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葡萄牙的Mycobacterium结核病基于全基因组测序的监测系统
1Genomics and Bioinformatics Unit, Department of Infectious Diseases, National Institute of Health, Lisbon, Portugal, Avenida Padre Cruz, 1649-016, Lisbon, Portugal.
Tuberculosis (Edinburgh, Scotland)
|September 18, 2025
概括
葡萄牙加强了使用全基因组测序 (WGS) 对所有隔离物的结核病监测. 这种基因组方法改善了抗菌素耐药性的预测和流行病学分析,加强了结核病的诊断和管理.
科学领域:
- 基因组学就是基因组学.
- 流行病学 流行病学
- 微生物学 微生物学
背景情况:
- 葡萄牙国家参考实验室 (NRL) 在2019年启动了针对利法素/多药耐药结核病 (RR/MDR-TB) 的全基因组测序 (WGS).
- 2020年,WGS的实施扩大到包括所有结核病 (TB) 隔离物,以进行全面的监测.
研究的目的:
- 描述葡萄牙目前基于WGS的结核病监测系统.
- 用基因组数据增强抗菌素耐药性 (AMR) 预测和流行病学分析.
- 使用前性和后性数据 (n=1171) 评估系统的有效性.
主要方法:
- 实施了三步WGS管道:QC/QA与新型数据过,基因型和AMR预测以及基于SNP的动态分析.
- 开发了一种新的过步骤,以改善受污染样本的数据质量.
- 最大化变量站点,以提高基因型和集群分析中的分辨率.
主要成果:
- 第4个血统 (84.3%) 和第2个血统 (9.1%) 是葡萄牙最常见的结核病血统.
- 不太常见的血统 (3和6) 表示跨境传输.
- 确定了157个具有明显AMR概况和流行病学背景的分子.
结论:
- 持续的前性基因组监测对于加强葡萄牙的结核病管理和诊断至关重要.
- 管道升级,包括新的过和最大化的变量站点,显著改善了WGS数据实用性.
- 世界结核系统为结核病流行病学和AMR提供了宝贵的见解,支持公共卫生干预措施.
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