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,...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.展开更多
感染性疾病发病率、死亡率仍位居全球前列。早期、精准明确致病病原体对该疾病临床工作诊治尤为关键。传统病原学检测技术耗时长,且敏感度及特异度均低,容易遗漏某些常见病原体。因此为更好满足当今感染性疾病诊治的临床需求,需要寻找...感染性疾病发病率、死亡率仍位居全球前列。早期、精准明确致病病原体对该疾病临床工作诊治尤为关键。传统病原学检测技术耗时长,且敏感度及特异度均低,容易遗漏某些常见病原体。因此为更好满足当今感染性疾病诊治的临床需求,需要寻找更敏感、高效、适用性强的病原学检测方法。靶向二代测序技术相对于传统检测技术而言,具有通量高、耗时短、无偏倚、成本较低等独特优势,能真实获得检出病原体的拷贝数,在感染性疾病诊断中具有重要参考价值。本文就靶向二代测序技术在感染性疾病诊断中应用进行综述。The incidence rate and mortality rate of infectious diseases are still among the highest in the world. Early and accurate identification of the pathogenic pathogen is particularly critical for clinical diagnosis and treatment of the disease. Traditional etiological detection techniques are time-consuming, with low sensitivity and specificity, and are prone to missing certain common pathogens. Therefore, in order to better meet the clinical needs of diagnosis and treatment of infectious diseases, it is necessary to find more sensitive, efficient, and applicable etiological detection methods. Compared with traditional detection technology, targeted next-generation sequencing technology has unique advantages such as high throughput, short time consumption, no bias, and low cost. It can truly obtain the copy number of pathogens detected, and has important reference value in the diagnosis of infectious diseases. This article reviews the application of targeted next-generation sequencing technology in the diagnosis of infectious diseases.展开更多
目的评价靶向二代测序(targeted next generation sequencing,tNGS)技术在骨关节布氏菌病病原学诊断中的应用价值。方法收集河北省胸科医院收治的108例疑似骨关节布氏菌病患者的病例资料进行研究,主要根据流行病史、临床表现、影像学表...目的评价靶向二代测序(targeted next generation sequencing,tNGS)技术在骨关节布氏菌病病原学诊断中的应用价值。方法收集河北省胸科医院收治的108例疑似骨关节布氏菌病患者的病例资料进行研究,主要根据流行病史、临床表现、影像学表现、实验室和病原学检查结果及抗布氏杆菌治疗效果进行临床综合诊断。根据最终临床诊断将患者分为骨关节布氏菌病组78例和非布氏菌病组30例。所有患者入院后均进行血清试管凝集试验(serum agglutination test,SAT)检测、采用CT导航穿刺或者手术取病灶组织样本进行细菌学培养(培养法)和tNGS检测。以最终临床诊断为参照标准,比较以上3种检测方法对骨关节布氏菌病的诊断效能。结果108例疑似骨关节布氏菌病患者中,tNGS检测骨关节布氏菌病的阳性率(60/108,55.56%)明显高于SAT检测(57/108,52.78%)和培养法(25/108,23.15%),差异有统计学意义(χ^(2)=24.982、37.934,P<0.001)。以最终临床诊断为标准,tNGS检测、SAT检测和培养法检测骨关节布氏菌病的敏感度分别为76.92%、64.10%和32.05%,特异度分别为100.00%、76.67%和100.00%,诊断符合率分别为83.35%、67.59%和50.92%,Kappa值分别为0.799、0.590和0.504。结论tNGS在骨关节布氏菌病患者的病原学诊断中具有较高的病原体检出率和敏感度,为骨关节布氏菌病患者的精准诊治提供重要参考。展开更多
文摘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.
文摘感染性疾病发病率、死亡率仍位居全球前列。早期、精准明确致病病原体对该疾病临床工作诊治尤为关键。传统病原学检测技术耗时长,且敏感度及特异度均低,容易遗漏某些常见病原体。因此为更好满足当今感染性疾病诊治的临床需求,需要寻找更敏感、高效、适用性强的病原学检测方法。靶向二代测序技术相对于传统检测技术而言,具有通量高、耗时短、无偏倚、成本较低等独特优势,能真实获得检出病原体的拷贝数,在感染性疾病诊断中具有重要参考价值。本文就靶向二代测序技术在感染性疾病诊断中应用进行综述。The incidence rate and mortality rate of infectious diseases are still among the highest in the world. Early and accurate identification of the pathogenic pathogen is particularly critical for clinical diagnosis and treatment of the disease. Traditional etiological detection techniques are time-consuming, with low sensitivity and specificity, and are prone to missing certain common pathogens. Therefore, in order to better meet the clinical needs of diagnosis and treatment of infectious diseases, it is necessary to find more sensitive, efficient, and applicable etiological detection methods. Compared with traditional detection technology, targeted next-generation sequencing technology has unique advantages such as high throughput, short time consumption, no bias, and low cost. It can truly obtain the copy number of pathogens detected, and has important reference value in the diagnosis of infectious diseases. This article reviews the application of targeted next-generation sequencing technology in the diagnosis of infectious diseases.
