A rare disease is a debilitating lifelong disease or disorder that occurs infrequently in the human population. Examples include diseases in India like Haemophilia, Thalassemia, Sickle-cell Anaemia, Cystic Fibrosis, and others. While the WHO defines rare disease as one with a prevalence of 1 or less, per 1000 population, different countries coin their own definitions according to their respective disease prevalence, severity, and availability of treatment options.

 Why rare diseases are a concern

• New rare diseases (sometimes termed ‘orphan drugs’) and conditions are identified and reported regularly in the medical literature. However, since the patient pool is very small, there is often a lack of epidemiological data available, making research both difficult and costly. Further, as rare diseases do not constitute a significant market share, therapies are often not available or are prohibitively expensive. In India, there are between 7000 – 8000 rare diseases, but less than 5% have therapies available to treat them. Taken as a whole, rare diseases affect nearly 1/5th of India.
• The burden of haematological diseases is huge in India. Every year, over 10,000 children are born with thalassemia and over 7,000 cases are diagnosed with aplastic anaemia.
• According to Globocan 2020 (Global Cancer Observatory), the per year incidence of blood cancer is over 1,00,000, and over 20,000 new cases of childhood blood cancer are diagnosed every year, of which nearly 15,000 are leukaemia.
• With the growing awareness about haematological diseases and increased access to advanced treatment, blood stem cell transplant plays an important role in the treatment of such disorders.
• However, despite India bearing a heavy burden of haematological diseases, Indian stem cell donors only form about 0.04 per cent of the total listed unrelated donors globally.

 India’s Rare diseases policy

India has introduced the National Policy for Rare Diseases, 2021 (NPRD), which aims to lower the cost of treatment of rare diseases.

The policy has categorised rare diseases into three groups:
Group 1: Disorders amenable to one-time curative treatment.

Group 2: Those requiring long term or lifelong treatment.

Group 3: Diseases for which definitive treatment is available but challenges are to make optimal patient selection for benefit, very high cost and lifelong therapy.

How it becomes a lifeline

• Financial :By committing to provide Rs 20 lakh to cover the one-time treatment cost of diseases falling under Group 1 through the Rashtriya Arogya Nidhi, the NPRD attempts to cover almost 40 per cent of the population that is eligible under the Pradhan Mantri Jan Arogya Yojana.
• National Registry: To ensure that enough data and thorough definitions of rare diseases are available for individuals interested in research and development, a national hospital-based registry will be established.
• Centres of Excellence: The strategy aims to strengthen tertiary health care facilities for the prevention and treatment of rare illnesses by designating eight health facilities as ‘Centres of Excellence,’ with one-time financial support of up to Rs. 5 crore for diagnostic facility upgrades.
• Alternative funding: includes building up a digital platform for individual and corporate contributors to voluntarily contribute to the treatment costs of individuals with rare diseases.

Issues

• Lack of Long-Term Funding: Patients with Group 3 diseases, unlike those in Groups 1 and 2, require long-term therapeutic support.
• In the lack of a long-term financing source for Group 3 patients, the lives of all patients, most of whom are children, are now in jeopardy and at the mercy of crowdsourcing.

• Drug Manufacturing Shortages: Where pharmaceuticals are accessible, they are excessively expensive, putting a tremendous drain on resources. Currently, just a few pharmaceutical businesses throughout the world manufacture treatments for uncommon diseases, and India has no domestic producers other than those who provide medical-grade food for those with metabolic problems.

Way forward

• For the rare disease policy to reach the next level, it must include stakeholders who can fill critical gaps. For instance, an organisation like DKMS BMST Foundation India, with its registry of more than 50,000 donors, can be instrumental in private-public partnerships proposed by the government.
• More consideration for Group 3 patients
• India can follow the model of USA, who used their Orphan Drugs Act, which incentivizes industry through market exclusivity, grants to researchers, and tax incentives on expenditure made during drug evaluation for their therapeutic potentials to encourage the discovery of drugs for rare diseases.

In a country like India, where the incidence of blood disorders is high, NPRD and organisations aligned with the vision of the policy should come together to provide healthcare to patients who are often unable to access treatment due to a lack of funds or knowledge. The creation of a conducive ecosystem where multi-sectoral partnerships work towards reducing the lag between policy and practice can lead to more people accessing affordable, lifesaving treatment.

Reference:

https://indianexpress.com/article/opinion/columns/another-chance-at-life-7611890/

How to structure:

1. Give an intro on what rare disease are and provide statistics, the diseases it covers
2. Mention about the details about the policy
3. Analyse how it helps Indians
4. Mention what the policy fails to cover and the roadblocks
5. Way forward