India has joined a select group of nations with a comprehensive national framework for rare diseases, following the institutionalisation of the National Policy for Rare Diseases, 2021 — a milestone that builds on the initial recognition of rare diseases in the National Health Policy, 2017. The government highlighted these developments at a conference in New Delhi on Tuesday, 6 May 2025, where senior health officials outlined progress and challenges in rare disease management across the country.

Key Developments in the National Policy

Union Health Secretary Punya Salila Srivastava addressed the conference, stating that the core objective of the policy is to understand stakeholder challenges, encourage innovation, and generate new ideas for strengthening rare disease management. She noted that the policy is implemented through Centres of Excellence (CoEs) — premier tertiary hospitals designated as the backbone of clinical care for rare disease patients.

The number of CoEs has grown from 8 to 15 over the years, with two CoEs now operational in north-east India, significantly broadening the national architecture for specialised care and patient support. This expansion is seen as a deliberate effort to extend equitable access beyond metropolitan centres.

Financial Support and Drug Access

Financial assistance under the policy has been progressively enhanced to ₹50 lakh per patient, enabling improved access to treatment for those suffering from identified rare diseases. Acknowledging the rising cost of therapies — many of which are imported and prohibitively expensive — the government has taken proactive steps to exempt life-saving rare disease drugs from basic customs duty, with further expansion of this exemption announced in the recent Union Budget. Srivastava also invited stakeholders to suggest additional drugs for consideration under such exemptions.

ICMR's Role and Indigenous Research

Dr Rajiv Bahl, Secretary of the Department of Health Research (DHR) and Director General of the Indian Council of Medical Research (ICMR), reflected on the significant progress made over the past three decades. He recalled that in the 1990s, identifying a patient with a suspected rare disease often led to a sense of helplessness, as diagnosis was extremely difficult and treatment options were virtually unavailable.

Dr Bahl underscored the need for India to develop its own context-specific model for diagnosis, treatment, and prevention of rare diseases, rather than relying solely on Western frameworks. He noted that ICMR is actively working to expand the range of tools available for managing rare diseases and advancing indigenous research and development of therapies. This push for homegrown solutions is particularly significant given that many rare diseases in India may have distinct genetic profiles compared to those prevalent in Western populations.

Strengthening Health Systems for Early Diagnosis

Dr Sunita Sharma, Director General of Health Services, emphasised the importance of strengthening health systems for early diagnosis and comprehensive management of rare diseases. She highlighted the need to integrate rare disease services across different levels of healthcare, ensuring timely referral and continuity of care through an efficient network of facilities. This comes amid growing recognition that delayed diagnosis remains one of the most critical barriers for rare disease patients in India, often leading to irreversible health consequences.

What Comes Next

With the CoE network now spanning 15 hospitals including facilities in the north-east, and financial assistance raised to ₹50 lakh, the government's framework is becoming more robust. The next phase is expected to focus on expanding indigenous diagnostic tools, broadening customs duty exemptions for therapies, and integrating rare disease care more deeply into primary and secondary healthcare networks. The trajectory suggests India's rare disease policy is shifting from awareness to active, systemic intervention.