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

doi:10.16150/j.1671-2870.2025.06.002

Abstract

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

CLC Number:

R446.7

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.

Figures/Tables 1

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