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Context: 

The Delhi High Court has issued directions to improve the availability of “orphan drugs”, which are medications used to treat “rare diseases”. 

What are Rare Diseases?

Rare diseases are defined by the World Health Organization (WHO) as a serious, lifelong condition that affects 1 or fewer people in 1,000.

Global burden of Rare Diseases

According to The landscape for rare diseases in 2024 report by Lancet Global Health: 

More than 7000 types of rare disease are in existence globally.

To date, approximately 300 million people live with rare diseases.

Around 80% of rare diseases have a genetic cause and almost 70% of which present in childhood.

About 95% of rare diseases lack approved treatments.

The average time for an accurate diagnosis is 4·8 years; and about 30% of children with a rare disease die before age 5 years. 

Categories of rare diseases in India

Based on the type and complexity of available treatments, rare diseases in India are divided into three types.

Group 1 comprises illnesses that can be cured with a single treatment. 

Group 2 disorders necessitate permanent or long-term care, which is comparatively less expensive and has proven to be beneficial; however, patients must undergo routine examinations. 

Although there are effective therapies for group 3 disorders, they are costly and may require lifelong care. Choosing the appropriate recipients for these medicines presents difficulties.

Status of India's Rare Disease 

In India, about 55 illnesses are categorized as rare diseases, such as Gaucher's disease, Lysosomal Storage Disorders (LSDs), and specific types of muscular dystrophy.  

Other uncommon illnesses that can be discovered in India include Whipple's disease, Gaucher's disease, Mucopolysaccharidosis type 1, and spinal muscular atrophy.

With more than 450 diseases discovered, India is responsible for one-third of the occurrence of rare diseases worldwide. 

14,472 rare disease patients nationwide are included in the National Registry for Rare and Other Inherited Disorders (NRROID), which was established by the Indian Council of Medical Research (ICMR).

Challenges in tackling the rare diseases

Availability of therapies 

Therapies are available for less than 5% of rare diseases, leading to less than 1 in 10 patients receiving disease-specific care. 

Expensive treatment 

Existing treatments are often very expensive. As per WHO, the average cost of treating a rare disease patient in the US is $32,000 per year, but can be over $100,000 in one third of cases.

Accessibility issues

While the Centre provides financial assistance to various Centres of Excellence (CoE) for treatment, there are challenges in accessing funds.

Delays in decision making

Delays and red tape in decision making is a big problem. AIIMS and other CoEs import the drugs through distributors for patients, and the delay in US and other countries’ regulators in the approval process  impacts treatment.

Cost of orphan drugs

Many rare disease treatments and medications are patented, which drives up their cost. 

Pharmaceutical companies frequently find it unprofitable to produce orphan pharmaceuticals due to their small market and high development expenses, which drives up pricing.

Prices may be lowered by developing and producing these medications in India, but the government will need to provide businesses with incentives like tax exemptions.

Patients who import medications for uncommon diseases are exempt from customs duties; however, businesses that import these medications into India are still required to pay 11% customs duty and 12% GST. 

Note:

Under the Patents Act of 1970, the government may let a third party produce rare disease therapies or medications in the absence of existing ones in exchange for a royalty to the patent holder. 

The government has  also the power to acquire patents to ensure the availability of medicines if the patent holder does not provide them. 

Government Initiatives

NATIONAL POLICY FOR RARE DISEASES 2021

The National Policy for Rare Diseases (NPRD) was introduced in 2021 and offers patients undergoing treatment at a designated CoE financial aid of up to Rs 50 lakh. 

The Institute of Postgraduate Medical Education and Research at Kolkata's SSKM Hospital, PGIMER in Chandigarh, and AIIMS in Delhi are among the CoEs.

Enhancing research capacity and technical innovation in the pharmaceutical and medical technology sectors requires the establishment of Centers of Excellence across several National Institutes of Pharmaceutical Education & Research (NIPERs).

In order to jointly address important issues and develop healthcare solutions, each CoE will focus on a distinct field of study.

Health Minister's Discretionary Grants (HMDG) 

The Health Minister's Discretionary Grant (HMDG) is a scheme that provides financial assistance to poor patients for treatment of life-threatening diseases in government hospitals. This includes rare diseases covered under the Rashtriya Arogya Nidhi (RAN).

Only those having annual family income up to Rs. 1.25,000/- and below are eligible for financial assistance from the Health Minister's Discretionary Grant (HMDG). 

Under this scheme, Financial assistance is provided towards treatment in Government hospitals including super specialty Government hospitals / institutes.

National Registry for Rare Diseases

ICMR National Registry for Rare and other Inherited disorders (NRROID) was initiated in November 2019 in collaboration with AIIMS, New Delhi to collect useful data on demography, phenotype, natural history, evolution and outcomes of specific diseases with/ without treatment.

National Rare Diseases Committee under initiatives. 

The National Rare Diseases Committee (NRC) is responsible for implementing the National Policy for Rare Diseases (NPRD).

It is a five-member panel who will work together to address the challenges faced by patients with rare diseases.

Read more about the policy here

NATIONAL POLICY FOR RARE DISEASES 2021

Digital Portal for Crowdfunding & Voluntary Donations

In 2022, the Health Ministry launched a Digital Portal for Crowdfunding & Voluntary Donations that included details about patients and their rare diseases, treatment costs, and the CoEs' bank accounts. 

The CoE and patient therapies that donors want to fund are up to them. 

With permission from its governing body, each CoE also maintains its own Rare Disease Fund.

Support  to CoEs

Up till the current fiscal year, CoEs had been granted Rs 24 crore in funding to treat patients with uncommon diseases. 

2021–2022; 2022–2023; and 2023–2024 saw the release of Rs 3.15 crore, Rs 34.99 crore, and Rs 74 crore, respectively. 

A total of Rs 35 crore has been made available for the purchase of equipment that will enhance patient care services.

Support to NIDAN Kendras (National Inherited Diseases Administration Kendras)

The National Policy on rare diseases supports  the existing network of NIDAN Kendras (National Inherited Diseases Administration Kendras) which are diagnostic laboratories for genetic testing of rare diseases.

Way Ahead

There isn’t enough research and development in the field of rare diseases. There is a need to negotiate with pharma companies and boosting domestic efforts could help lower costs of treatment.

The government should lower taxes on commercially available medications in an effort to lower the cost of rare disease medications. For personal use, the government may also exempt imported medications from GST and customs duties.

The Comprehensive Rare Disease Care (CRDC) concept, which attempts to close the gap between patients and families impacted by genetic etiology (gene abnormalities), should be put into practice by the government. A technical and administrative road plan for hospitals is established by the CRDC concept.

A centralized laboratory for rare disease detection and a national registry should be established by the Union Government.

Central government should formulate a standard definition of rare diseases, enhance  budgetary outlays, dedicate funding for drug development and therapy, and augment the number of CoEs and also ensure better coordination and responsible utilisation of funds.

Important articles for reference

Tax exemptions on rare disease drugs

Comprehensive Rare Disease Care (CRDC) model

Sources:

INDIAN EXPRESS

HINDU

NIH

PRACTICE QUESTION Q.Addressing the challenges surrounding the rare diseases is important to achieve the vision of ‘Health for All’ in India. Critically analyse. (250 words)