Pathway analysis of genomic pathology tests for prognostic cancer subtyping.
Pathway analysis of genomic pathology tests for prognostic cancer subtyping.
复制标题
用于预后癌症亚型的基因组病理学测试的路径分析。
DOI：
10.1016/j.jbi.2019.103286
复制
发表时间：
2019
影响因子：
4.5
通讯作者：
Weng,Chunhua
中科院分区：
文献类型：
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作者：
Lyudovyk,Olga;Shen,Yufeng;Tatonetti,NicholasP;Hsiao,SusanJ;Mansukhani,MaheshM;Weng,Chunhua
在提供医疗服务期间收集并存储在电子健康记录（EHR）系统中的基因组测试结果为疾病异质性和临床结果的临床研究提供了机会。在本文中，我们评估了癌症患者基因组检测报告的使用，以获得癌症亚型，并确定预测不良生存结局的生物学途径。提出了一种基于受影响的生物学途径而不是基因突变来计算患者相似性的新方法。我们证明，这种方法确定的预后价值和与生存相关的生物学途径的亚型，与精确的治疗选择和更好地了解潜在的疾病的影响。我们还分享了关于二次利用观察性基因组数据进行此类研究的机会和挑战的经验教训。
Genomic test results collected during the provision of medical care and stored in Electronic Health Record (EHR) systems represent an opportunity for clinical research into disease heterogeneity and clinical outcomes. In this paper, we evaluate the use of genomic test reports ordered for cancer patients in order to derive cancer subtypes and to identify biological pathways predictive of poor survival outcomes. A novel method is proposed to calculate patient similarity based on affected biological pathways rather than gene mutations. We demonstrate that this approach identifies subtypes of prognostic value and biological pathways linked to survival, with implications for precision treatment selection and a better understanding of the underlying disease. We also share lessons learned regarding the opportunities and challenges of secondary use of observational genomic data to conduct such research.