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宏基因组高通量测序技术的临床应用：现状、挑战与前景

刁振丽,  李金明

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文章导航 > 协和医学杂志  > 2023 > 优先出版
刁振丽, 李金明. 宏基因组高通量测序技术的临床应用：现状、挑战与前景[J]. 协和医学杂志. doi: 10.12290/xhyxzz.2023-0089
引用本文: 刁振丽, 李金明. 宏基因组高通量测序技术的临床应用：现状、挑战与前景[J]. 协和医学杂志. doi: 10.12290/xhyxzz.2023-0089
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DIAO Zhenli, LI Jinming. Current Status, Challenges and Prospects of Clinical Application for Metagenomic Next Generation Sequencing[J]. Medical Journal of Peking Union Medical College Hospital. doi: 10.12290/xhyxzz.2023-0089
Citation: DIAO Zhenli, LI Jinming. Current Status, Challenges and Prospects of Clinical Application for Metagenomic Next Generation Sequencing[J]. Medical Journal of Peking Union Medical College Hospital. doi: 10.12290/xhyxzz.2023-0089
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宏基因组高通量测序技术的临床应用：现状、挑战与前景

doi: 10.12290/xhyxzz.2023-0089

  • 1 北京医院/国家老年医学中心 国家卫生健康委临床检验中心中国医学科学院老年医学研究院, 北京 100730;

  • 2 国家卫生健康委临床检验中心/北京协和医学院/中国医学科学院, 北京 100730

详细信息
    通讯作者:

    李金明,E-mail:jmli@nccl.org.cn

  • 中图分类号: R446.5;R51

Current Status, Challenges and Prospects of Clinical Application for Metagenomic Next Generation Sequencing

  • 1 National Center for Clinical Laboratories, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing Hospital/National Center of Gerontology, Beijing 100730, China;

  • 2 National Center for Clinical Laboratories, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China

    摘要
  • 摘要: 传统的微生物学检测方法难以满足临床上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。检测方法的标准化、规范化，人员知识和能力的提升是目前 mNGS 检测面临的迫切需求。整合 mNGS 病原体信息、转录组信息和耐药基因信息以综合提高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。
    Abstract: 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. The mNGS workflow is complicated, and the variation introduced in each step will influence the accuracy of the detection results. The absence of standardized methods, the lack of personnel knowledge and ability, and the expensive cost of instruments and reagents are the main obstacles to the clinical application of mNGS. The standardization and normalization of methods as well as the improvement of personnel knowledge and ability are currently urgently needed for mNGS detection. The integration of pathogen, transcriptome and antibiotic resistance genes information to comprehensively improve the clinical management level of patients with infectious diseases is an important direction of mNGS detection.
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出版历程
  • 收稿日期:  2023-02-17
  • 录用日期:  2023-03-20
  • 网络出版日期:  2023-03-30

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