Monday, May 25


When a 53-year-old industrialist from Gurugram walked into the cardiology outpatient department at a leading Pune hospital last month, his complaint was familiar: nine months of stubbornly elevated homocysteine, despite escalating doses of folic acid. What was unusual was the document he carried with him: a sixty-page genetic report that, his consulting cardiologist later said, ‘changed the conversation entirely’; once he had found, somewhere around its midpoint, the one variant that mattered.The report flagged a homozygous variant in the MTHFR gene. The patient’s body could not efficiently convert folic acid into methylfolate, the biologically active form it needed. He was switched to methylfolate. Within three months, his homocysteine was within normal range for the first time in over a year.It is a scenario being repeated across cities and specialities, more often than the diagnostic establishment publicly acknowledges. Pharmacogenomic testing — which examines how a patient’s genes affect their response to medication — is moving from the academic literature into mainstream Indian clinical practice. Cardiologists, oncologists and psychiatrists at hospitals including AIIMS, Medanta, Fortis and Apollo have begun ordering such tests for high-stakes treatment decisions, though it remains far from routine.“The most clinically actionable variant is CYP2C19,” said a senior interventional cardiologist at a private Delhi tertiary hospital, who asked not to be named because his institution has not yet formally adopted pharmacogenomic testing. “It determines whether a patient can metabolise clopidogrel into its active form. A poor metaboliser is getting essentially no benefit from the drug we prescribed after their stent. They are at materially higher risk of a second event.”The concern is grounded in data. But despite the evidence, pharmacogenomic testing is not part of routine clinical practice in India. The barriers are threefold: cost, awareness, and turnaround. Standalone panels cost ₹15,000 to ₹35,000; whole-genome sequencing pushes the cost above ₹50,000. Most patients pay out of pocket.Mira One, a new integrated panel from Pune-based PreventiveHealth.ai with GenePath Diagnostics, attempts to close the awareness gap and a readability one by bundling blood markers, a pharmacogenomic panel covering 200+ commonly prescribed medications, and whole-genome sequencing into a single investigation, then condensing the results into a four-page summary a physician can act on in under two minutes. That is a pointed departure from the sixty-plus-page reports patients increasingly arrive with, which can take a clinician the better part of a consultation to parse. The company describes the test as ‘once-in-a-lifetime’: genetic information does not change.“We’ve been waiting for a test that doesn’t make patients choose between blood work, drug response and genetic predisposition,” said Dr Rashida Melinkeri, Clinical Program Director at PreventiveHealth.ai. “Three separate tests mean three separate visits, three separate interpretations. The clinical signal gets lost.”The Indian genomic testing market is now valued at USD 550 million and growing at roughly 18% annually. Reliance’s entry in December 2025 was widely read as a signal that the category is moving from early-adopter to mainstream.For patients, the practical question is when such a test adds clinical value. Clinicians pointed to four scenarios: those on chronic medication that is not working; those with a strong family history of cardiovascular disease or cancer; women with a family history of breast or ovarian cancer; and individuals planning long-term statin, antihypertensive or antidepressant therapy.“Used in the right patient, at the right time, this is some of the most valuable clinical information a physician can have,” said the Delhi cardiologist. “Used as a longevity novelty, it is expensive entertainment. The difference is whether the patient and the physician sit down together and decide what to do with the result.”The conversation, increasingly, is one Indian patients are willing to have. They are arriving at consultations with genetic reports already in hand. The harder question is no longer whether the data exists; rather, it is whether it can be put in front of a physician in a form they can act on in the minutes a consultation actually allows.



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