微生物全基因组测序在预防医学领域的应用

摘要

When being faced with infectious disease caused by a specific pathogen, several immediate questions need to be addressed to make effective prevention and control strategy. Firstly, where does the pathogen come from, and what is the possible transmission pathway? Secondly, what are the surviving, virulent and antibiotic resistance features of the etiologic agent? Thirdly, what kind of epidemiological pattern of a disease is revealed by the pathogen's genomic analysis? Dramatic development of high-throughput sequencing technology and bioinformatic analysis strategy has provided novel solutions to these questions in recent years. In this review, the authors summarize the successful application cases of the next-generation whole-genome sequencing technology in the area of preventive medicine, including epidemiological investigation for source-tracing, rapid identification of pathogen's fea-tures, epidemiological characteristics of a disease, and surveillance and evaluation of live attenuated vaccine variations, and also dis-cuss the questions presenting in current stage and propose the possible scenario of this research area in the future.%病原微生物引起传染病疫情时，预防医学工作者会面临以下几个重要问题：①病原从哪里来，可能的传播途径是什么；②病原有哪些生存能力、毒力和耐药特性；③病原所致疾病有着怎样的流行规律。高通量测序技术以及与之相伴的信息学分析技术的飞速发展，为上述问题提供了新的思路和解决方案。本文从流行病学调查溯源、病原体特性的快速判定、疾病流行规律分析以及疫苗变异监测和使用效果评价四个方面，总结归纳了新一代全基因组测序技术在预防医学领域中的应用实例，并对该研究方向存在的问题及未来发展进行了展望。