临床宏基因组学应用现状及存在问题分析

Analysis of application and existing problems of clinical metagenomics

众所周知,宏基因组学是一种通过提取样品中微生物的总DNA,构建宏基因组文库,研究环境中全部微生物的遗传组成及其菌落功能的方法。而宏基因组新一代测序(metagenome next-generation sequencing, mNGS)是在宏基因组学基础上进一步发展起来的新一代测序技术,无需对患者标本进行培养,直接分析标本中的微生物DNA或RNA。本文介绍了宏基因组学在临床上的应用,包括传染病的诊断、疾病和健康状态下的微生物组分析、人类宿主反应分析和肿瘤相关病毒及其基因组鉴定,并简要探讨了临床宏基因组学研究中所遇到的挑战及解决方法。

As we all know, metagenomics is a method of extracting the total DNA of microorganisms in samples and constructing a metagenomic library to explore the genetic composition and the colony function of all microorganisms in the environment. Metagenome next-generation sequencing(mNGS) is a next-generation sequencing technology based on metagenomics, which analyzes the microbial DNA or RNA in the specimens directly without cultivating specimens of patients. This review describes the clinical applications of metagenomics, including the diagnosis of infectious diseases, microbiome analysis under ill and healthy conditions, human host response analysis and identification of tumor-associated viruses and relevant genomes, along with discussing the challenges and solutions in clinical metagenomics research briefly.