Soon, doctors may be able to quickly and accurately prescribe the most effective drug to a tuberculosis patient, using a Whole-Genome Sequencing-based test – SPIT SEQ (spit sequencing).

This test, developed by MedGenome Labs — a clinical data driven genetic diagnostics and drug discovery research organisation — can provide a detailed analysis of every single mutation present in any TB bacteria causing drug resistance, directly from the sputum.

Typically, the process of analysing drug resistance is quite long thereby delaying treatment for MDR-TB patients. The existing sputum smear microscopy, Cartridge Based Nucleic Acid Amplification Test (CB-NAAT) and culture tests are not only time-consuming but do not provide a detailed analysis of resistance developed by the patient to every single mutation in the bacteria.

This test has been validated with over 100 samples recorded with 100% sensitivity and 98.04 % specificity when compared with Line Probe Assay (LPA). Fifty of those samples were in association with P.D. Hinduja Hospital and Medical Research Centre, Mumbai, said V.L. Ramprasad, Chief Operating Officer, MedGenome Labs.

With India having the largest number of multidrug resistant (MDR-TB) TB cases, SPIT SEQ can be a boon to TB patients, clinicians and healthcare agencies to achieve India’s Sustainable Development Goal (SDG) of elimination TB by 2025.

“The test now costs around ₹7,500 and takes around eight days. If the volumes increase, the cost can further reduce. We will soon publish our research in a journal. We are also working with the government to integrate the test in the public health programme. We are hoping the test should be available in the clinical market within three months,” Dr. Ramprasad said.

Camilla Rodriques, of P.D. Hinduja Hospital and Medical Research Centre, said direct whole-genome sequencing reveals information on drug resistance mutation for all anti-TB drugs within 10 days. “Soon, this technology will help in optimizing the precise management of an MDR-TB patient,” she said.

Infectious diseases

Meanwhile, the organisation also announced its entry into infectious disease genetics. MedGenome is collaborating with XCyton Diagnostics, Bengaluru, to boost integration of various genetic tests under infectious diseases available with XCyton through the network established by the company. These tests are for eye infections, brain (meningitis and encephalitis) and and blood stream infections (sepsis).

SES development

V. Ravi, Senior Professor and Head, Department of Neurovirology at NIMHANS, said these infections pose the greatest challenge to physicians.

“Firstly, they are serious, life- threatening infections with high morbidity and mortality and secondly, they provide a very small window (72 hours) for diagnosis and appropriate therapeutic intervention. Lastly a large number of micro-organisms are known to cause these infections. It is in this context, that experts came together for the development of the Syndrome Evaluation System (SES) for both these life-threatening infections. We have used it on 400 patients at NIMHANS in the last four years,” he added.