The application of metagenomic second-generation sequencing (mNGS) is shifting from research to clinical laboratories due to rapid technological advances and significant cost reductions. Although many studies and case reports have confirmed that the success of mNGS in improving the prevention, diagnosis, treatment and tracking of infectious diseases, there are still some obstacles that must be overcome. The results of mNGS show all the possible pathogens in the sample, however, in the face of thousands of microbes that can infect humans, it remains challenging to accurately identify the key pathogens. So far, there is no unified interpretation standard for mNGS in clinical practice. This article reviews the interpretation of mNGS results for pathogen infection in different systems, the clinical interpretation and application regulations of mNGS results, and the challenges of mNGS interpretation in pathogen diagnosis.
由于技术的快速发展和成本的大幅降低，宏基因组下一代测序（metagenomic next-generation sequencing，mNGS）的应用正在从研究转向临床实验室。尽管许多研究和病例报告已经证实mNGS在改进传染病的预防、诊断、治疗和追踪方面取得了成功，但仍有一些障碍必须克服。mNGS的结果会展示样本中的全部可能病原体，然而面对着数千种会感染人类的微生物，如何准确判读其中关键致病病原体是具有挑战性的。迄今为止，在临床实践中，mNGS的解读标准也尚未统一。本文就mNGS在不同系统中病原体感染的结果解读，mNGS结果的临床解读和应用规则，以及mNGS解读在病原体诊断中面临的挑战进行阐述。.