宏基因组学测序技术在中重症感染中的临床应用专家共识(第一版)

Expert consensus for the application of metagenomic next generation sequencing in the pathogen diagnosis in clinical moderate and severe infections(first edition)

基于宏基因组学测序(mNGS)的病原学诊断技术是一种非靶向的广谱病原学筛查技术,近几年越来越多的研究表明其在重症感染领域,特别是疑难、罕见病导致的重症感染中发挥了关键性作用。由于mNGS高昂的成本及较高的实验条件要求,目前尚未纳入常规临床检验中。可以预见,随着测序成本的下降及我国医疗水平的不断提高,基于mNGS的病原学诊断技术在临床大规模开展的条件已经逐步成熟。本文从检测、规则和应用等方面阐述了基于mNGS技术在临床中重症感染患者病原学诊断中应用的专家共识,并对其未来在临床应用改进方面提出了展望。

Objective:Metagenomic next generation sequencing(mNGS)is a non-targeted and broad-spectrum pathogen screening technology.In recent years,more and more studies have shown that mNGS pathogen detection plays a key role in the field of clinical severe infection,especially when the severe infection was caused by rare pathogens.However,due to its high cost and high requirements of experimental conditions,it has not been included as a routine clinical test yet.Nevertheless,it can be predicted that with the decrease of sequencing cost and the continuous improvement of medical level in China,the conditions for large-scale clinical application of pathogenic diagnosis based on mNGS have gradually matured.This consensus described the expert consensus of etiology diagnosis based on mNGS in the scope of detection,rules and applications in clinical moderate and severe infections,and also looked forward to the improvement of its clinical application in the future.