Objectives

Although 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.

Methods

Actual 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.

Results

The 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.

Conclusion

This 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.

中文翻译：

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癌症分子诊断中的全外显子组测序随着时间的推移而减少：来自法国环境成本分析的证据

目标

尽管高通量测序正在彻底改变医学，但仍需要有关全外显子组测序 (WES) 应用实际成本的数据。我们旨在评估 2015 年和 2018 年在法国癌症研究所进行的 WES 成本。

方法

WES 在肿瘤学研究中的实际应用成本是使用 2015 年和 2018 年（在购买新测序仪之前和之后）的微观成本计算和总成本计算确定的。跟踪 WES 测试的整个工作流程，并在最详细的级别确定每个资源的数量和单价，从文库准备到生物信息学分析。此外，我们对 WES 分析发布的数据的生物信息学存储成本进行了临时分析。

结果

WES 的成本大幅下降，从 2015 年的每个样本 1921 欧元（即每位患者的成本 3842 欧元）降至 2018 年的每个样本的 804 欧元（即每位患者的成本 1,608 欧元），下降了 58%。与此同时，生物信息学存储的成本从 19,836 欧元增加到 200,711 欧元。

结论

这项研究表明，近年来 WES 成本已显着降低。WES 已经变得负担得起，尽管临床实用性和效率仍然需要得到证实。