血浆游离DNA宏基因组二代测序在感染性疾病诊断中的研究进展

Research progress in metagenomic next-generation sequencing of plasma cell-free DNA for the diagnosis of infectious diseases

感染性疾病是临床常见疾病,发病率和病死率高,快速明确致病病原微生物,以指导合理的治疗方案仍是临床急需解决的重要课题。随着宏基因组二代测序(mNGS)技术在感染性疾病病原微生物检测方面的广泛应用,血浆游离DNA(cfDNA)mNGS作为一种无创性检测手段在病原微生物检测方面显示出巨大的潜力,成为诊断感染性疾病和指导治疗的新兴手段,但目前仍在研究的早期阶段。本文介绍了血浆cfDNA的生物学特点、血浆cfDNA mNGS在感染性疾病诊断中的研究进展及其在感染性疾病诊断中的应用和挑战。

Infectious diseases are common clinical diseases with high morbidity and mortality,and rapid identification of pathogenic microorganisms to guide rational therapeutic regimens remains an important clinical issue that needs to be addressed urgently.With the wide application of metagenomic next-generation sequencing(mNGS)technology in the detection of pathogenic microorganisms in infectious diseases,plasma cell-free DNA(cfDNA)mNGS,as a non-invasive method,has shown great potential in detecting pathogenic microorganisms.However,it′s still in the early research stage.This article reviews the biological characteristics of plasma cfDNA and the advances of plasma cfDNA mNGS diagnosing infectious diseases.Meanwhile,the application and challenges of this technology in diagnozing infectious diseases are also described.