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可操作突变和拷贝数改变的患病率以及基因组检测面板的价格。

Prevalence of actionable mutations and copy number alterations and the price of a genomic testing panel.

作者信息

Shen Chan, Meric-Bernstam Funda, Su Xiaoping, Mendelsohn John, Giordano Sharon

机构信息

Department of Health Services Research, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.

Department of Biostatistics, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.

出版信息

Oncotarget. 2016 Nov 1;7(44):71686-71695. doi: 10.18632/oncotarget.11994.

Abstract

Interest in genomic testing for the selection of cancer therapy is growing. However, the cost of genomic testing has not been well studied. We sought to determine the price of identifying mutations and copy number alterations (CNAs) in theoretically actionable genes across multiple tumor types. We reviewed data from The Cancer Genome Atlas to determine the frequency of alterations in nine tumor types. We used price information from a commonly used commercial genomic testing platform (FoundationOne) to determine the price of detecting mutations and CNAs in different types of tumors. Although there are large variations in the prevalence by tumor type, when the detection of both mutations and CNAs was considered overall, most patients had at least one alteration in a potentially actionable gene (84% overall, range 51%- 98% among tumor types assessed). The corresponding average price of identifying at least one alteration per patient ranges from $5,897 to $11,572. Although the frequency of mutations and CNAs in actionable genes differs by tumor type, most patients have an actionable genomic alteration detectable by a commercially available panel. Determining CNAs as well as mutations improves actionability and reduces the price of detecting an alteration.

摘要

通过基因组检测来选择癌症治疗方案的关注度日益增加。然而,基因组检测的成本尚未得到充分研究。我们试图确定在多种肿瘤类型中,鉴定理论上可用于指导治疗的基因中的突变和拷贝数改变(CNA)的价格。我们回顾了癌症基因组图谱(The Cancer Genome Atlas)的数据,以确定九种肿瘤类型中改变的频率。我们使用了常用商业基因组检测平台(FoundationOne)的价格信息,来确定检测不同类型肿瘤中突变和CNA的价格。尽管不同肿瘤类型的患病率差异很大,但如果将突变和CNA的检测作为一个整体来看,大多数患者在潜在可用于指导治疗的基因中至少有一处改变(总体为84%,在所评估的肿瘤类型中范围为51%-98%)。每位患者鉴定出至少一处改变的相应平均价格在5897美元至11572美元之间。尽管可用于指导治疗的基因中的突变和CNA频率因肿瘤类型而异,但大多数患者都有可通过市售检测板检测到的可用于指导治疗的基因组改变。同时确定CNA和突变可提高可操作性,并降低检测改变的价格。

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