宏基因组二代测序技术在中枢神经系统感染诊断中的应用

Application of metagenomic next-generation sequencing technology in diagnosing central nervous system infections

摘要:

中枢神经系统感染是一类严重神经系统疾病，及时诊断、治疗十分必要。宏基因组二代测序技术通过高通量测序和生信分析，无偏倚地检测脑脊液中的多种病原体，大大提高了病原体的检出率，特别适合于用传统方法难以检测的病原体。国内外研究均表明宏基因组二代测序在提高诊断效率和精准治疗方面具有良好的效果，但也面临着技术局限性、结果解读、成本高及标准化等挑战。该文概述了宏基因组二代测序在中枢神经系统感染诊断中的应用、优势、挑战及展望。随着测序成本的降低及生物信息学工具的完善，宏基因组二代测序未来有可能成为临床常规检测的重要补充。

Abstract:

Central nervous system infections represent a category of severe neurological diseases, for which timely diagnosis and treatment are essential. Metagenomic next-generation sequencing (mNGS) technology enables unbiased detection of multiple pathogens in cerebrospinal fluid through high-throughput sequencing and bioinformatics analysis, significantly improving the pathogen detection rate. It is particularly suitable for pathogens that are difficult to detect using conventional methods. Studies both domestically and internationally have demonstrated the effectiveness of mNGS in improving diagnostic efficiency and precision treatment. However, it also faces challenges such as technical limitations, result interpretation, high cost, and lack of standardization. This article outlines the application, advantages, challenges, and future prospects of mNGS in diagnosing central nervous system infections. With decreasing sequencing costs and improvements in bioinformatics tools, mNGS has the potential to become an important supplement to routine clinical testing in the future.