Rare disease, also known as orphan diseases, affects a small percentage of the population, but is deep of health and economic effects.

In India, where estimated 70 million people suffer from rare diseases, medical policies are important in ensuring timely diagnosis, treatment access and research development. However, the country faces unique challenges including high treatment costs, limited awareness and regulatory gaps.

In India, a disease is considered rare if it affects less than 1 in 2,500 individuals. There are more than 7,000 known rare diseases, many of which are genetic and life-threatening. Lack of a comprehensive registry makes it difficult to determine the exact burden of these conditions.

Common rare diseases in India include Gauchar Disease, Duchene Muscular Dystrophy and Lysosomal Storage Disorder.

Challenges addressing rare diseases

Lack of awareness and diagnosis: Due to their low circulation, rare diseases often make uncontrolled or incorrect diagnosis, which delayed treatment and unnecessary complications.

Overlapping symptoms: Many rare diseases share overlapping symptoms, causing the diagnosis to become complicated and often delay. Symptoms such as chronic fatigue, muscle weakness, neurological loss, and gastrointestinal issues are common in many conditions, including mitochondrial disease, autoimmune disorder, and genetic syndrome.

For example, seizures can occur in both metabolism and neurological disorders, while joint hypermobility is seen in the echers-danlos syndrome and Marfan syndrome. This overlap often leads to an incorrect diagnosis, exposed to the extensive genetic testing, fully clinical evaluation, and the need for multi-kest care to correctly identify the underlying condition.

High treatment cost: Many rare diseases require lifelong treatment, special care and expensive drugs. The cost of drugs such as enzyme replacement therapy can be prohibitedly high.

Limited research and data availability: There is a lack of comprehensive epidemiology data on rare diseases in India, which makes it difficult to estimate their prevalence and allocate resources effectively.

Absence of indigenous drug development: Lack of financial incentives for pharmaceutical companies to develop treatment for rare diseases has led to limited availability of essential medicines as a result of lack of financial incentives.

Insurance and Financial Obstacles: Most health insurance policies in India do not cover rare disease treatment, leaving patients and their families to bear financial burden.

Infrastructure and expert availability: There are a limited number of special centers and trained medical professionals to diagnose and treat rare diseases in the country.

Policy initiative and solution

National Policy for Rare Diseases (NPRD) 2021

The Government of India started NPRD 2021 to provide financial assistance and improve access to treatment. The policy classifies rare diseases into three groups: which require people with one-time remedial treatment, lifetime remedies and research-based solutions. It also provides financial assistance of up to Rs 50 lakh under the National Aogya Nipi (RAN) scheme for some diseases.

Localized manufacturing and encouragement

To reduce the cost of orphan drugs, India is promoting domestic production. Incentives such as tax profit and subsidy are being introduced to encourage pharmaceutical companies to develop cheap treatment.

Extension of newborn screening programs

Early detection through newborn screening can greatly improve treatment results. Efforts are being made to include more rare diseases in the national newborn screening programs.

Research and strengthening public-private partnership

Cooperation between government agencies, educational institutions and private drug firms is important. The Indian Council of Medical Research (ICMR) aims to increase rare disease studies such as rare disease registry and partnership with global research institutes.

Ahead

India’s rare disease policy is developing, but there are challenges like strength, access and regulatory hurdles. Strengthening NPRD, increasing research funds, and increasing public-private cooperation are necessary steps.

By addressing these issues, India can improve health results for rare diseases and ensure similar access to life -saving treatments.