A survey of awareness of diagnosis and treatment of rare diseases among healthcare professionals and researchers in India

Rare diseases (RDs) are those that affect a small fraction of the total population. In India, where resources are scarce, the healthcare infrastructure and policy framework are focused on mitigating diseases that affect a large number of people. As a result, many cases of RDs remain unreported, undiagnosed, and untreated. To understand the current level of RD awareness among healthcare professionals (HCPs) and researchers, as they are key stakeholders in diagnosis, treatment, policy making, and drug development, we conducted a survey based on identification of an RD, time for diagnosis, treatment options, and relationship with family history and geographic location. The survey was divided into two parts, one for researchers and the other for healthcare professionals, each consisting of 22 questions. We observed that among all our respondents, 31% of researchers and 29% of HCPs did not know the time required for diagnosis of a rare disease they mentioned in the survey. They identified the importance of family history but failed to realize its association with geographic location. The results from the exploratory study can provide information for enabling larger studies to develop recommendations and policies that can improve awareness about RDs in healthcare communities.