WHO launches new guidance on use of targeted NGS tests for diagnosis of drug-resistant TB

The recommendations provide a novel approach for the rapid detection of drug resistance to new anti-TB drugs using the latest technologies

The World Health Organization (WHO) has published recommendations on the use of a new class of diagnostic technologies: targeted next-generation sequencing (NGS) tests for the diagnosis of drug-resistant tuberculosis (TB) in the third edition of the Consolidated guidelines on tuberculosis. Module 3: Diagnosis. Rapid diagnostics for tuberculosis detection. The recommendations provide a novel approach for the rapid detection of drug resistance to new anti-TB drugs using the latest technologies.

“The diagnostic options for people with drug-resistant TB are increasing thanks to manufacturer engagement and research, generating new evidence. Ensuring that everyone in need can obtain a rapid and accurate diagnosis with the latest state-of-the-art technologies, will advance efforts at preventing and finally ending TB,” said Dr Tereza Kasaeva, Director of WHO’s Global TB Programme.

The guidelines are accompanied by a WHO operational handbook, which provides laboratory personnel, clinicians and other clinical staff, as well as ministries of health and technical partners, detailed guidance on implementing the evidence-based recommendations, including recent updates on targeted NGS tests. It describes the WHO-recommended tests for the rapid bacteriological diagnosis of TB disease, including procedures for the tests, model algorithms, and the steps and processes required to implement and scale up new tests to diagnose TB and detect resistance to anti-TB drugs.

To accompany the new guidance, WHO has also launched a new TB sequencing portal with more than 56,000 sequences. The portal, developed in partnership with FIND and Unitaid, represents the most advanced sequencing and phenotyping knowledgebase for Mycobacterium tuberculosis. The portal includes a dashboard visualising the data used in the WHO mutation catalogue published in November 2023. A search function assists the user to visualise mutation frequencies and their association with drug resistance. The portal allows users to download summary data and upload new data. Newly uploaded sequences with matching phenotypic drug susceptibility results undergo automatic processing and analysis. As a result the portal is automatically updated as new data is uploaded.

The WHO TB sequencing portal aims to contribute to our collective understanding of mutations in the Mycobacterium tuberculosis genome and their association with drug resistance.