National Policy for Rare Diseases 2021

Ministry of Health and Family Welfare

Context:

Caregivers to patients with ‘rare diseases’ and affiliated organizations are dissatisfied with the National Policy for Rare Diseases, 2021.

What’s the issue?

1. The policy specifies increasing the government support for treating patients with a ‘rare disease’— from ₹15 lakh to ₹20 lakh. But, caregivers say this doesn’t reflect actual costs of treatment.
2. Advocacy groups, however, have expressed concerns about the lack of funding support in the policy for patients diagnosed with life-threatening rare, genetic disorders.

About Policy:

The government notified the National Policy for Treatment of Rare Diseases, 2021 recently. Although the policy was formulated in 2017, it was not notified until now.

• It is proposed to have a national registry for a database of rare diseases.
• The document classifies rare diseases into three groups:

• Group 1 has disorders controllable by one-time curative treatment, including osteopetrosis and Fanconi anaemia.
• Group 2 has diseases requiring long-term or lifelong treatment with a relatively lower cost of treatment and benefit has been documented in literature, including galactosemia, severe food protein allergy, and homocystinuria.
• Group 3 has diseases for which definitive treatment is available, but challenges are to make optimal patient selection for benefit, and very high cost and lifelong therapy, covering diseases such as spinal muscular atrophy (SMA), Pompe disease, and Hunter syndrome.
• The government has decided to provide Rs.20 lakh to poor patients and patients covered under the Ayushman Bharat for Group 1 diseases.
• For diseases classified under Group 3, which require life-long expensive treatments, the government would create a digital platform to bring together Centres for Excellence, patients undergoing treatment and corporate donors or prospective voluntary individuals who could help fund treatment.
  • The government has identified eight Centres of Excellence for the treatment of rare diseases.
• The state governments would be asked to undertake treatment of diseases covered under Group 2, which largely include disorders managed with special dietary formulae or food for special medical purposes (FSMP) and disorders that are manageable to other forms of therapy.

One of the criticisms of the National Policy for Treatment of Rare Diseases, 2021 is that Rs.20 lakh seems to be quite less and does not cover the actual costs of treatment, according to many caregivers of patients with rare diseases. Another criticism is that more centres of excellence should be started to cater to the needs of people suffering from rare diseases.

What is a rare disease?

1. A rare disease, also referred to as an orphan disease, is any disease that affects a small percentage of the population.
2. Most rare diseases are genetic, and are present throughout a person’s entire life, even if symptoms do not immediately appear.

The commonly reported rare diseases, include:

Primary immunodeficiency disorders, Lysosomal storage disorders (Gaucher’s disease, Mucopolysaccharidoses, Pompe disease, fabry disease etc.) small molecule inborn errors of metabolism (Maple Syrup urine disease, organic acidemias, etc.), cystic fibrosis, osteogenesis imperfecta, certain forms of muscular dystrophies, and spinal muscular atrophy.

Rare Diseases in India

In India, there are 56-72 million people affected by rare diseases. 

• About 450 rare diseases have been recorded in India. Some of the common rare disease affecting people in India are auto-immune diseases, Gaucher’s disease, Haemophilia, Sickle Cell Anaemia, Thalassemia, Primary Immuno-deficiency in children, Lysosomal storage disorders such as Pompe disease, Cystic Fibrosis, Hirschsprung disease, certain kinds of muscular dystrophies, Hemangiomas, Kyasanur Forest disease, etc.
• Identification and treatment of rare diseases is a challenge because of the general lack of awareness. Also, the field is a complex and heterogeneous one and one where research is still in the nascent stage. For many rare diseases, there are no diagnostic tests and even if there are, they are largely unavailable.

Why are there so many rare diseases in India?

• According to some experts, there are higher incidences of rare diseases in India because of the practice of consanguineous marriages in some communities. The most common rare diseases in India are Lysosomal Storage Disorders (LSD).
• Rare diseases make lives difficult not only because treatments are not defined for many of them, but also because of the fact that many of them cause a huge financial burden on patients’ families. On average, the cost of treatment is exorbitant ranging from Rs 40 lakh to 1.60 crore per year.

Source: The Hindu