高通量测序技术在肿瘤精准诊疗中的临床应用

Application of high-throughput sequencing in precision medicine of tumor

高通量测序技术与传统的基因检测技术相比,实现了多样本、多位点、多变异类型的大规模平行检测,在提供临床诊疗信息的同时还能挖掘大量具有研究价值的信息,其在临床的应用范围日益广泛。另一方面,基于基础研究的不断深入,医药产业的转化产出也逐渐加大,靶向治疗、免疫治疗等新型方式将肿瘤带入"个体化精准诊疗"时代,从病种管理逐渐发展到基因管理,以患者基因组大数据为核心,实现疾病的分类、诊断、治疗与预后方案的制定,因此基因检测在整个肿瘤的管理过程中占据了不可替代的重要作用。目前,高通量测序在肿瘤临床应用中涉及了靶向治疗、辅助诊断、评估预后、复发或耐药监测等诸多方面,本文对以上各方面的临床实践现状和进展进行详细介绍。

The high-throughput sequencing(NGS)method has been widely used in clinical diagnosis and treatment due to its ability to simultaneously analyze multiple samples,genes and variation types with a single test when compared to some traditional methods.In addition to providing important information for clinical diagnosis and treatment,a large amount of information with clinical research value can be digged.On the other hand,further basic research and targeted therapy promoted a new way of treating cancer patients,which is currently named as precision medicine(PM).In cancer care,this means custom treatments to each patient′s features and each cancer genomic alterations.With this conception,the use of NGS and the consequent availability of large-scale human genome databases have created an opportunity for significant onward movement of cancer diagnosis and therapy.We here discuss the applications of NGS in cancer care,under a"personalized tailored therapy"perspective.