MedGenome, a leading global genomics company in South Asia, has partnered with Darshan GIVA Foundation, a non-governmental organization, to pioneer a transformative approach to TB diagnosis and treatment.

The partnership aims at an access intervention pilot for offering Whole Genome Sequencing (WGS) testing free of cost to pre diagnosed Drug-resistant TB (DRTB) patients. The goal is to integrate Whole genome sequencing based TB testing into India’s National Tuberculosis Elimination program and incorporating it into standard diagnosis recommendations of the World Health Organization (WHO). Simultaneously, the accuracy of the diagnostic results of WGS will be validated vis a vis gold standard diagnostic testing method, namely Liquid culture Drug Susceptibility Testing (LCDST) and Line Probe Assay 1 & Line Probe Assay 2 (LPA 1 & LPA 2).

Darshan GIVA Foundation (DGF) is at the forefront in this access intervention pilot with collaborative efforts partnering with government agencies, Mylan Pharmaceuticals and MedGenome. The project is aimed at supporting the Government of India’s 2025 TB elimination goals by making evidence-based recommendations for the use of WGS by clinicians, accelerating testing phase through accurate & quick determination of drug susceptibility in DRTB diagnosis, enabling customised & effective treatment for these DRTB patients.

Currently in India, WGS is primarily utilized for surveillance purposes. However, it has a potential to provide additional insights into the susceptibility of 18 drugs. The project aims to fill this gap by generating data-based evidence to assess the concordance between MedGenome’s WGS test, SPIT SEQ and the existing gold standard diagnostic tests including LCDST, LPA1 & LPA 2. The study’s hypothesis is that SPIT SEQ will significantly expedite the confirmation of diagnosis of DRTB & determination of drug susceptibility and help in initiating tailored treatment for each patient. Several similar studies are underway to validate WGS against established tests and evaluate patient outcomes based on tailored drug regimens informed by WGS results. These tests further reduce the turnaround time thereby enabling clinicians to prescribe more effective treatments and to reduce the occurrence of adverse drug reactions. This fast-tracks approach holds promise for mitigating the large TB disease burden, particularly in high-risk areas and in cases where conventional phenotypic tests fail to yield conclusive results due to paucibacillary diseases.

The SPIT SEQ test from MedGenome is a Next-generation sequencing (NGS) based culture-free test for diagnosing Multidrug-resistant TB (MDR-TB). It offers an advanced solution to TB diagnosis that is faster and more accurate than conventional methods. Unlike traditional techniques, which may take months to confirm TB and identify the most effective medicines for treatment, SPIT SEQ delivers this critical information in less than two weeks. Administering the appropriate medication from the outset significantly reduces the risk of patients developing antibiotic resistance, thereby increasing the likelihood of curing drug-resistant TB. Additionally, tailored and more effective treatments shorten the time that patients remain infectious, ultimately limiting the spread of the disease within communities. The world is currently experiencing a ‘genomics revolution’ driven by NGS, and SPIT SEQ is at the forefront of harnessing this innovation for the benefit of TB patients and TB control programs.

Tuberculosis (TB) continues to be a major public health concern, both in India and around the world and according to recent data, it is the 13th leading cause of death globally and the second leading cause of death from a single infectious agent, second only to COVID-19. In 2020, the number of TB-related deaths surged in most high TB burden countries, including India. A World Health Organization (WHO) report from 2020 revealed that out of 5.8 million new TB cases worldwide, a staggering 1.8 million were reported in India. Furthermore, WHO estimated that in 2021, approximately 450,000 new cases of multidrug-resistant TB emerged, including about 6% classified as extensive drug-resistant TB (XDR-TB). India is among the top three countries with the highest number of multi-drug resistant/rifampicin-resistant TB (MDR/RR-TB) cases, constituting 27% of global MDR/RR-TB cases.