Context:

• Thirty years passed since the Supreme Court determined that the right to health and medical care constitutes a basic right under Article 21 of the Constitution. Article 41 of the Directive Principles of State Policy mandates governmental support in instances of illness and disability.
• Nevertheless, the Union Ministry of Health and Family Welfare (MoHFW) inadequately addresses the treatment of uncommon diseases, failing to uphold this fundamental right.
• A response in Parliament indicates that 13,479 patients have enrolled in the National Registry for Rare and Other Inherited Disorders.

Rare Diseases: A Comprehensive Overview

Definition and Classification

• A rare disease is a debilitating, lifelong disorder affecting a small percentage of the population.
• There is no universally accepted definition of rare diseases.
• The World Health Organization (WHO) defines a rare disease as one with a prevalence of 1 or fewer per 1,000 individuals.
• In India, a condition is rare if it affects fewer than 100 patients per 100,000 people.

Types of Rare Diseases

Rare diseases encompass a wide spectrum of conditions, including:

• Genetic disorders (which account for 70–80% of rare diseases)

• Rare cancers

• Tropical diseases

• Degenerative and congenital disorders

Due to their genetic nature, many rare diseases are asymptomatic at early stages, making early detection difficult.

Global Context

• There are, worldwide, between 7,000 and 8,000 uncommon diseases.
• Less than 5% of these disorders, meanwhile, have suitable treatments or therapies.
• This emphasises the need for medical innovation and policy support since it results in great illness.

Rare Disease Burden in India

• India is significantly affected, accounting for one-third of the global rare disease incidence.
• Between 8 crore to 10 crore Indians (i.e., 80 to 100 million people) are estimated to suffer from one rare disease or another.
• Alarmingly, over 75% of patients are children, highlighting a pediatric public health challenge.
• More than 450 rare diseases have been identified in the Indian population.
• Though their numbers are rising, less than 5% of these disorders have any kind of specialised treatment available.

Policy and Legal Developments

• The Delhi High Court underlined the immediate need of the court and government to handle the situation and admitted the difficulties of managing rare diseases.
• Many patients still lack registration, which suggests notable policy blind spots and data gaps.

Need for Government Intervention

• Though a small portion of the population, uncommon disease sufferers are a reasonable target group for concentrated treatments.
• This makes both practical and necessary focused policy development and financial support for diagnosis, treatment, and research.

Challenges in Management

• The main difficulties are delayed diagnosis, ignorance, expensive treatments, and limited medical knowledge availability.
• Moreover, little financing and little research help to aggravate the problem in low- and middle-income nations like India.

National Policy for Rare Diseases (NPRD), 2021 – Key Features and Legal Framework

Definition and Categorisation of Rare Diseases:

• The National Policy for Rare Diseases, 2021, classifies rare diseases into three distinct groups:
• Group 1: Diseases that can be treated with one-time curative treatment such as organ transplantation or haematopoietic stem cell transplantation.
• Example: Tyrosinemia.
• Group 2: Conditions that require long-term or lifelong treatment with low-cost interventions.
• Example: Osteogenesis imperfecta.
• Group 3: Disorders for which definitive treatment exists, but is extremely expensive.
• Examples: Gaucher disease, Cystic fibrosis, Spinal muscular atrophy, and Duchenne muscular dystrophy.

National Consortium for R&D:

• For streamline research activities, improve knowledge, and enable the creation of indigenous treatment options, a National Consortium for Research and Development on Therapeutics for Rare Diseases.

Financial Assistance Provision:

• The policy provides financial support of up to ₹50 lakh per patient for treatment of rare diseases.
• Treatment support is available only through notified Centres of Excellence (CoEs).
• As of 2024, 63 rare diseases are covered under the policy.
• Patients seeking financial assistance must register at any CoE to become eligible.

Centres of Excellence (CoEs):

• CoEs serve as designated medical institutions equipped to diagnose, manage, and treat rare diseases under the NPRD framework.
• These centers play a critical role in both clinical management and implementation of the financial aid mechanism.

Constitutional and Legal Backing:

• The Supreme Court has read Article 21 - Right to Life and Personal Liberty as including an inherent component of health.
• Article 41 of the Directive Principles of State Policy emphasises the State's responsibilities in public health by guiding it to help in cases of illness and handicap.
• The National Policy for Rare Diseases, developed following court decisions, illustrates the State's legal responsibility to offer accessible healthcare.

Judicial Oversight and Monitoring:

• In May 2023, the Delhi High Court mandated creating a five-member committee to monitor NPRD implementation.
• This helps guarantee that patients' rights are safeguarded and the policy objectives are satisfactorily fulfilled.

