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晚期非小细胞肺癌患者全外显子组测序和全转录组测序的成本与效益

Costs and Benefits of Whole-Exome, Whole-Transcriptome Sequencing in Patients With Advanced Non-Small Cell Lung Cancer.

作者信息

Ortendahl Jesse D, Cuyun Carter Gebra, Thakkar Snehal G, Bognar Katalin, Hall David W, Abdou Yara, Gandara David

机构信息

Stratevi LLC, Boston, MA.

Exact Sciences Corporation, Madison, WI.

出版信息

JCO Precis Oncol. 2025 Jun;9:e2400640. doi: 10.1200/PO-24-00640. Epub 2025 Jun 17.

Abstract

PURPOSE

With an increase in approved targeted therapies for non-small cell lung cancer (NSCLC), tumor profiling that maximizes identification of patients eligible for these treatments is essential. In this study, we compare testing approaches for newly diagnosed advanced or metastatic NSCLC.

METHODS

An economic model was developed to estimate the annual costs and clinical outcomes associated with testing alternatives. Patients were assigned alterations on the basis of rates observed in published literature. Treatment approaches included no genomic testing; sequential single-gene testing; or a whole-exome, whole-transcriptome (WES/WTS) comprehensive genomic profiling to inform use of targeted therapies. The budget impact and survival implications of WES/WTS were compared head to head with the other testing approaches, and uncertainty was assessed in sensitivity analyses. In scenario analyses, tests that incorporate both DNA and RNA were compared with tests using DNA sequencing alone when assuming the prevalence of fusions that can only be identified by RNA ranged from 2.5% to 14%.

RESULTS

Compared with no testing, WES/WTS reduced costs by $8,809 in US dollars (USD) per patient tested while increasing median overall survival by an average of 3.9 months. When compared with sequential single-gene testing, use of WES/WTS decreased costs by $14,602 (USD) per patient and had a minimal survival benefit. A test that included both RNA and DNA sequencing reduced costs by $400-$1,724 (USD) and increased identification of actionable alterations by 2.3%-13.0% across the range of fusion prevalence.

CONCLUSION

Use of WES/WTS improved clinical outcomes while reducing costs. These findings should be considered when choosing between tumor profiling approaches.

摘要

目的

随着非小细胞肺癌(NSCLC)获批的靶向治疗药物增多,最大限度地识别适合这些治疗的患者的肿瘤分析至关重要。在本研究中,我们比较了新诊断的晚期或转移性NSCLC的检测方法。

方法

开发了一种经济模型,以估计与检测替代方案相关的年度成本和临床结果。根据已发表文献中观察到的发生率为患者分配改变情况。治疗方法包括不进行基因组检测;序贯单基因检测;或全外显子组、全转录组(WES/WTS)综合基因组分析,以指导靶向治疗的使用。将WES/WTS的预算影响和生存意义与其他检测方法进行了直接比较,并在敏感性分析中评估了不确定性。在情景分析中,当假设仅能通过RNA识别的融合发生率在2.5%至14%之间时,将同时包含DNA和RNA的检测与仅使用DNA测序的检测进行了比较。

结果

与不进行检测相比,WES/WTS使每位检测患者的成本降低了8809美元(USD),同时将中位总生存期平均延长了3.9个月。与序贯单基因检测相比,使用WES/WTS使每位患者的成本降低了14602美元(USD),且生存获益极小。一种同时包含RNA和DNA测序的检测使成本降低了400 - 1724美元(USD),并在融合发生率范围内将可操作改变的识别率提高了2.3% - 13.0%。

结论

使用WES/WTS改善了临床结果,同时降低了成本。在选择肿瘤分析方法时应考虑这些发现。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/efa1/12184969/3f9be548a7a1/po-9-e2400640-g001.jpg

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