UPSC Issue at a Glance | Rare Diseases and India: 4 Key Questions You Must Know for Prelims and Mains

require immediate and urgent attention. Despite recognizing rare diseases as a significant public health challenge and India’s commitment to providing accessible healthcare, we still face obstacles in addressing this issue. In this context, let’s understand rare diseases from a broad perspective.

Why is this issue relevant?

Health and government policies related to it are crucial components of the UPSC CSE syllabus. Additionally, the UPSC frequently includes questions on health and associated policies in its examinations. For example, in 2020, the UPSC asked questions about geriatric and maternal healthcare. Similarly, in 2018, there was a question regarding community-level healthcare interventions aimed at achieving “Health for All.”

UPSC Syllabus: 

Preliminary Examination: Current events of national importance, General Science and Governance

Mains Examination: General Studies-II: Government policies and interventions, Issues relating to development and management of Social Sector/Services relating to Health.

Question 1: What are rare diseases, and how are they classified in India? 

There is no universally accepted definition of rare diseases. The World Health Organisation (WHO) says a disease is rare when one in 10,000 people is affected by it. It is estimated that around 6% to 8% of the population has a rare disease, which translates to approximately 84 million to 100 million Indians living with these conditions. For many of these diseases, treatments either do not exist or are extremely expensive. Some common rare diseases include haemophilia, Pompe disease, thalassaemia, sickle cell anemia, and Gaucher’s disease.

In India, rare diseases are categorised into three groups based on the nature and complexity of available treatment options.

📍Group 1: It includes diseases that can be treated with a one-time curative procedure.

📍Group 2: It consists of diseases that require long-term or lifelong treatment, which are relatively less costly and have shown documented benefits, but patients need regular check-ups.

📍Group 3: It includes those diseases for which effective treatments are available, but they are expensive and must often continue lifelong. There are challenges in selecting the right beneficiaries for these treatments.

After learning about rare diseases, a natural question arises: what is India’s policy and other efforts for addressing rare diseases?

Question 2: What is the policy framework for rare diseases in India?  

In India, a policy addressing rare diseases was initiated in 2017 following petitions from individuals with rare diseases presented to the High Court of Delhi. However, this policy faced several criticisms, including a lack of clarity and transparency. A significant challenge in implementing the 2017 policy was the tension regarding responsibilities between the central and state governments, as health measures are considered a State subject in the Indian Constitution. Acknowledging these difficulties, the central government revised its policy and introduced a new one in 2021: the National Policy for Rare Diseases (NPRD).

National Policy for Rare Diseases (NPRD), 2021

The National Policy for Rare Diseases was launched recognises the difficulties in defining rare diseases and depends on experts categorising these conditions based on their clinical experience. The policy classifies rare diseases into three distinct groups: 1. Diseases that require one-time treatment. 2. Diseases necessitating long-term treatment with proven effectiveness and relatively low costs. 3. Diseases that require long-term treatment but involve high costs and limited data regarding the effectiveness of such treatments.

The policy offers financial assistance of  Rs 50 lakh and seeks to improve the diagnosis, prevention and treatment of rare diseases by introducing accessible institutes acting as Centres of Excellence. The CoEs include AIIMS in Delhi, PGIMER in Chandigarh, and the Institute of Postgraduate Medical Education and Research at Kolkata’s SSKM Hospital.

Notably, presently, 63 rare diseases are included under the National Policy for Rare Diseases, which was recommended by the Central Technical Committee for Rare Diseases (CTCRD).

Other Initiatives

In addition to the NPRD, 2021, several other initiatives have been launched to address funding issues related to the treatment of rare diseases. The Health Ministry has established a Digital Portal for Crowdfunding and Voluntary Donations. This portal provides information about patients and their rare diseases, the estimated costs of treatment, and the bank details of the Centers of Excellence (CoEs). Donors have the option to choose which CoE and patient treatments they wish to support. Each CoE also maintains its own Rare Disease Fund, which can be utilized with the approval of its governing authority.

Furthermore, on October 4, the Delhi High Court directed that the Centre to establish a National Fund for Rare Diseases and allocate Rs 974 crore for 2024-25 and 2025-26.

