智力障碍患者外显子组分析的成本：法国环境中的微观成本研究。

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

机构信息

CHU Dijon Bourgogne, Délégation à la Recherche Clinique et à l'Innovation, USMR, F-21000, Dijon, France.

CHU Dijon Bourgogne, Délégation à la Recherche Clinique et à l'Innovation, Unité Innovation, F-21000, Dijon, France.

出版信息

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

DOI:10.1186/s12913-023-09373-z

PMID:37085862

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10120135/

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.

摘要

背景

随着法国下一代测序技术的发展，外显子组测序（ES）最近成为提高智力障碍（ID）患者诊断率的机会。为了帮助法国政策制定者确定 ES 的适当费率，我们旨在评估从准备分析前步骤到报告编写步骤的每个 ES 诊断测试的单位成本，并确定其主要成本驱动因素。

方法

作为由卫生部资助的成本效益研究 DISSEQ 的一部分，2018 年在法国进行了微观成本自上而下的方法，该研究与 GAD（发育异常遗传学）合作进行，GAD 是来自第戎大学医院的遗传团队，以及一个公共测序平台，即法国国家人类基因组研究中心（CNRGH）。该分析是从这两个 ES 利益相关者的角度进行的。分析中识别、收集并评估了分析血液样本所需的所有资源（劳动力、设备、耗材和试剂、可重复使用材料）。进行了几次敏感性分析。