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结核分枝杆菌全基因组测序的临床及公共卫生应用价值

Clinical and public health utility of Mycobacterium tuberculosis whole genome sequencing.

作者信息

Kizny Gordon Alice, Marais Ben, Walker Timothy M, Sintchenko Vitali

机构信息

Centre for Infectious Diseases and Microbiology - Public Health, Westmead Hospital, Western Sydney Local Health District, Sydney, New South Wales, Australia; Sydney Medical School, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia.

WHO Collaborating Centre for Tuberculosis, The University of Sydney, Sydney, New South Wales, Australia; Marie Bashir Institute for Infectious Diseases and Biosecurity, The University of Sydney, Sydney, New South Wales, Australia.

出版信息

Int J Infect Dis. 2021 Dec;113 Suppl 1:S40-S42. doi: 10.1016/j.ijid.2021.02.114. Epub 2021 Mar 11.

Abstract

The World Health Organization (WHO) estimates that around 10 million people develop tuberculosis (TB) every year, with 1.5 million deaths attributed to TB in 2019 (World Health Organization, 2020). The majority of the disease burden occurs in low-income countries, where access to diagnostics and tailored treatment remains problematic. The current COVID-19 pandemic further threatens to impact global TB control by diverting resources, reducing notifications and hence significantly increasing deaths attributable to TB (World Health Organization, 2020). Whole genome sequencing (WGS) is becoming increasingly accessible, and has particular value in the diagnosis and management of TB disease (Cabibbe et al., 2018; Meehan et al., 2019). Not only does it have the potential to give more rapid and complete information on drug-resistance, but the high discriminatory power it offers allows detection of clusters and transmission pathways, as well as likely contamination events, mixed infections and to differentiate between re-infection and relapse with much greater confidence than previous typing methods.

摘要

世界卫生组织(WHO)估计,每年约有1000万人感染结核病(TB),2019年有150万人死于结核病(世界卫生组织,2020年)。该疾病的负担主要集中在低收入国家,在这些国家,获得诊断和个性化治疗仍然存在问题。当前的COVID-19大流行进一步威胁到全球结核病控制,因为它会转移资源、减少病例报告,从而显著增加结核病导致的死亡人数(世界卫生组织,2020年)。全基因组测序(WGS)越来越容易获得,在结核病的诊断和管理中具有特殊价值(卡比贝等人,2018年;米汉等人, 2019年)。它不仅有可能提供关于耐药性的更快速和完整的信息,而且其高鉴别力能够检测出聚集性病例和传播途径,以及可能的污染事件、混合感染,并能比以前的分型方法更有信心地区分再感染和复发。

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