Despite these initiatives and policy frameworks, certain challenges remain in addressing the issue of rare diseases. Let’s understand them.

Question 3: What challenges are faced in diagnosing and treating rare diseases?

Various challenges exist in diagnosing and treating rare diseases. Some of these include:

1. Limited and Expensive Treatments: Therapies are available for less than 5% of rare diseases, which means fewer than 1 in 10 patients receive care specific to their condition. Existing treatments are often very expensive. Although the Centre offers financial assistance to various Centres of Excellence (COEs) for treatment, stakeholders have taken legal action to address challenges in accessing these funds.

2. Expensive Medicines: Many medicines for rare diseases are patented, which makes them very expensive. Because the market for these drugs is small and the development costs are high, pharmaceutical companies often do not find it profitable to produce them, leading to increased prices. As a result, these drugs are referred to as “orphan drugs.”

3. Delays and Red Tape in Decision Making: This is a significant issue. AIIMS and other Centers of Excellence  have been importing the drugs through distributors for patient treatment, and the delay in decision making negatively affects treatment.

4. Lack of awareness:  Lack of awareness among healthcare providers is also a big challenge in the diagnosis and treatment of rare diseases.

5. Gaps in NPRD: The National Policy for Rare Diseases (NPRD) recognizes various rare diseases, but its list is not comprehensive, leaving out a significant number of rare diseases. This exclusion is further compounded by the absence of prevalence data, which could help establish a clearer definition of rare diseases within the policy.

Above mentioned challenges raises the question of what steps should be taken to better address the issue of rare diseases? Let’s understand it.

Question 4: How can India enhance its response to rare diseases?

Despite the well-meaning efforts, the National Policy for Rare Diseases, 2021 seems to be lacking. In this context, it is essential to consider additional measures to improve India’s approach to rare diseases.

📍Legislative measures such as compulsory licensing of patents and drug price capping for rare diseases could be considered to make treatments more affordable and accessible.

📍Priyam Lizmary Cherian and Saraswathy Vaidyanathan write, “There is a need to incentivise indigenous innovation and the production of treatments for rare diseases. Further, policymakers should ensure that treatment is not only available but also affordable. The onus should also lie with the pharmaceutical companies to work with governments in formulating strategies to allow expedited and timely access to treatment. Such collaboration will perhaps align with the level of care that persons with rare diseases are entitled to.”

📍Developing and manufacturing orphan drugs in India could help bring down prices, but the government will have to offer incentives such as tax breaks to companies.

📍If treatments or medicines for rare diseases are unavailable, the government can, under the Patents Act of 1970, allow a third party to manufacture these products in exchange for a royalty payment to the patent holder. Additionally, the government has the authority to acquire patents to ensure the availability of medicines if the patent holder fails to provide them.

Thus, a comprehensive and inclusive strategy—encompassing policy reforms, promoting domestic innovation, and ensuring affordable access to treatment—is essential for tackling the challenges of rare diseases and safeguarding the right to health for all.

Post Read Questions

Prelims

(1) With reference to rare diseases, consider the following statements:

1. Some rare diseases can be treated with a one-time curative procedure and some require long-term or lifelong treatment.

2. Therapies are available for around 50 per cent of rare diseases.

3. Gaucher’s disease is categorised as a rare disease.

How many of the statements given above are correct?

(a) Only one

(b) Only two

(c) All three

(d) None

(2) With reference to the Pompe disease, consider the following statements:

1. It is a water-borne disease.

2. It is also known as Glycogen Storage Disease Type II.

Which of the statement(s) given above is/are correct?

(a) 1 only

(b) 2 only

(c) Both 1 and 2

(d) Neither 1 nor 2

Mains

Appropriate local community-level healthcare intervention is a prerequisite to achieve ‘Health for All’ in India. Explain. (UPSC CSE 2018)

“Besides being a moral imperative of a Welfare State, primary health structure is a necessary precondition for sustainable development.” Analyse. (UPSC CSE 2021)

For More Read:

📍Treatment of rare diseases: India must incentivise indigenous innovation and production

📍Issues in the treatment of ‘rare diseases’, and what the govt can do

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