Zhao Yu, Zhang Wenhui, Zhang Xin
Department of Urology Surgery, Beijing Chao-Yang Hospital Affiliated to Capital Medical University, Beijing, China.
Department of Hepatobiliary Surgery, Beijing Chao-Yang Hospital Affiliated to Capital Medical University, Beijing, China.
Front Cell Infect Microbiol. 2024 Nov 15;14:1458316. doi: 10.3389/fcimb.2024.1458316. eCollection 2024.
Metagenomic next-generation sequencing (mNGS) is a transformative approach in the diagnosis of infectious diseases, utilizing unbiased high-throughput sequencing to directly detect and characterize microbial genomes from clinical samples. This review comprehensively outlines the fundamental principles, sequencing workflow, and platforms utilized in mNGS technology. The methodological backbone involves shotgun sequencing of total nucleic acids extracted from diverse sample types, enabling simultaneous detection of bacteria, viruses, fungi, and parasites without prior knowledge of the infectious agent. Key advantages of mNGS include its capability to identify rare, novel, or unculturable pathogens, providing a more comprehensive view of microbial communities compared to traditional culture-based methods. Despite these strengths, challenges such as data analysis complexity, high cost, and the need for optimized sample preparation protocols remain significant hurdles. The application of mNGS across various systemic infections highlights its clinical utility. Case studies discussed in this review illustrate its efficacy in diagnosing respiratory tract infections, bloodstream infections, central nervous system infections, gastrointestinal infections, and others. By rapidly identifying pathogens and their genomic characteristics, mNGS facilitates timely and targeted therapeutic interventions, thereby improving patient outcomes and infection control measures. Looking ahead, the future of mNGS in infectious disease diagnostics appears promising. Advances in bioinformatics tools and sequencing technologies are anticipated to streamline data analysis, enhance sensitivity and specificity, and reduce turnaround times. Integration with clinical decision support systems promises to further optimize mNGS utilization in routine clinical practice. In conclusion, mNGS represents a paradigm shift in the field of infectious disease diagnostics, offering unparalleled insights into microbial diversity and pathogenesis. While challenges persist, ongoing technological advancements hold immense potential to consolidate mNGS as a pivotal tool in the armamentarium of modern medicine, empowering clinicians with precise, rapid, and comprehensive pathogen detection capabilities.
宏基因组下一代测序（mNGS）是传染病诊断中的一种变革性方法，它利用无偏向的高通量测序直接从临床样本中检测和鉴定微生物基因组。本综述全面概述了mNGS技术的基本原理、测序流程和所使用的平台。该方法的核心是对从各种样本类型中提取的总核酸进行鸟枪法测序，能够在无需预先了解感染病原体的情况下同时检测细菌、病毒、真菌和寄生虫。mNGS的主要优势包括其识别罕见、新型或不可培养病原体的能力，与传统的基于培养的方法相比，能提供更全面的微生物群落视图。尽管有这些优势，但诸如数据分析复杂、成本高以及需要优化样本制备方案等挑战仍然是重大障碍。mNGS在各种全身性感染中的应用凸显了其临床实用性。本综述中讨论的案例研究说明了其在诊断呼吸道感染、血流感染、中枢神经系统感染、胃肠道感染等方面的功效。通过快速识别病原体及其基因组特征，mNGS有助于及时进行有针对性的治疗干预，从而改善患者预后和感染控制措施。展望未来，mNGS在传染病诊断中的前景似乎很广阔。预计生物信息学工具和测序技术的进步将简化数据分析、提高灵敏度和特异性并缩短周转时间。与临床决策支持系统的整合有望在常规临床实践中进一步优化mNGS的应用。总之，mNGS代表了传染病诊断领域的范式转变，为微生物多样性和发病机制提供了无与伦比的见解。虽然挑战依然存在，但持续的技术进步具有巨大潜力，可巩固mNGS作为现代医学武器库中的关键工具，赋予临床医生精确、快速和全面的病原体检测能力。
