New metagenomic NGS-based diagnostic aims to improve accuracy and speed in identifying life-threatening bloodstream infections
Mumbai: MedGenome, a genomics-driven diagnostics company, has introduced MetaSeq, an advanced blood test designed to detect more than 1,400 clinically significant pathogens through a single diagnostic assay. The new test expands the company’s infectious disease testing portfolio and aims to enable faster and more accurate diagnosis of bloodstream infections.
MetaSeq is built on metagenomic next-generation sequencing (NGS) technology, which analyses microbial cell-free DNA (cfDNA) present in the bloodstream. This method allows simultaneous detection of multiple infectious agents—including bacteria, fungi, parasites, and DNA viruses—without requiring several separate diagnostic tests.
Addressing Challenges in Bloodstream Infection Diagnosis
Bloodstream infections remain among the most difficult conditions to diagnose in clinical practice. Conventional blood culture methods often take several days to produce results and may return false-negative findings, especially in patients who have already started antibiotic therapy.
MetaSeq addresses these limitations by directly detecting microbial DNA from blood samples, enabling the identification of pathogens even when traditional diagnostic techniques fail. The test typically delivers results in approximately five days and has demonstrated higher sensitivity compared to standard blood culture tests, allowing clinicians to make earlier and more informed treatment decisions.
Broader Clinical Applications
The MetaSeq test has received CE-IVD validation for peripheral blood samples. In addition, it can be applied to other clinical specimen types such as cerebrospinal fluid, synovial fluid, and ascitic fluid, expanding its potential use across a range of complex infection scenarios.
This capability is particularly valuable for critically ill and immunocompromised patients, where rapid identification of infectious pathogens is crucial for timely and targeted treatment.
Leadership Perspective
Commenting on the launch, Dr. Vedam Ramprasad, CEO of MedGenome Labs Ltd, said that diagnosing bloodstream infections often depends on symptom-based clinical judgement, which forces physicians to make treatment decisions based on probability rather than precise pathogen identification.
He noted that MetaSeq aims to change this approach by providing earlier and more accurate diagnostic insights, enabling targeted therapy, reducing unnecessary testing, and ultimately improving patient outcomes.
Global Technology Collaboration
MetaSeq was developed in collaboration with Noscendo, a Germany-based company specialising in software-driven pathogen diagnostics. The test is powered by Noscendo’s DISQVER platform, which uses advanced bioinformatics algorithms to identify pathogens with high precision.
The DISQVER® platform is recognised by the World Health Organization (WHO) as the only clinically approved NGS platform specifically designed for diagnosing invasive fungal diseases.
Andreas Käpplein, CEO of Noscendo, stated that the collaboration could significantly strengthen infection diagnostics across South Asia by enabling faster and more accurate detection of pathogens, which is critical in managing life-threatening infections.