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29 giugno 2026
TENDENZE A LIVELLO DI TECNOLOGIA E MALATTIE
Articolo
Cracking the Code of Modern Mycobacterial Diagnostic Science
When Dr. Suzan Pas first began exploring Next Generation Sequencing (NGS) for mycobacterial diagnostics at Radboud University Medical Centre, the mission was clear but daunting: replace slow, fragmented testing workflows with a unified, fast, and information rich solution. Mycobacterial diseases, especially tuberculosis (caused by Mycobacterium tuberculosis) and the increasingly complex world of non-tuberculous mycobacteria (NTM), demand speed, accuracy, and nuance. But traditional culture methods often take weeks, delaying critical treatment decisions.
The Challenge: A Diagnostic Puzzle
For years, microbiology labs have wrestled with the limitations of culture and antibiotic susceptibility testing. Each step required different technologies, different specialists, and too much time. Meanwhile, patients waited, sometimes with drug-resistant infections that every day became harder to treat.
As Dr. Suzan Pas explains, mycobacterial diagnostics were overdue for a technological overhaul. The question was no longer whether to adopt NGS, but how to make it fast, reliable, and fit for routine clinical use.
Bringing NGS Into the Routine Workflow
Her team introduced Illumina NextSeq and Nanopore sequencing under ISO15189 standards, building an integrated workflow that could deliver species identification, resistance prediction, and outbreak analysis in just four to eleven days; a major improvement compared with traditional methods.
To support this system, they developed a two-tier bioinformatics structure: a small, rapid database that enabled quick species identification, paired with a much broader database covering more than 230 species for deeper analysis. This combination preserved speed while ensuring diagnostic depth, and validation studies showed high reliability, particularly for detecting resistance markers such as those linked to Rifampicin.
Lessons from the Lab Floor
Implementing NGS revealed challenges that shaped the workflow as it exists today. The team quickly learned that sequencing depth alone was not enough to ensure quality, making unique read counts essential for accurate interpretation, especially when a species did not appear in the smaller reference database.
In other cases, low coverage obscured important resistance mutations, prompting routine checks across all known marker positions. And despite technological progress, certain cases, including mixed infections, rare species, or novel strains, still require expert led phylogenetic interpretation. Each of these experiences underscored the same lesson: precision microbiology relies not only on advanced technology but on the rigor and expertise applied behind the scenes.
Diagnostic Game Changer
Once refined, the workflow enabled capabilities previously out of reach, including detecting mixed infections, rare species, and subtle resistance markers. NGS didn’t just replace older tools; it expanded the diagnostic horizon.
For Dr. Suzan Pas and her team, the journey isn’t over. Next steps include validating Nanopore workflows for clinical use and refining quality control algorithms to further strengthen resistance detection and contamination control.
In her words, NGS is no longer an experimental addon; it is redefining what’s possible in mycobacterial diagnostics, collapsing timelines, enhancing precision, and opening the door to next generation public health surveillance.
IVD. In vitro Diagnostic Medical Device. Potrebbe non essere disponibile in alcuni Paesi. Il contenuto presentato in questa pagina è destinato a scopi informativi e formativi. Sebbene sia disponibile a livello globale, può riflettere pratiche cliniche o considerazioni sul sistema sanitario specifiche di una determinata regione.
1. Schildkraut, J. A., Coolen, J. P. M., Severin, H., Koenraad, E., Aalders, N., Melchers, W. J. G., Hoefsloot, W., Wertheim, H. F. L., & van Ingen, J. (2023). MGIT enriched shotgun metagenomics for routine identification of nontuberculous mycobacteria: A route to personalized health care. Journal of Clinical Microbiology, 61(3), e01318-22. https://doi.org/10.1128/jcm.01318-22
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