Authors and funding
3 authors.
Funding
Abstract
Array genomic hybridization (AGH) provides a higher detection rate than does conventional cytogenetic testing when searching for chromosomal imbalance causing intellectual disability (ID). AGH is more costly than conventional cytogenetic testing, and it remains unclear whether AGH provides good value for money. Decision analytic modeling was used to evaluate the trade-off between costs, clinical effectiveness, and benefit of an AGH testing strategy compared to a conventional testing strategy. The trade-off between cost and effectiveness was expressed via the incremental cost-effectiveness ratio. Probabilistic sensitivity analysis was performed via Monte Carlo simulation. The baseline AGH testing strategy led to an average cost increase of $217 (95% CI $172-$261) per patient and an additional 8.2 diagnoses in every 100 tested (0.082; 95% CI 0.044-0.119). The mean incremental cost per additional diagnosis was $2646 (95% CI $1619-$5296). Probabilistic sensitivity analysis demonstrated that there was a 95% probability that AGH would be cost effective if decision makers were willing to pay $4550 for an additional diagnosis. Our model suggests that using AGH instead of conventional karyotyping for most ID patients provides good value for money. Deterministic sensitivity analysis found that employing AGH after first-line cytogenetic testing had proven uninformative did not provide good value for money when compared to using AGH as first-line testing.
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