Clinical standardization of metagenomic next generation sequencing (mNGS) in the pathogen diagnosis

Abstract

Background: With the development and advancement of gene sequencing technologies, next generation sequencing, especially metagenomic next generation sequencing (mNGS), has been explored in infectious disease diagnosis. Aims: To first introduce the standardization of each step of mNGS, the interpretation of positive and negative results and their clinic application in pathogen diagnosis. Methods: A typical workflow of mNGS includes six main steps: sample collection, nucleic acid extraction, library construction, sequencing, data analysis and report writing. Results: Based on our previous work, we introduce the standardization of steps of mNGS in pathogen diagnosis and summarize the interpretation of positve and negative results and their application in clinic settings. Conclusion: It is believed that this clinical standardization of mNGS could be a routine diagnostic tool for infectious diseases in coming future.