高通量靶向测序(tNGS)在评估儿童哮喘病原学检测中的前景分析

Prospective Analysis of High-Throughput Targeted Next-Generation Sequencing (tNGS) in Evaluating Pathogen Detection for Pediatric Asthma

摘要: 呼吸道感染是哮喘的主要诱发因素之一，病原体常见于外源性入侵致病菌和内源性定植菌机会感染，且几乎所有的病原体都含有DNA或RNA。因此，测序成为病原体检测的一种理想方法。高通量靶向测序是在高通量下一代测序技术基础上，通过特定片段库调取数十或数百种已知病原体核酸片段后，再去针对性测序，其可以规避大量人源宿主核酸干扰，在检测范围广的同时大幅度提高病原体检出率。本文描述靶向测序在哮喘患儿呼吸道病原体检测中的作用，并分析其前景。内容包括：(a) 靶向测序技术原理及临床检测流程；(b) 靶向测序相较传统测序的优劣对比；(c) tNGS在临床应用层面的挑战与策略；(d) 病原体分析对儿童哮喘的重要性。靶向测序是一项新兴技术，其随着近些年片段库的完善补充和手段成熟，有望显著提升临床医师对于儿童呼吸道病原体检测和分析能力。

Abstract: Respiratory infections are one of the main triggers of asthma, commonly caused by exogenous invading pathogens or endogenous colonizing bacteria that lead to opportunistic infections. Nearly all such pathogens contain DNA or RNA, making sequencing an ideal method for pathogen detection. Targeted high-throughput sequencing builds upon next-generation sequencing technologies by selectively amplifying and sequencing nucleic acid fragments from dozens or hundreds of known pathogens using specific gene panels. This approach effectively avoids interference from abundant human host nucleic acids, enabling broad detection coverage while significantly improving pathogen detection rates. This article discusses the role of targeted sequencing in detecting respiratory pathogens in asthmatic children and analyzes its future prospects. The content includes: (a) The principles of targeted sequencing technology and its clinical workflow; (b) A comparative analysis of advantages and limitations between targeted sequencing and conventional sequencing methods; (c) Challenges and Strategies of tNGS in Clinical Application; (d) The importance of pathogen analysis in pediatric asthma. As a relatively new technology, targeted sequencing has seen continuous improvements in gene panel development and technical refinement in recent years, offering great potential to substantially enhance clinicians’ capabilities in detecting and analyzing respiratory pathogens in children.