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. 2023 Apr 21;23(1):386.
doi: 10.1186/s12913-023-09373-z.

Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting

A L Soilly  1   2 , C Robert-Viard  2   3 , C Besse  4 , A L Bruel  5 , B Gerard  6 , A Boland  4 , A Piton  6 , Y Duffourd  5 , J Muller  6   7   8 , C Poë  5 , T Jouan  5 , S El Doueiri  9 , L Faivre  5   10 , D Bacq-Daian  4 , B Isidor  11 , D Genevieve  12 , S Odent  13   14 , N Philip  15 , M Doco-Fenzy  16   17 , D Lacombe  18 , M L Asensio  3 , J F Deleuze  4 , C Binquet  3 ; DISSEQ Investigators Group; C Thauvin-Robinet  5   10 , C Lejeune  19
Collaborators, Affiliations

Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting

A L Soilly et al. BMC Health Serv Res. .

Abstract

Background: With the development of next generation sequencing technologies in France, exome sequencing (ES) has recently emerged as an opportunity to improve the diagnosis rate of patients presenting an intellectual disability (ID). To help French policy makers determine an adequate tariff for ES, we aimed to assess the unit cost per ES diagnostic test for ID from the preparation of the pre-analytical step until the report writing step and to identify its main cost drivers.

Methods: A micro-costing bottom-up approach was conducted for the year 2018 in a French setting as part of the DISSEQ study, a cost-effectiveness study funded by the Ministry of Health and performed in collaboration with the GAD (Génétique des Anomalies du Développement), a genetic team from the Dijon University Hospital, and a public sequencing platform, the Centre National de Recherche en Génomique Humaine (CNRGH). The analysis was conducted from the point of view of these two ES stakeholders. All of the resources (labor, equipment, disposables and reagents, reusable material) required to analyze blood samples were identified, collected and valued. Several sensitivity analyses were performed.

Results: The unit nominal cost per ES diagnostic test for ID was estimated to be €2,019.39. Labor represented 50.7% of the total cost. The analytical step (from the preparation of libraries to the analysis of sequences) represented 88% of the total cost. Sensitivity analyses suggested that a simultaneous price decrease of 20% for the capture kit and 50% for the sequencing support kit led to an estimation of €1,769 per ES diagnostic test for ID.

Conclusion: This is the first estimation of ES cost to be done in the French setting of ID diagnosis. The estimation is especially influenced by the price of equipment kits, but more generally by the organization of the centers involved in the different steps of the analysis and the time period in which the study was conducted. This information can now be used to define an adequate tariff and assess the efficiency of ES.

Trial registration: ClinicalTrials.gov identifier NCT03287206 on September 19, 2017.

Keywords: Cost analysis; Exome sequencing; Intellectual disability; Micro-costing.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
The ES process. Represents the ES process with the five steps of the analysis: the preparation of the pre-analysis, the pre-analytical, the analytical, the bioinformatics steps and the biological step
Fig. 2
Fig. 2
Components of the cost per ES diagnostic test for ID (%). Represents the distribution of the components (disposable materials and reagents, reusable materials, equipment, maintenance, labor and overheads) within the ES cost analysis
Fig. 3
Fig. 3
One-way sensitivity analyses. Represents the results of several one-way sensitivity analyses and shows how the baseline estimation of the cost per ES diagnostic test for ID (€ 2,019.39) varies according to key parameters
See this image and copyright information in PMC

References

    1. Buntinx W, Cans C, Colleaux L, Courbois Y, Debbané M, Desportes V, et al. Déficiences intellectuelles [rapport de recherche]. Institut national de la santé et de la recherche médicale, EDP Sciences. 2016. https://www.hal.inserm.fr/inserm-02102567/document. Accessed 18 April 2023.
    1. Verloes A, Héron D, de Billette Villemeur T, Afenjar A, Baumann C, Bahi-Buisson N, et al. Diagnostic investigations for an unexplained developmental disability. Arch Pediatr. 2012;19:194–207. doi: 10.1016/j.arcped.2011.11.014. - DOI - PubMed
    1. Redin C, Gérard B, Lauer J, Herenger Y, Muller J, Quartier A, et al. Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. J Med Genet. 2014;51:724–736. doi: 10.1136/jmedgenet-2014-102554. - DOI - PMC - PubMed
    1. Rabbani B, Tekin M, Mahdieh N. The promise of whole-exome sequencing in medical genetics. J Hum Genet. 2014;59:5–15. doi: 10.1038/jhg.2013.114. - DOI - PubMed
    1. Singleton AB. Exome sequencing: a transformative technology. Lancet Neurol. 2011;10:942–946. doi: 10.1016/S1474-4422(11)70196-X. - DOI - PMC - PubMed

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