Abstract：
UNASSIGNED: 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).
UNASSIGNED: The resource use and cost details associated with SoC, e.g. chromosome banding analysis, fluorescent in situ hybridization, and targeted sequencing analysis, were collected via 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: The resource use and cost details associated with SoC, e.g. chromosome banding analysis, fluorescent in situ hybridization, and targeted sequencing analysis, were collected via 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
摘要：
■全基因组测序（WGS）越来越多地应用于临床实践，并有望取代血液恶性肿瘤的标准护理（SoC）诊断。本研究旨在评估和比较瑞典实验室使用WGS和SoC的每位患者的完全负担成本（“微成本”），分别,急性淋巴细胞白血病（ALL）和急性髓细胞性白血病（AML）的儿童和成人患者。
■与SoC相关的资源使用和成本详细信息，例如染色体带分析，荧光原位杂交,和靶向测序分析，是通过基于活动的成本计算方法从四个诊断实验室收集的。对于WGS，从两个中心收集了相应的数据.开发了基于仿真的情景模型，用于分析基于不同年样本吞吐量的WGS成本，以评估规模经济。
■小儿AML的平均SoC总成本为2,465欧元，小儿ALL的平均SoC总成本为2,201欧元。而在成年人中，AML的相应费用为2,458欧元，所有费用为1,207欧元。平均WGS成本（90x肿瘤/30x正常；在IlluminaNovaSeq6000平台上测序）估计为3,472欧元，基于每年2,500次分析，然而,每年有7500份分析，平均成本将下降23%，达到2671欧元。
■总之，WGS目前比SoC更昂贵，然而，可以通过利用具有更高吞吐量的实验室和试剂成本的预期下降来降低成本。我们的数据为决策者提供了在血液系统恶性肿瘤诊断中实施WGS所需的资源分配指导。
■与SoC相关的资源使用和成本详细信息，例如染色体带分析，荧光原位杂交,和靶向测序分析，是通过基于活动的成本计算方法从四个诊断实验室收集的。对于WGS，从两个中心收集了相应的数据.开发了基于仿真的情景模型，用于分析基于不同年样本吞吐量的WGS成本，以评估规模经济。
■小儿AML的平均SoC总成本为2,465欧元，小儿ALL的平均SoC总成本为2,201欧元。而在成年人中，AML的相应费用为2,458欧元，所有费用为1,207欧元。平均WGS成本（90x肿瘤/30x正常；在IlluminaNovaSeq6000平台上测序）估计为3,472欧元，基于每年2,500次分析，然而,每年有7500份分析，平均成本将下降23%，达到2671欧元。
■总之，WGS目前比SoC更昂贵，然而，可以通过利用具有更高吞吐量的实验室和试剂成本的预期下降来降低成本。我们的数据为决策者提供了在血液系统恶性肿瘤诊断中实施WGS所需的资源分配指导。
