Rare Disease

Rare diseases are a group of health conditions that are of low prevalence and affect a small number of people compared with other prevalent diseases in the general population. Globally, it is estimated that there are around 6000 to 8000 rare diseases, with new rare diseases being reported in the medical literature regularly.

• Despite their low prevalence, collectively rare diseases affect a considerable proportion of the population in any country, which is between 6% and 8%. In this article, we will discuss the complexities of rare diseases, the challenges they pose to public health systems, and the need for a policy to tackle rare diseases in India.

Prevalence and Definition of Rare Diseases

• There is no universally accepted definition of a rare disease. Different countries define rare diseases differently. However, the common considerations in the definitions are primarily the disease’s prevalence and, to varying extent, its severity and the existence of alternative therapeutic options. In India, about 450 rare diseases have been recorded, and it is important for the country to arrive at its own definition suited to its need, based on a careful consideration of prevalence, disease severity, and study-ability.

Challenges Posed by Rare Diseases

• The field of rare diseases is complex, heterogeneous, continuously evolving, and suffers from a deficit of medical and scientific knowledge. Globally, as well as in India, rare diseases pose a significant challenge to public health systems in terms of difficulty in collecting epidemiological data, which in turn impedes arriving at the burden of diseases and cost estimations, difficulty in research and development, making correct and timely diagnosis, complex tertiary-level management involving long-term care and rehabilitation, and unavailability and prohibitive cost of treatment.
• Rare diseases constitute a significant economic burden independent of a country’s size and demographics, arising from increased healthcare spending. As resources are limited, there is a macroeconomic allocation dilemma due to the opportunity cost of funding rare disease treatment: on one hand, health problems of a much larger number of persons can be addressed by allocating a relatively smaller amount, on the other, much greater resources will be required for addressing health problems of a relatively smaller number of persons.

Impact on Children and Families

• Rare diseases disproportionately impact children; 80% of rare diseases are genetic in origin. 50% of new cases are in children and are responsible for 35% of deaths before the age of 1 year, 10% between the ages of 1 and 5 years, and 12% between 5 and 15 years.
• The impact on families is often catastrophic in terms of emotional as well as financial drain, as the cost of treatment is prohibitively high. As a result, parents of children suffering from rare diseases, whose treatment cost was not being covered by insurance or otherwise not being reimbursed, filed writ petitions in the Delhi High Court, seeking directions that the government provide the treatment for free.

The Need for a Policy

• Rare diseases are, in most cases, serious, chronic, debilitating and life-threatening illnesses, often requiring long-term and specialized treatments/management. In addition, they often result in some form of handicap, sometimes extremely severe.
• For these reasons, a policy is necessary to devise a multi-pronged and multi-sectoral approach to build India’s capacity to tackle rare diseases comprehensively, in areas of epidemiological data for estimating burden, arriving at a definition and for cost estimation of treatment; research and development for treatment and diagnostic modalities, including the use of technology; and access to treatment, including affordability and reimbursement. The National Health Policy 2017 also underscores the need for management of rare/orphan diseases.

Rare diseases pose significant challenges to public health systems globally and in India. The impact on children and families is often catastrophic, both emotionally and financially. The lack of understanding and knowledge about rare diseases, the lack of effective treatment and the high costs associated with them are just some of the many challenges faced by those affected by rare diseases. To address these challenges, a policy is needed to devise a multi-pronged and multi-sectoral approach to tackle rare diseases in India. This approach should cover areas such as epidemiological data collection, research and development, access to treatment, and affordability and reimbursement. Only with a comprehensive policy in place can we hope to effectively address the challenges faced by those affected by rare diseases and improve their lives.