摘要感染性疾病是世界范围内一类主要致死性疾病,基于目前临床检验实验室传统检测手段,其中大部分病原体仍是诊断不明的.宏基因组测序具备无偏移、全覆盖、高效率等优势,正被应用于临床病原学诊断.研究表明,宏基因组测序在呼吸道感染、中枢神经系统感染及血流感染等有着良好的病原学诊断能力,虽然不能完全取代临床检验实验室传统检测手段在现有临床病原学诊断中的地位,但可考虑作为一种确实有效的补充.本文回顾了近年来宏基因组测序在各类感染病原诊断中的临床应用进展,探讨其当前应用中面临的制约瓶颈,旨在更好引导其临床应用.

abstractsInfectious disease is still one of the leading causes of death nowadays .More than half of pathogens causing infections are still unclear through conventional microbiological diagnostics in clinical laboratory.Recently, the metagenomic sequencing is being applied in the pathogenic diagnosis with full coverage, high efficiency and few bias.Though metagenomic sequencing has shown good performance in pathogenic diagnosis for respiratory tract infection , central nervous system infection and bloodstream infection, it still cannot replace the conventional microbiological tests ; however, this state-of-the-art tool should be considered as an effective supplement to pathogen diagnosis .This article reviews the current application of metagenomic sequencing in clinical scenarios and related pitfalls , with the aim of promoting better utilization of the tool.