靶向二代测序在感染性疾病中的临床诊断价值(综述)。

Clinical diagnostic value of targeted next‑generation sequencing for infectious diseases (Review).

机构信息

Department of Laboratory Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100000, P.R. China.

Emergency Department, The 305th Hospital of the People's Liberation Army of China, Beijing 100000, P.R. China.

出版信息

Mol Med Rep. 2024 Sep;30(3). doi: 10.3892/mmr.2024.13277. Epub 2024 Jul 4.

Abstract

As sequencing technology transitions from research to clinical settings, due to technological maturity and cost reductions, metagenomic next‑generation sequencing (mNGS) is increasingly used. This shift underscores the growing need for more cost‑effective and universally accessible sequencing assays to improve patient care and public health. Therefore, targeted NGS (tNGS) is gaining prominence. tNGS involves enrichment of target pathogens in patient samples based on multiplex PCR amplification or probe capture with excellent sensitivity. It is increasingly used in clinical diagnostics due to its practicality and efficiency. The present review compares the principles of different enrichment methods. The high positivity rate of tNGS in the detection of pathogens was found in respiratory samples with specific instances. tNGS maintains high sensitivity (70.8‑95.0%) in samples with low pathogen loads, including blood and cerebrospinal fluid. Furthermore, tNGS is effective in detecting drug‑resistant strains of , allowing identification of resistance genes and guiding clinical treatment decisions, which is difficult to achieve with mNGS. In the present review, the application of tNGS in clinical settings and its current limitations are assessed. The continued development of tNGS has the potential to refine diagnostic accuracy and treatment efficacy and improving infectious disease management. However, further research to overcome technical challenges such as workflow time and cost is required.

摘要

随着测序技术从研究向临床环境的转变,由于技术的成熟和成本的降低,宏基因组下一代测序(mNGS)的应用越来越广泛。这种转变突显了对更具成本效益和普遍可及的测序检测方法的需求不断增长,以改善患者护理和公共卫生。因此,靶向 NGS(tNGS)越来越受到关注。tNGS 涉及基于多重 PCR 扩增或探针捕获对患者样本中的目标病原体进行富集,具有出色的灵敏度。由于其实用性和效率,tNGS 在临床诊断中得到了越来越多的应用。本综述比较了不同富集方法的原理。发现 tNGS 在呼吸道样本中检测病原体的阳性率很高,在特定情况下阳性率高达 100%。tNGS 在病原体负荷较低的样本(包括血液和脑脊液)中保持较高的灵敏度(70.8-95.0%)。此外,tNGS 可有效检测耐药菌株,能够识别耐药基因并指导临床治疗决策,这是 mNGS 难以实现的。本文评估了 tNGS 在临床环境中的应用及其目前的局限性。tNGS 的持续发展有可能提高诊断准确性和治疗效果,改善传染病管理。然而,需要进一步研究来克服技术挑战,如工作流程时间和成本。

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