Clinical and public health utility of Mycobacterium tuberculosis whole genome sequencing

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., 2020World Health Organization Global tuberculosis report 2020. World Health Organization, 2020Google Scholar).Whole genome sequencing (WGS) is becoming increasingly accessible, and has particular value in the diagnosis and management of TB disease (Cabibbe et al., 2018Cabibbe A.M. Walker T.M. Niemann S. Cirillo D.M. Whole genome sequencing of Mycobacterium tuberculosis.Eur Respir J. 2018; 52: 1801163Crossref PubMed Scopus (22) Google Scholar; Meehan et al., 2019Meehan C.J. Goig G.A. Kohl T.A. Verboven L. Dippenaar A. Ezewudo M. et al.Whole genome sequencing of Mycobacterium tuberculosis: current standards and open issues.Nat Rev Microbiol. 2019; 17: 533-545Crossref PubMed Scopus (119) Google Scholar). 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.