Abstract for: No Dieses Orphan: Technology, Economics, and Policy for Providing Equitable Health Amidst Extreme Inequity
Despite massive incidence and healthcare burden, rare diseases such as rare cancers and auto-immune conditions have thus far been outside the purview of healthcare policy in most developing nations. In India, where this work is focused, going by global population averages and the consanguinity in India, it is estimated that there are approximately 70 million children and adults affected by some form of rare disease such as immunodeficiency, neuromuscular disorder, etc. Diagnosis of a rare disease takes an average of 7-8 years due to lack of robust diagnostics and access. 50% of children with a rare disease do not live beyond the age of 5. Families with rare diseases usually bear out-of-pocket expenses, which spirals them into a vicious circle of poverty. Thus, rare diseases today severely impact the quality of life as many patients do not get access to diagnostics, care and treatment. The focus of this work is to produce a system-level understanding of the current situation, including the technologies and the socio-economics of resource-constrained environment, that influences the three key elements that define the rare disease scenario in a country: (a) the total afflicted population (b) prevalence and (c) frequency of occurrence. The understanding from this exercise will complement a national level policy discussion about rare diseases and orphan drug underway in India.