Abstract：
Whole genome and whole transcriptome sequencing (WGTS) can accurately distinguish B-cell acute lymphoblastic leukemia (B-ALL) genomic subtypes. However, whether this is economically viable remains unclear. This study compared the direct costs and molecular subtype classification yield using different testing strategies for WGTS in adolescent and young adult/adult patients with B-ALL. These approaches were: (1) combined BCR::ABL1 by fluorescence in situ hybridization (FISH) + WGTS for all patients; and (2) sequential BCR::ABL1 FISH + WGTS contingent on initial BCR::ABL1 FISH test outcome. The cost of routine diagnostic testing was estimated using Medicare or hospital fees, and the additional cost of WGTS was evaluated from the health care provider perspective using time-driven activity-based costing with resource identification elicited from experts. Molecular subtype classification yield data were derived from literature sources. Parameter uncertainty was assessed through deterministic sensitivity analysis; additional scenario analyses were performed. The total per patient cost of WGTS was $4319 (all costs reported in US dollars); consumables accounted for 74% of the overall cost, primarily driven by sequencing-related consumables. The incremental cost per additional patient categorized into molecular subtype was $8498 for combined BCR::ABL1 FISH + WGTS for all patients and $5656 for initial BCR::ABL1 FISH + WGTS for select patients compared with routine diagnostic testing. A reduction in the consumable costs of WGTS or an increase in the yield of molecular subtype classification is favorable.
摘要：
全基因组和全转录组测序(WGTS)可准确区分B细胞急性淋巴细胞白血病(B-ALL)基因组亚型。然而,这在经济上是否可行尚不清楚。这项研究比较了青少年和年轻成人/成人B-ALL患者使用不同的WGTS测试策略的直接成本和分子亚型分类产量。这些方法是：（1）所有患者通过荧光原位杂交（FISH）WGTS组合BCR：：ABL1；（2）顺序BCR：：ABL1FISHWGTS取决于初始BCR：：ABL1FISH测试结果。常规诊断测试的费用是使用医疗保险或住院费用估算的，WGTS的额外成本从医疗保健提供者的角度进行评估，使用时间驱动的基于活动的成本核算和专家得出的资源识别。分子亚型分类产量数据来自文献来源。通过确定性敏感性分析评估参数不确定性；进行了其他情景分析。WGTS每位患者的总费用为4319美元（所有费用均以美元报告）；消耗品占总费用的74％，主要由测序相关耗材驱动。与常规诊断测试相比，所有患者合并BCR::ABL1FISH+WGTS的每个额外患者的增量成本为8498美元，选定患者的初始BCR::ABL1FISH+WGTS的增量成本为5656美元。WGTS的可消耗成本的降低或分子亚型分类的产率的增加是有利的。
