Current perceptions on advanced molecular diagnostics for drug-resistant mycobacterium tuberculosis

Abstract

Globally, rising drug-resistant tuberculosis is a significant public health concern. Prompt diagnosis of tuberculosis and detection of drug-resistant TB within a clinically appropriate timeframe is important for the effective management of the disease. Imaging approaches Chest X-rays, CT, MRI, nuclear medicine technique as PET/CT are non-specific, plays an important role in the diagnosis and assessment of TB, but PET/CT sometimes results in false-positive or negative due to benign lesions. Currently using the point of care molecular modalities, GeneXpert MTB/RIF and line probe assays focused only on resistance-conferring mutations in specific target hotspot regions, but did not identify novel mutations, outside mutations and they may miss some locally prevalent rifampicin-conferring mutations, and not provided a large number of antibiotics/antibiotic groups that are used for DRTB treatment. Recently revolutionized high throughput next generation sequencing (NGS) technologies are offering new prospects for molecular diagnosis, for example, infectious disease pathogens like tuberculosis, influenza, and most recently SARS-CoV-2. NGS is an essential resource for the tuberculosis community either target, WGS, or NGS; a rapid method that offers a complete spectrum of Mycobacterium tuberculosis resistance mutations, strain typing for transmission surveillance, unlike traditional molecular or phenotypic DST. It shall be helpful for early regimen design and TB management before mutations emerge and therefore, we believe that the worldwide TB infection will be eliminated by the use of NGS.