ArticleGenetics in medicine : official journal of the American College of Medical Genetics2017
A microcosting and cost-consequence analysis of clinical genomic testing strategies in autism spectrum disorder.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 2 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
43 citing papers in PubMed, 2 syntheses or guidelines pooled 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
- Economic evaluation of genomic sequencing in the paediatric population: a critical review.European journal of human genetics : EJHG · 2018Pooled it
- Short-term costs of integrating whole-genome sequencing into primary care and cardiology settings: a pilot randomized trial.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Trial
- Systematic evaluation of long-read and short-read sequencing in neurological disorders diagnosis: a direct comparison study of 310 patients.NPJ genomic medicine · 2026Article
- Is next generation sequencing for the diagnosis of rare diseases worth its cost? A user-based approach to valuation.The European journal of health economics : HEPAC : health economics in prevention and care · 2026Article
- The cost and cost-effectiveness of whole-exome and whole-genome sequencing: a systematic literature review.European journal of human genetics : EJHG · 2026Review
- Cost analysis of hospitalized children suspected of rare genetic diseases.Orphanet journal of rare diseases · 2026Article
- Article
- Exome Sequencing in the Diagnostic Pathway for Suspected Rare Genetic Diseases: Does the Order of Testing Affect its Cost-Effectiveness?Applied health economics and health policy · 2025Article
- Advances in chromosomal microarray analysis: Transforming neurology and neurosurgery.Brain & spine · 2025Review
- Development of a microcosting protocol to determine the economic cost of diagnostic genomic testing for rare diseases in Australia.BMJ open · 2023Article
- The cost-effectiveness of whole genome sequencing in neurodevelopmental disorders.Scientific reports · 2023Article
- Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting.BMC health services research · 2023Article
- Continuing the sequence? Towards an economic evaluation of whole genome sequencing for the diagnosis of rare diseases in Scotland.Journal of community genetics · 2022Article
- Allocating healthcare resources to genomic testing in Canada: latest evidence and current challenges.Journal of community genetics · 2022Article
- Valuing genetic and genomic testing in France: current challenges and latest evidence.Journal of community genetics · 2022Article
- Genomic architecture of fetal central nervous system anomalies using whole-genome sequencing.NPJ genomic medicine · 2022Article
- The Economic, Medical and Psychosocial Consequences of Whole Genome Sequencing for the Genetic Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study Protocol.Frontiers in genetics · 2022Article
- Whole exome sequencing in molecular diagnostics of cancer decreases over time: evidence from a cost analysis in the French setting.The European journal of health economics : HEPAC : health economics in prevention and care · 2021Article
- Utility of Genetic Testing from the Perspective of Parents/Caregivers: A Scoping Review.Children (Basel, Switzerland) · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
PurposeWhole-exome (WES) and whole-genome sequencing (WGS) increase the diagnostic yield in autism spectrum disorder (ASD) compared to chromosomal microarray (CMA), but there have been no comprehensive cost analyses. The objective was to perform such an assessment of CMA, WES, and WGS and compare the incremental cost per additional positive finding in hypothetical testing scenarios.MethodsFive-year patient and program costs were estimated from an institutional perspective. WES and WGS estimates were based on HiSeq 2500 with an additional WGS estimate for HiSeq X platforms. Parameter uncertainty was assessed with probabilistic and deterministic sensitivity analysis.ResultsThe cost per ASD sample was CAD$1,655 (95% CI: 1,611; 1,699) for WES, CAD$2,851 (95% CI: 2,750; 2,956) for WGS on HiSeq X, and CAD$5,519 (95% CI: 5,244; 5,785) on HiSeq 2500, compared to CAD$744 (95% CI 714, 773) for CMA. The incremental cost was over CAD$25,000 per additional positive finding if CMA was replaced by newer technology.ConclusionWhile costs for WES and WGS remain high, future reductions in material and equipment costs, and increased understanding of newly discovered variants and variants of unknown significance will lead to improved value.
Indexed as
Identifiers
28471434What 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.