感染性疾病是临床常见疾病,快速明确病原微生物对于指导合理治疗方案至关重要。传统的病原体检测方法耗时长、阳性率低,难以满足临床需求。宏基因组二代测序(metagenomic next-generation sequencing, mNGS)作为一种新型病原检测方法,不依赖于传统的微生物培养,也不需要特异性扩增,且其检测范围广泛,可检测细菌、病毒、真菌、寄生虫、罕见病原体,甚至未知病原体,近年来,已广泛应用于临床病原学诊断。尤其是基于血浆游离DNA (cell-free DNA, cfDNA)的mNGS检测,因其采样便捷、无创性及对全身感染的反映能力,已在临床诊断中得到了广泛的关注和应用。本文综述了血浆cfDNA mNGS在感染性疾病诊断中的临床价值、研究进展及未来展望,旨在为相关研究和临床实践提供参考。Infectious diseases are common in clinical practice, and the rapid identification of causative pathogens is crucial for guiding rational treatment strategies. Conventional microbiological tests are time-consuming and have low positivity rates, making it difficult to meet clinical needs. Metagenomic next-generation sequencing (mNGS), as an emerging pathogen detection method, does not rely on conventional microbial culture or specific amplification. With its broad detection scope, mNGS can identify bacteria, viruses, fungi, parasites, rare pathogens, and even unknown pathogens. In recent years, it has been widely applied in clinical pathogen diagnosis. In particular, plasma cell-free DNA (cfDNA) mNGS has gained significant attention and widespread clinical application due to its ease of sampling, noninvasive nature, and ability to reflect systemic infections. This review summarizes the clinical value, recent advances, and future perspectives of plasma cfDNA mNGS in the diagnosis of infectious diseases, aiming to provide insights for further research and clinical practice.
