病原体宏基因组测序临床报告阈值的再讨论

doi:10.16150/j.1671-2870.2025.06.002

诊断学理论与实践 ›› 2025, Vol. 24 ›› Issue (06): 576-582.doi: 10.16150/j.1671-2870.2025.06.002

病原体宏基因组测序临床报告阈值的再讨论

吴文娟¹(), 田文杰¹, 苟雪静²

1.同济大学附属东方医院南院检验科，上海 200123
2.广州微远基因科技有限公司，广州 510000

收稿日期:2025-09-18 修回日期:2025-10-27 出版日期:2025-12-25 发布日期:2025-12-25
通讯作者: 吴文娟 E-mail： wwj1210@126.com
基金资助:
国家自然科学基金(82572595);国家自然科学基金国际（地区）合作与交流项目(W2411075);国家重点研发计划(2024YFC2309600)

Further discussion on clinical report thresholds for pathogen metagenomic next-generation sequencing

WU Wenjuan¹(), TIAN Wenjie¹, GOU Xuejing²

1. Department of Laboratory Medicine, East Hospital Affiliated to Tongji University, Shanghai 200123, China
2. Guangzhou Weiyuan Gene Technology Co., Ltd., Guangdong Guangzhou 510000, China

Received:2025-09-18 Revised:2025-10-27 Published:2025-12-25 Online:2025-12-25

摘要/Abstract

摘要：

近年来，病原体宏基因组测序（metagenomic next-generation sequencing，mNGS）技术已被广泛应用于疑难、危重及特殊感染患者的病原学诊断中，弥补了传统检测方法的不足。然而，mNGS结果的临床解读高度依赖于阈值的设定，当前尚无统一标准。病原体mNGS临床报告阈值的个体化设定需综合考量病原体特性、背景微生物基线、基因组覆盖度等技术因素，以及宿主状态、临床症状、样本类型、治疗反应等临床多重因素，最终目标是为临床提供更具指导意义的病原学诊断。笔者从临床实验室视角出发，回顾病原体mNGS临床报告阈值设定的现状与挑战，分析不同病原体类别在mNGS阈值设定中的差异逻辑，并探讨未来临床实践中mNGS临床报告阈值设定个性化、智能化的发展方向。

关键词: 宏基因组测序, 病原体, 阈值, 临床解读

Abstract:

In recent years, pathogen metagenomic next-generation sequencing (mNGS) technology has been widely applied in the etiological diagnosis of complex, severe, and atypical infections, addressing the limitations of conventional detection methods. However, the clinical interpretation of mNGS results relies highly on the setting of thresholds, and currently there is no unified standard. The individualized setting of clinical report thresholds for pathogen mNGS requires comprehensive consideration of technical factors, such as pathogen characteristics, background microbial baseline, and genome coverage, as well as multiple clinical factors, including host status, clinical symptoms, sample type, and treatment response. The ultimate goal is to provide more clinically informative etiological diagnoses. From the perspective of the clinical laboratory, the current status and challenges of clinical report threshold setting for pathogen mNGS are reviewed, the differential logic of threshold setting across different pathogen categories is analyzed, and the future development directions towards personalized and intelligent approaches in setting mNGS clinical report thresholds for clinical practice are explored.

Key words: Metagenomic next-generation sequencing, Pathogen, Threshold, Clinical interpretation

中图分类号:

R446.7

吴文娟, 田文杰, 苟雪静. 病原体宏基因组测序临床报告阈值的再讨论[J]. 诊断学理论与实践, 2025, 24(06): 576-582.

WU Wenjuan, TIAN Wenjie, GOU Xuejing. Further discussion on clinical report thresholds for pathogen metagenomic next-generation sequencing[J]. Journal of Diagnostics Concepts & Practice, 2025, 24(06): 576-582.

图/表 1

参考文献 18

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病原体宏基因组测序临床报告阈值的再讨论

Further discussion on clinical report thresholds for pathogen metagenomic next-generation sequencing

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