ArticleThe European journal of health economics : HEPAC : health economics in prevention and care2021
Whole exome sequencing in molecular diagnostics of cancer decreases over time: evidence from a cost analysis in the French setting.
Article in The European journal of health economics : HEPAC : health economics in prevention and care, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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The trial behind it
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Who cites it
13 citing papers in PubMed, 20 citations in OpenAlex.
- Diagnostic pathways in developmental disorders: a decade-apart comparison of two multicenter cohorts (2012-2022).European journal of human genetics : EJHG · 2026Article
- Implementing whole genome and transcriptome sequencing for cancer patients in routine healthcare: a comprehensive guide to costing.British journal of cancer · 2026Article
- The cost and cost-effectiveness of whole-exome and whole-genome sequencing: a systematic literature review.European journal of human genetics : EJHG · 2026Review
- Micro-costing of genetic and genomic testing in oncology: a systematic review of laboratory resources and costs.Health economics review · 2026Review
- Microcosting Study of Genomic Profiling for Precision Cancer Medicine: Application from the National Infrastructure for Precision Diagnostics in Norway.The Journal of molecular diagnostics : JMD · 2025Article
- Detecting monogenic obesity: a systematic exome-wide workup of over 500 individuals.International journal of obesity (2005) · 2025Article
- The application of compressed sensing on tumor mutation burden calculation from overlapped pooling sequencing data.BMC bioinformatics · 2025Article
- Review
- A micro-costing study of mass-spectrometry based quantitative proteomics testing applied to the diagnostic pipeline of mitochondrial and other rare disorders.Orphanet journal of rare diseases · 2024Article
- Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting.BMC health services research · 2023Article
- DivBrowse-interactive visualization and exploratory data analysis of variant call matrices.GigaScience · 2022Article
- Mutation burden-orthogonal tumor genomic subtypes delineate responses to immune checkpoint therapy.Journal for immunotherapy of cancer · 2022Article
- Accurate recombination estimation from pooled genotyping and sequencing: a case study on barley.BMC genomics · 2022Article
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 1 country.
Funding
Abstract
objectivesAlthough high-throughput sequencing is revolutionising medicine, data on the actual cost of whole exome sequencing (WES) applications are needed. We aimed at assessing the cost of WES at a French cancer institute in 2015 and 2018.
methodsActual costs of WES application in oncology research were determined using both micro-costing and gross-costing for the years 2015 and 2018, before and after the acquisition of a new sequencer. The entire workflow process of a WES test was tracked, and the number and unit price of each resource were identified at the most detailed level, from library preparation to bioinformatics analyses. In addition, we conducted an ad hoc analysis of the bioinformatics storage costs of data issued from WES analyses.
resultsThe cost of WES has decreased substantially, from €1921 per sample (i.e. cost of €3842 per patient) in 2015 to €804 per sample (i.e. cost of €1,608 per patient) in 2018, representing a decrease of 58%. In the meantime, the cost of bioinformatics storage has increased from €19,836 to €200,711.
conclusionThis study suggests that WES cost has decreased significantly in recent years. WES has become affordable, even though clinical utility and efficiency still need to be confirmed.
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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.