Challenges in Implementation:

• Despite the policy framework and judicial backing, the Ministry of Health and Family Welfare (MoHFW) has been criticised for inadequate execution.
• Many rare disease patients continue to face barriers in to accessing timely treatment owing to bureaucratic delays, limited awareness, and resource constraints.

Challenges in Handling Rare Diseases in India

High Cost of Treatment

• Treating rare diseases such as Spinal Muscular Atrophy (SMA) can cost over ₹72 lakh annually, significantly exceeding the financial cap set by the National Policy for Rare Diseases (NPRD).
• The financial aid limit under NPRD is ₹50 lakh per patient, which is frequently inadequate to cover the full course of treatment.
• As a result, many patients exhaust their assigned help early, terminating life-saving treatments.

What is Spinal Muscular Atrophy? Muscle weakness worsens with the onset of spinal muscular atrophy (SMA), a hereditary disorder. The five subtypes vary in severity and age at which symptoms first appear. While treatments and drugs can alleviate symptoms, SMA still has no known cure.

Insufficient Government Support

• The Ministry of Health and Family Welfare (MoHFW) has stated the lack of funds as a key reason for not extending financial support beyond the existing limit.
• In some cases, court interventions have directed the government to continue support. Still, such orders have been legally challenged by the ministry, notably in the Supreme Court, resulting in delays in patient relief.

Legal and Financial Challenges

• After depleting government aid, patients often resort to legal recourse, as observed in the case of Kerala High Court interventions for the continued treatment of SMA patients.
• However, the ministry’s appeal in the Supreme Court has led to an interim stay on High Court orders, highlighting the tension between legal mandates and policy limitations.

Patent Barriers to Local Drug Production

• Local manufacture of important medications as tri kafta (for cystic fibrosis) and risdiplam (used in SMA) is seriously hampered by patent monopolies.
• Many times, patent holders use their monopoly to control price and distribution, neglecting the marketing of these pharmaceuticals in India.
• This limits affordability and access, especially in lower-income environments.

Policy Recommendations and Production Capacity

• The NPRD mandates collaboration between MoHFW and related departments to facilitate indigenous production of rare disease medications.
• Domestic manufacturing, as in generic drug versions, can reduce treatment costs by 90–95%.
• Government intervention is critical to overcome patent-related barriers and to enable equitable access to rare disease therapies.

Way Forward for Addressing Rare Diseases in India

• Define Rare Diseases Clearly: The central government must formulate a uniform and standardized definition of rare diseases to enable targeted policy implementation and data collection.
• Enhance Budgetary Allocations: There is an urgent need to increase the financial outlay for rare diseases, particularly in drug development, patient support, and institutional capacity building.
• Promote Local Drug Manufacturing: The Ministry of Health and Family Welfare (MoHFW) should collaborate with the Department of Pharmaceuticals and the Department for Promotion of Industry and Internal Trade (DPIIT) to boost domestic production of rare disease medications.
• Leverage the PLI Scheme: The government must incentivise domestic pharmaceutical firms under the Production Linked Incentive (PLI) scheme to manufacture affordable orphan drugs.
• Ease Regulatory Frameworks: Regulatory bodies must reduce clinical trial requirements in appropriate cases, and encourage the use of repurposed drugs, bulk imports, and generic alternatives to increase access.
• Address Patent Barriers: The state has to intervene legally to supersede patent monopolies, ensuring the provision of reasonably priced medication and preventing private sector access to essential medications.
• Expand Centres of Excellence (CoEs): The number of CoEs must be increased, and state governments should establish satellite centres to improve reach and care delivery.
• Revise Financial Support Caps: The cap under the National Policy for Rare Diseases (NPRD) must reflect the actual cost of treatment to ensure meaningful support.
• Ensure Ethical and Legal Responsibility: Authorities have moral and constitutional responsibility to ensure that no child is denied access to life-saving medications due to policy or financial constraints.
• Implement Social Assistance Programs: Targeted social assistance programs for families impacted by uncommon diseases must be started by states to help to lower socioeconomic differences in treatment availability.

Conclusion

The government must take quick action to remove the financial barriers that prevent patients from receiving life-saving therapies. Local medication production, financial allocation revisions, and legislative reforms are critical steps towards making rare disease therapies more accessible and cheap.

Practice Questions: Q.Analyse the regulatory and policy environment in India regarding rare diseases. In this area, how can India strike a balance between accessibility, affordability, and innovation?