宏基因组高通量测序技术的临床应用:现状、挑战与前景

Metagenomic Next-generation Sequencing:Current Status,Challenges and Prospects of Clinical Application

传统微生物学检测方法难以满足临床复杂多变的病原体检测需求。近年来,新兴的宏基因组高通量测序(metagenomic next-generation sequencing, mNGS)技术被广泛应用于各种感染性疾病诊断、新发及突发传染病病因分析、耐药基因检测和宿主免疫应答分析等领域。mNGS检测流程十分复杂,检测过程中每一步骤引入的变异均会影响检测结果的准确性。检测方法缺乏标准化、人员认知和能力不足、仪器试剂成本高昂是mNGS临床推广面临的主要障碍,因此亟需对检测方法进行标准化、规范化,快速提升检测人员的认知和综合能力。未来,整合mNGS病原体信息、转录组信息和耐药基因信息以提高对感染性疾病患者的临床管理水平是mNGS检测的重要发展方向。

Traditional microbial detection methods have difficulty meeting the needs of pathogen detection in the clinic.In recent years,metagenomic next-generation sequencing(mNGS)technology has emerged and been widely used in the diagnosis of various infectious diseases,the etiological analysis of emerging infectious diseases,the detection of drug resistance genes and the analysis of the host immune response.However,the mNGS workflow is complicated,and the variation introduced in each step will influence the accuracy of the detection results.In addition,the absence of standardized methods,the lack of personnel knowledge and ability,and the high cost of instruments and reagents are also creating main obstacles to the clinical application of mNGS.Therefore,standardization and normalization of methods as well as improvement of personnel knowledge and ability are urgently needed for mNGS detection.The integration of pathogen,transcriptome and antibiotic resistance genes information to comprehensively improve the clinical management of patients with infectious diseases is an important direction of mNGS detection.