Academic Journal
Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting
| العنوان: | Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting |
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| المؤلفون: | Soilly, Al, Robert-Viard, C, Besse, C, Bruel, Al, Gerard, B, Boland, A, Piton, A, Duffourd, Y, Muller, J, Poë, C, Jouan, T, El Doueiri, S, Faivre, L, Bacq-Daian, D, Isidor, B, Genevieve, D, Odent, S, Philip, N, Doco-Fenzy, M, Lacombe, D, Asensio, Ml, Deleuze, Jf, Binquet, C, Thauvin-Robinet, C, Lejeune, C |
| المساهمون: | CHU Dijon, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Centre d'Investigation Clinique 1432 (Dijon) - Epidemiologie Clinique/Essais Cliniques (CIC-EC), Université de Bourgogne (UB)-Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François JACOB (JACOB), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Equipe GAD (LNC - U1231), Lipides - Nutrition - Cancer Dijon - U1231 (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Agro Dijon, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Agro Dijon, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro), Les Hôpitaux Universitaires de Strasbourg (HUS), Institut de génétique médicale d’Alsace (IGMA), Université de Strasbourg (UNISTRA)-Les Hôpitaux Universitaires de Strasbourg (HUS), Laboratoire de Génétique Médicale (LGM), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM), FHU TRANSLAD (CHU de Dijon), Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), Service de génétique médicale Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Hôpital Arnaud de Villeneuve CHRU Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou, Département de génétique médicale Hôpital de la Timone - APHM, Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital de la Timone CHU - APHM (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital universitaire Robert Debré Reims (CHU Reims), CHU Bordeaux, Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) (U1211 INSERM/MRGM), Université de Bordeaux (UB)-Groupe hospitalier Pellegrin-Institut National de la Santé et de la Recherche Médicale (INSERM), This study was funded by the French Ministry of Health as part of the 2015 Medico-Economic Research Program., DISSEQ Investigators Group: S Arpin, P Blanchet, S Blesson, O Boute-Benejean, T Busa, E Colin, C Coubes, F Devillard, P Edery, S El Chehadeh, M Fradin, A Goldenberg, A-M Guerrot, Y Herenger, N Houcinat, N Jean-Marcais, P S Jouk, L Lambert, A Lavillaureix, M Legendre, B Leheup, S Manouvrier, S Mercier, S Moutton, M Nizon, L Pasquier, F Petit, L Pinson, C Poirsier, L Pons, A Putoux, C Quelin, M Renaud, M Rossi, A Sorlin, M Spodenkiewicz, J Thevenon, A Toutain, J Van-Gils, C Vanlerberghe, A Verloes, M Vincent, C Vincent-Delorme, M Willems, A Ziegler |
| المصدر: | ISSN: 1472-6963 ; BMC Health Services Research ; https://univ-rennes.hal.science/hal-04164227 ; BMC Health Services Research, 2023, 23 (1), pp.386. ⟨10.1186/s12913-023-09373-z⟩. |
| بيانات النشر: | HAL CCSD BioMed Central |
| سنة النشر: | 2023 |
| المجموعة: | Université de Rennes 1: Publications scientifiques (HAL) |
| مصطلحات موضوعية: | Cost analysis, Exome sequencing, Intellectual disability, Micro-costing, MESH: Humans, MESH: Intellectual Disability, MESH: Exome, MESH: France, [SDV.GEN]Life Sciences [q-bio]/Genetics |
| الوصف: | International audience ; 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 ... |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| Relation: | info:eu-repo/semantics/altIdentifier/pmid/37085862; hal-04164227; https://univ-rennes.hal.science/hal-04164227; https://univ-rennes.hal.science/hal-04164227/document; https://univ-rennes.hal.science/hal-04164227/file/12913_2023_Article_9373.pdf; PUBMED: 37085862; PUBMEDCENTRAL: PMC10120135 |
| DOI: | 10.1186/s12913-023-09373-z |
| الاتاحة: | https://univ-rennes.hal.science/hal-04164227 https://univ-rennes.hal.science/hal-04164227/document https://univ-rennes.hal.science/hal-04164227/file/12913_2023_Article_9373.pdf https://doi.org/10.1186/s12913-023-09373-z |
| Rights: | http://creativecommons.org/licenses/by/ ; info:eu-repo/semantics/OpenAccess |
| رقم الانضمام: | edsbas.FB291CC3 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1186/s12913-023-09373-z |
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