Department of Health, Medicine and Caring Sciences, Linköping University, Linköping, Sweden.
Department of Register and Statistics, The National Board of Health and Welfare, Stockholm, Sweden.
J Med Econ. 2024 Jan-Dec;27(1):1053-1060. doi: 10.1080/13696998.2024.2387515. Epub 2024 Aug 8.
Whole-genome sequencing (WGS) is increasingly applied in clinical practice and expected to replace standard-of-care (SoC) genetic diagnostics in hematological malignancies. This study aims to assess and compare the fully burdened cost ('micro-costing') per patient for Swedish laboratories using WGS and SoC, respectively, in pediatric and adult patients with acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML).
The resource use and cost details associated with SoC, chromosome banding analysis, fluorescent hybridization, and targeted sequencing analysis, were collected activity-based costing methods from four diagnostic laboratories. For WGS, corresponding data was collected from two of the centers. A simulation-based scenario model was developed for analyzing the WGS cost based on different annual sample throughput to evaluate economy of scale.
The average SoC total cost per patient was €2,465 for pediatric AML and €2,201 for pediatric ALL, while in adults, the corresponding cost was €2,458 for AML and €1,207 for ALL. The average WGS cost (90x tumor/30x normal; sequenced on the Illumina NovaSeq 6000 platform) was estimated to €3,472 based on an annual throughput of 2,500 analyses, however, with an annual volume of 7,500 analyses the average cost would decrease by 23% to €2,671.
In summary, WGS is currently more costly than SoC, however the cost can be reduced by utilizing laboratories with higher throughput and by the expected decline in cost of reagents. Our data provides guidance to decision-makers for the resource allocation needed when implementing WGS in diagnostics of hematological malignancies.
全基因组测序（WGS）在临床实践中的应用越来越广泛，预计将取代血液恶性肿瘤的标准护理（SoC）遗传诊断。本研究旨在评估和比较瑞典实验室分别使用 WGS 和 SoC 时，儿科和成人急性淋巴细胞白血病（ALL）和急性髓细胞白血病（AML）患者的每位患者的全负担成本（“微成本”）。
采用基于活动的成本核算方法从四个诊断实验室收集了与 SoC、染色体带分析、荧光杂交和靶向测序分析相关的资源利用和成本细节。对于 WGS，从两个中心收集了相应的数据。开发了基于模拟的情景模型，用于分析 WGS 成本，根据不同的年度样本通量来评估规模经济。
儿科 AML 患者的 SoC 总成本平均为 2465 欧元，儿科 ALL 患者的总成本为 2201 欧元，而成年人的 AML 患者为 2458 欧元，ALL 患者为 1207 欧元。基于 2500 次分析的年度通量，平均 WGS 成本（90x 肿瘤/30x 正常；在 Illumina NovaSeq 6000 平台上测序）估计为 3472 欧元，但是，每年 7500 次分析的平均成本将降低 23%至 2671 欧元。
总之，WGS 目前比 SoC 更昂贵，但通过利用通量更高的实验室和试剂成本的预期下降，可以降低成本。我们的数据为决策者提供了在血液恶性肿瘤诊断中实施 WGS 所需资源分配的指导。
