World TB Day: Illumina & GenoScreen launch next generation sequencing innovation to eliminate TB in India

New Delhi: Illumina Inc., a global leader in DNA sequencing and array-based technologies, and GenoScreen, an innovative genomics company, have launched today a package combining Illumina products and the GenoScreen Deeplex® Myc-TB assay, a targeted next-generation sequencing (NGS) based test for the rapid and extensive detection of anti-TB drug resistance.

This will help advance the World Health Organization’s (WHO) strategy to end the global TB epidemic by 2035.

This latest in NGS innovation, is part of a partnership between Illumina and Genoscreen announced last year to accelerate progress to end TB worldwide. The partnership is expanding capabilities for countries most impacted by tuberculosis, including India, to more effectively detect and combat multidrug-resistant TB (MDR-TB).

With an incidence rate of 192 cases per 1,00,000 of population, Tuberculosis (TB) is a significant public health problem in India. According to the World Health Organization (WHO), India has the highest burden of TB in the world, accounting for approximately one-quarter of the global TB cases. Alarmingly, the findings of the latest National TB Prevalence Survey of India (2019–2021) showed that majority of the TB patients (64%) do not seek treatment because they are not aware of TB symptoms.

“Through our partnership, we will enable lower-income countries to confront the pervasive threat of TB and work toward eliminating it,” said Phil Febbo, chief medical officer of Illumina. “The COVID-19 pandemic response led to expanded NGS capacity around the world, so now institutions have the platforms needed to support testing for TB drug resistance and improve survival for patients with TB, the leading infectious disease killer prior to COVID.”

According to the WHO, TB is the first worldwide bacterial infectious killer, claiming over 1.5 million lives each year. And even though TB can be cured when appropriately treated, MDR-TB represents a global public health emergency. With an increase in drug resistance between 2020 and 2021, an estimated 450,000 people developed TB with rifampicin resistance (RR) or MDR, yet only 30% of these cases were detected and enrolled on MDR-TB treatment. Due to the COVID-19 pandemic in 2020, deaths from TB increased for the first time in a decade.

“As a world specialist in TB genomic solutions, we envision this partnership with Illumina as an accelerator for the global deployment of our Deeplex Myc-TB assay, especially for countries with the highest needs,” said André Tordeux, CEO of GenoScreen.

Standard culture-based testing methods currently incur turnaround times of up to two months, and conventional molecular assays are limited in identifying drug resistance. The combined use of the GenoScreen Deeplex Myc-TB assay and the Illumina NGS platforms allows much more rapid determination of extensive drug resistance profiles and TB strain types.

The Deeplex Myc-TB assay, developed and produced by GenoScreen since 2019, uses a culture-free approach to identify TB mycobacteria and more than 100 non-TB mycobacterial species, and to predict resistance to 15 antibiotics, in 24 to 48 hours—directly from primary respiratory samples. The Deeplex web application for automated analysis of the sequencing data enables users to easily interpret the results and best define next steps.

“The Deeplex Myc-TB kit is the most comprehensive commercial molecular test for detection of anti-TB-drug resistance available to date,” said Philip Supply, research director at the French National Centre for Scientific Research. “We are continually updating the technology to detect emerging resistance to the newest anti-TB drugs.”

Implementing NGS testing will also benefit national TB programs around the world by providing critical surveillance data about resistance to different anti-TB drugs—important information for high-burden countries to guide TB control strategies.