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    2020~2021年宏基因组测序技术在病原微生物检测中的应用

    摘要

    病原微生物检测能够对感染性疾病的病原体或者代谢物进行检测分析,是体外诊断试剂(InVitroDiagnosis,IVD)的细分领域之一。目前病原微生物诊断技术不断发展,传统病原微生物培养技术主要有分离培养、涂片镜检、生化鉴定、抗原抗体免疫等,存在阳性率低、诊断周期长,无法达到检测病原体的要求等问题。分子生物学检测方法快速发展,并有诸多方法可将少量的核酸分子扩增到易于检测的水平。这些检测方法包括恒温扩增技术(LAMP)、实时荧光定量PCR等。二代测序等新技术的出现,给临床病原微生物的诊断提供了新的解决方案,特别是针对普通实验室难以培养、生长缓慢病原体及未知病原体、罕见病原体检测等具有明显优势。但二代测序技术目前仍然面临若干挑战,如检测成本偏高、对实验环境要求严苛、部分检测结果需人工解读等。分子诊断的新方法和新技术正在改变实践临床微生物学的方式,这影响了病原微生物相关检测行业。

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    Abstract

    Pathogen detection can detect and analyze pathogens or metabolites of infectious diseases,and is one of the subdivisions of in vitro diagnostic reagents(In Vitro Diagnosis,IVD). At present,the diagnosis technology of pathogenic microorganisms continues to develop. The traditional cultivation techniques of pathogenic microorganisms mainly include isolation culture,smear microscopy,biochemical identification,antigen-antibody immunization,etc.,facing the low positive rate and long diagnosis cycle,unable to meet the requirements of detecting pathogens. Molecular biology detection methods are developing rapidly,and there are many methods that can amplify a small amount of nucleic acid molecules to a level that is easy to detect. These detection methods include constant temperature amplification technology(LAMP),real-time fluorescent quantitative PCR and so on. With the emergence of new technologies,such as second-generation sequencing,new solutions are provided for the diagnosis of clinical pathogenic microorganisms,especially those that are difficult to culture in ordinary laboratories,slow growth,unknown pathogens,rare pathogens,etc.,have obvious advantages. However,the second-generation sequencing method still faces several challenges,such as high testing costs,strict requirements on the experimental environment,and manual interpretation of some test results. New methods and technologies of molecular diagnostics are changing the way we practice clinical microbiology,which has affected the pathogenic microorganism-related detection industry.

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    作者简介
    王佳伟:王佳伟,首都医科大学附属北京同仁医院神经内科主任兼医院中心实验室主任,美国约翰霍普金斯大学博士后,教授,主任医师,博士生导师。
    夏涵:夏涵,予果生物科技(北京)有限公司法定代表人、总经理。
    马自立:马自立,予果生物科技(北京)有限公司副总经理。
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