宏基因组测序在感染性疾病中的应用与反思

Application of metagenomic next generation sequencing in infectious diseases

几乎所有的病原体均有DNA或RNA基因组,测序技术理论上可有效检测出所有病原体基因组,从而为感染性疾病的病原学诊断提供帮助。下一代测序(Next generation sequencing,NGS)或高通量测序,自2005年问世以来,随着技术的成熟和运用,其低成本、高效率、高准确性的特点使之成为临床鉴定病原体微生物的有利技术平台。宏基因组二代测序(Metagenomicnext generation sequencing,mNGS)作为一项新的测序技术,在感染性疾病中,特别是常规诊断方法存在局限性的领域,如新发传染病、少见疾病等,对提高诊断效率和准确性有巨大的潜力。本文介绍了高通量测序常见平台及测序原理,综述了mNGS检测在不同病原微生物导致的感染性疾病中的临床应用及其优势,反思其局限性,并寻求可能的解决方案。

Almost all pathogens have DNA or RNA genomes.Theoretically,genomes of pathogens can be effectively detected by sequencing technology,it would be of value for etiological diagnosis of infectious diseases.The next generation sequencing(NGS)emerged in 2005,the advantages of low cost,high efficiency and high accuracy make it a favorable technical platform for clinical identification of microorganisms.As a new sequencing technique,metagenomic next generation sequencing(mNGS)has great potential in improving the accuracy and efficiency of pathogenic diagnosis,especially in the areas where conventional diagnostic methods have limitations.This article introduces the common platforms and principle of the high throughput sequencing,reviews the clinical applications and the advantages of mNGS in identification of different pathogenic microorganisms,and reflects on its limitations and seeks possible solutions.