總體基因體次世代定序於鑑定感染症病原之臨床應用建議

Recommendations for the Clinical Application of Metagenomic Next-Generation Sequencing in the Identification of Infectious Disease Pathogens

感染症一直以來都是人們生命健康的重大威脅，但因爲種種的因素現今的臨床診斷方式，造成病原檢出率不如預期，進而無法及時的提供準確的診斷依據。總體基因體次世代定序技術（metagenomic Next-Generation Sequencing, mNGS）的迅速發展，臨床病原檢測帶來了顯著的革新，此種全面、準確與快速的檢測方式，可以大幅提高嚴重、複雜、罕見和新興病原感染病人的臨床診斷和治療能力。因為此檢測方法具有較高的技術門檻，在此建議中，分別針對送檢時機、考量、檢測應用場景，進行詳細的說明。同時，對於檢體的採檢、運送、檢測與報告判讀等環節，也提供了標準化的要求與建議，來確保使用此類檢測的檢驗品質。

Infectious diseases have always been a major threat to human health. However, current clinical diagnostic methods, due to various factors, have led to lower-than-expected pathogen detection rates, making it difficult to provide timely and accurate diagnostic information. The rapid development of metagenomic next-generation sequencing (mNGS) technology has brought significant advancements to clinical pathogen detection. This comprehensive, precise, and fast technique significantly improves the ability to diagnose and treat patients with severe, complex, rare, or emerging pathogen infections. Given the high technical demands of this method, the recommendations outlined here provide detailed guidance on optimal testing timing, considerations, and application scenarios. Additionally, standardized protocols for specimen collection, transportation, testing, and result interpretation are proposed to ensure high-quality diagnostics when using mNGS.