In India, nearly 96 million people live with a rare disease, yet their daily struggles for diagnosis and treatment often go unnoticed by the broader healthcare system. To understand why this happens and how to fix it, a team of researchers from Indian health institutes has mapped out who holds the power, knowledge, and interest in the country's rare disease policy.
The study, which included researchers from DST Centre for Policy Research - Indian Institute of Science, Institute of Public Health and Sree Chitra Institute for Medical Sciences and Technology, shows a highly unequal landscape. While patient advocacy organisations, high-level policymakers, and a small pool of specialist doctors are deeply engaged, general healthcare workers lack the vital knowledge needed to help patients. This recent study is crucial for turning India’s 2021 National Policy for Rare Diseases from a written document into real-world action.
To better understand the system, the team used a public health mapping technique to study human networks and influence. They conducted in-depth interviews with 33 key players across the rare disease ecosystem. These included doctors, patient advocacy groups, think tanks, pharmaceutical companies, and government officials. To fill in the gaps for powerful groups that did not respond to interview requests, such as certain government ministries and multinational pharmaceutical companies, the researchers turned to the news. They reviewed hundreds of media articles published between 2017 and 2020 to gauge the public actions of these groups.
After gathering this information, the researchers scored each group on four characteristics: their knowledge of rare diseases, their interest in policy, their power to make changes, and whether they supported or opposed current policies. Using a statistical tool called Principal Component Analysis, they plotted these groups onto a graph to visually measure their overall influence and engagement, revealing who truly steers the ship in Indian rare diseases healthcare.
The study identified massive challenges in the current system. Patients face a lack of approved treatments, incredibly high medical costs, delayed diagnoses due to poor physician awareness, and societal stigma. To fix the system, the researchers concluded that two major steps are needed. First, everyday doctors and frontline health workers urgently need targeted training to help them recognise and understand rare diseases. Second, the government needs to create a formal mechanism to include highly engaged but less powerful groups, especially patient representatives and researchers, in the policy-making process, so that healthcare rules reflect patients' real-world needs.
This approach represents the first time researchers have comprehensively mapped the entire rare disease network in India. It gives a complete, bird's-eye view of how different groups interact, highlighting the stark contrast between highly engaged specialists and the completely disconnected general healthcare workforce. However, the researchers note that a significant limitation was the lack of direct participation by some government and corporate figures, which forced the team to rely on media reports for these groups. Since newspapers often focus on big successes or dramatic failures, this media data could carry a slight editorial bias. Furthermore, the number of people interviewed in each category was relatively small, meaning the views captured might not represent every doctor or patient in the country.
Despite these limitations, this research offers a path to understanding the knowledge gaps, specifically among general doctors and allied health professionals such as speech therapists and genetic counsellors. Expanding awareness beyond a handful of specialists in major cities means that everyday citizens living in remote or rural areas will finally have a fighting chance at receiving a correct diagnosis and life-saving treatments. Ultimately, by highlighting the need to give smaller patient groups and frontline workers a seat at the table, this mapping exercise paves the way for a more inclusive, fair, and effective healthcare system for millions of vulnerable patients.
