The microbiological diagnostic performance of metagenomic next-generation sequencing in patients with infectious diseases.

Lei Yuan, Qing Zhu, Qiang Chen, Lan Min Lai, Peng Liu, Yang Liu
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Abstract

Objective: Metagenomic next-generation sequencing (mNGS) can be used to detect pathogens in clinical infectious diseases through the sequencing analysis of microbial and host nucleic acids in clinical samples. This study aimed to assess the diagnostic performance of mNGS in patients with infections.

Methods: In this study, 641 patients with infectious diseases were enrolled. These patients simultaneously underwent pathogen detection by both mNGS and microbial culture. Through statistical analysis, we judged the diagnostic performance of mNGS and microbial culture on different pathogens.

Results: Among 641 patients, 276 cases of bacteria and 95 cases of fungi were detected by mNGS, whereas 108 cases of bacteria and 41 cases of fungi were detected by traditional cultures. Among all mixed infections, combined bacterial and viral infections were the highest (51%, 87/169), followed by combined bacterial with fungal infections (16.57%, 28/169) and mixed bacterial, fungal, and viral infections (13.61%, 23/169). Among all sample types, bronchoalveolar lavage fluid (BALF) samples had the highest positive rate (87.8%, 144/164), followed by sputum (85.4%, 76/89) and blood samples (61.2%, 158/258). For the culture method, sputum samples had the highest positive rate (47.2%, 42/89), followed by BALF (37.2%, 61/164). The positive rate of mNGS was 69.89% (448/641), which was significantly higher than that of traditional cultures (22.31% [143/641]) (P < .05).

Conclusions: Our results show that mNGS is an effective tool for the rapid diagnosis of infectious diseases. Compared with traditional detection methods, mNGS also showed obvious advantages in mixed infections and infections with uncommon pathogens.

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元基因组下一代测序在传染病患者中的微生物诊断性能。
目的:通过对临床样本中的微生物和宿主核酸进行测序分析,元基因组新一代测序(mNGS)可用于检测临床感染性疾病中的病原体。本研究旨在评估 mNGS 在感染性疾病患者中的诊断性能:方法:本研究共招募了 641 名感染性疾病患者。这些患者同时接受了 mNGS 和微生物培养的病原体检测。通过统计分析,我们判断了 mNGS 和微生物培养对不同病原体的诊断效果:结果:在 641 例患者中,mNGS 检测出 276 例细菌和 95 例真菌,而传统培养检测出 108 例细菌和 41 例真菌。在所有混合感染中,细菌和病毒混合感染率最高(51%,87/169),其次是细菌和真菌混合感染(16.57%,28/169)以及细菌、真菌和病毒混合感染(13.61%,23/169)。在所有样本类型中,支气管肺泡灌洗液(BALF)样本的阳性率最高(87.8%,144/164),其次是痰液(85.4%,76/89)和血液样本(61.2%,158/258)。在培养法中,痰样本的阳性率最高(47.2%,42/89),其次是 BALF(37.2%,61/164)。mNGS 的阳性率为 69.89%(448/641),显著高于传统培养法(22.31% [143/641])(P < .05):我们的研究结果表明,mNGS 是快速诊断传染病的有效工具。与传统检测方法相比,mNGS 在混合感染和不常见病原体感染中也表现出明显优势。
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