National Conference on Rare Diseases — New Delhi

Rare-disease policy is one of those areas where the headline sounds abstract, but the real issue is brutally concrete. A child goes years without a diagnosis. A family bounces between hospitals. A treatment exists, but the price is so high that “available” barely means usable. That is the backdrop for India’s two-day National Conference on Rare Diseases, which opened in New Delhi on May 5, with the Health Ministry using it to push early diagnosis, indigenous innovation, and tighter coordination between government, hospitals, researchers, industry, and patient groups. ### Why does this conference matter now? Because India is no longer at the stage of asking whether rare diseases deserve a national response. That part is settled. The harder phase is implementation — finding patients earlier, getting them to the right centres, and making treatment financially and physically reachable. The conference is basically a stocktake on whether the system built over the last few years is actually working on the ground. ### What is India’s current policy base? The anchor is the National Policy for Rare Diseases, launched in March 2021. It groups diseases by treatment profile and cost, includes 63 rare diseases, and provides financial support of up to Rs 50 lakh per patient for treatment at notified Centres of Excellence. By August 2024, the government said 1,118 patients had benefited under the policy. That is real progress — but it also shows how selective access still is in a country this large. ### What did officials emphasize this week? The message was pretty consistent: diagnose earlier, innovate locally, and use resources better. Health Secretary Punya Salila Srivastava framed rare diseases as a problem that needs sustained collaboration across stakeholders. Indian Council of Medical Research Director General Rajiv Bahl pushed for an India-specific model, with resource optimization and indigenous innovation rather than a straight copy of richer countries’ systems. ### Why is early diagnosis such a big deal? Because delay is its own form of harm. Many rare diseases are genetic, progressive, and easy to miss in primary care because each one affects very few people. That means families often spend years in a diagnostic maze. If the system catches cases earlier — through better clinician awareness, screening keeps showing up as the central theme rather than a side note. ### Why does domestic innovation keep coming up? Because imported therapies can be ruinously expensive. For some rare diseases, treatment costs run into crores of rupees, especially when lifelong therapy is involved. India has been trying to build local capacity in orphan drugs, diagnostics, and manufacturing so the country is not stuck with a model where policy promises access but supply economics make access impossible. The conference’s focus on indigenous innovation is really about closing that gap. ### Who needs to work together here? Basically everyone. Policymakers control funding and rules. Clinicians spot and manage cases. Researchers build evidence. Industry makes tests and therapies. Patient groups do something the system often cannot — they keep pressure on diagnosis, continuity of care, and lived reality. A rare-disease system breaks when any one of those links is weak, so the conference is trying to get them in the same room before the patient falls through the cracks. ### What is the real bottleneck now? Not awareness alone. The bottleneck is translation — turning a national policy into timely diagnosis, affordable treatment, and repeatable care pathways outside a handful of top centres. India has already built the outline of a rare-disease response. The next test is whether that outline becomes a working system. ### Bottom line? This week’s meeting in New Delhi underlined the problem. Now it has to make rare-disease care faster to find, cheaper to access, and less dependent on luck.