Could you walk us through the journey of developing the CNS Tumor Methylation Classifier? What were the biggest scientific and operational challenges, and how did you ensure validation and global benchmarking?
In any cancer, significant changes occur in the DNA of the affected cells. One of the most important alterations is DNA methylation, which is highly specific to each cancer type. These methylation patterns are like unique signatures—for instance, breast cancers display a different profile from brain tumors. By studying these patterns, we can not only identify the type of cancer but also detect it at earlier stages than current methods allow.
Over the last 6–7 years, research groups in the US and Germany have extensively studied methylation in brain tumors because of their heterogeneity—there are more than 120 subtypes, each requiring distinct treatment approaches. Recognising this, MedGenome optimised and validated the wet lab workflows and bioinformatics pipelines in India. We partnered with Heidelberg Epignostix team in Germany, leveraging their reference data models, but we are now developing an India-specific model, which we expect to launch within a year. This will ensure even greater accuracy for our patient population.
One major challenge has been limited funding and incentives for such high-end research in India, despite the heavy patient burden here. Nevertheless, we’ve made significant progress, and today, this test offers nearly 90 per cent accuracy, outperforming conventional histopathology in 6–10 per cent of ambiguous cases. Importantly, this is the first-of-its-kind test in India and South Asia.
Brain tumour diagnosis is often considered one of the most critical and complex areas in oncology. From your perspective, what challenges do doctors face, and what limitations of current diagnostics does this test address?
Brain tumors are highly heterogeneous. Pediatric gliomas, adult gliomas, astrocytomas, meningiomas—all differ in prognosis and treatment. Conventional histopathology sometimes struggles to precisely classify them, which is critical for determining the aggressiveness of treatment.
Our classifier analyses methylation patterns and can distinguish among more than 90 brain and CNS tumor types. It does not replace histopathology but complements it, helping neuro-oncologists resolve difficult or ambiguous cases. This directly translates into more accurate treatment decisions and better patient outcomes.
Why is DNA methylation emerging as such a powerful tool in classifying complex tumors?
Every tumor carries a unique methylation “signature.” By decoding these signatures, we gain deeper biological insights, which can then guide treatment strategies. While CNS tumors are a starting point, this approach is rapidly expanding. In the next 3–5 years, methylation-based tools will likely play a major role in early cancer detection including hard-to-detect cancers like pancreatic and ovarian at stages where current methods fall short.
Could you share an example of how this test has impacted patient care?
There have already been several cases where ambiguous brain tumor samples, difficult to classify using histopathology alone, were precisely identified through our methylation classifier. This has enabled clinicians to tailor therapies more effectively. For example, in certain pediatric cases, what was initially thought to be an aggressive tumor turned out to be a subtype with a much better prognosis allowing doctors to avoid unnecessary aggressive treatment.
The shift from a “one-size-fits-all” approach to more personalized treatment in oncology is gaining momentum. How is this transformation unfolding in India?
Ten years ago, personalised medicine was seen as futuristic. Today, it is widely embraced. Precision diagnostics and targeted therapies have already improved survival outcomes by 40–50 per cent in several cancers. In India too, clinicians are increasingly relying on molecular and genomic insights to guide treatment, and patients are benefiting from more effective and less toxic therapies.
Beyond the CNS classifier, what other in-house solutions is MedGenome developing for advanced cancer diagnosis?
We are working on early cancer screening solutions using methylation-based blood tests. Our focus is on detecting multiple cancers such as breast, ovarian, colorectal, cholangiocarcinoma, and head and neck cancers at earlier stages. Clinical trials are underway at 7–8 hospitals in India. We are also building an India-centric data model for early detection.
How do you see the role of genomics evolving in mainstream cancer care over the next 5–10 years?
Genomics is already integral to cancer management. In leukemia, for instance, genetic profiling is essential for treatment. Going forward, two parallel shifts will occur:
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Treatment and diagnosis: Broader adoption of genomic and methylation tests as standard of care, providing more accurate classifications and treatment pathways.
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Prevention and screening: High-risk groups—such as individuals with family history, smokers, or those above 50—will increasingly undergo preventive screening through advanced molecular tests.
Costs, though currently high (Rs 30,000 for our test vs Rs 1 lakh just five years ago), will continue to fall with scale and technological advancements, making genomic testing more accessible to patients in India.
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