Rare diseases and their occurrence in India

The common denominator of rare diseases is the infrequency of their occurrence in the human population. Often debilitating lifelong disease or disorder condition with a prevalence of 1 or less, per 1000 populations is defined by the World Health Organization (WHO) as a rare disease.

As per an estimate, there are 7,000 known rare diseases with an estimated 300 million patients in the world; 70 million are in India.

According to the Organization for Rare Diseases India, these include inherited cancers, autoimmune disorders, congenital malformations, Hirschsprung’s disease, Gaucher disease, cystic fibrosis, muscular dystrophies and Lysosomal Storage Disorders (LSDs).

They disproportionately impact children: 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, the cost of treatment is prohibitively high.

Costs to help already-diagnosed patients might be in the range of ?80-?100 crore annually. If the Centre can extend the cost-sharing agreements that it has worked out with Kerala, Tamil Nadu and Karnataka, with other States too, its share of the annual costs will be halved.

D.K.Tempe Committee Report

The Committee considered the prohibitive costs of treatment and competing priorities Of public health and resource allocation; inadequate prevalence data; and still unravelling diagnostic and treatment landscape.
It suggested that the national policy should cover treatment in a phased manner, starting with rare genetic disorders, for which treatment good clinical outcome is available.
The policy could be Progressively revised with increased knowledge and clarity about epidemiological data, Diagnostic and treatment options, evidence on clinical outcomes, reduced cost of drugs, Etc.

Visit Aspire website for National Policy on Rare Diseases.

Source: The Hindu

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