Bridging epidemiological gaps in rare diseases: Overcoming systemic and socio-economic challenges through integrated solutions

Rare diseases collectively affect over 300 million individuals globally, yet their epidemiology remains inadequately characterised, particularly in low- and middle-income countries. In India, epidemiological gaps arise from fragmented data systems, diagnostic odyssey, and limited integration of clinical and genomic information. While initiatives such as the National Policy for Rare Diseases 2021 have improved awareness and infrastructure, comprehensive surveillance remains limited. Concurrently, advances in genomics, including the Genome India Project, and the expansion of clinical genetics services provide new opportunities to strengthen epidemiological systems. This viewpoint highlights key challenges and proposes practical, scalable solutions, including federated registries, integration with digital health systems, and improved clinician-technology alignment within resource constraints. A balanced approach combining clinical, genomic, and systems-level strategies is essential for developing robust rare disease epidemiology in India. These findings underscore the need for clinically grounded, ethically governed, and economically feasible epidemiological frameworks.