Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting
AL Soilly, C. Robert-Viard, Céline Besse, AL. Bruel, Bénédicte Gérard, Anne Boland, Amélie Piton, Yannis Duffourd, Jean Muller, Charlotte Pöe, Thibaud Jouan, S El Doueiri, Laurence Faivre, Delphine Bacq‐Daian, Bertrand Isidor, David Geneviève, Sylvie Odent, N. Philip, M. Doco‐Fenzy, Didier Lacombe, M.L. Martínez-Berganza Asensio, J.-F. Deleuze, Christine Binquet, DISSEQ Investigators Group, S Arpin, P Blanchet, S. Blesson, Odile Boute‐Bénéjean, Tiffany Busa, Estelle Colin, Christine Coubes, Françoise Devillard, Patrick Edery, Salima El Chehadeh, Mélanie Fradin, Alice Goldenberg, A-M Guerrot, Yvan Herenger, Nada Houcinat, Nolwenn Jean‐Marçais, P. S. Jouk, Laëtitia Lambert, Alinoë Lavillaureix, M Legendre, Bruno Leheup, S Manouvrier, Samuel Mercier, Sébastien Moutton, Mathilde Nizon, Laurent Pasquier, François Petit, L Pinson, C Poirsier, L Pons, Audrey Putoux, Chloé Quēlin, M. Renaud, Massimiliano Rossi, Arthur Sorlin, M Spodenkiewicz, Julien Thévenon, Annick Toutain, Julien Van‐Gils, Clémence Vanlerberghe, Alain Verloès, Marie Vincent, C. Vincent‐Delorme, Marjolaine Willems, Alban Ziegler, Christel Thauvin‐Robinet, Catherine Lejeune
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.