National Policy for Rare Disease 

1. About

• A rare disease is a health condition of low prevalence that affects a small number of people compared with other prevalent diseases in the general population.
• WHO defines a rare disease as often debilitating lifelong disease or disorder condition with a prevalence of 1 or less, per 1000 population. 
• However, different countries have their definitions to suit their specific requirements and in the context of their population, the health care system and resources. 

2. Indian Scenario

• India, like many other developing countries, currently has no standard definition of rare diseases and data on prevalence. 
• Data on how many people suffer from different rare diseases in India is lacking. 
• If we apply the international estimate of 6% to 8% of the population being affected by rare diseases, to India, we have between 72 to 96 million people affected by rare diseases in the country, which is a significant number. However, this is at best a general estimate
• (10) and India will need to arrive at its estimate and definition of rare diseases, derived chiefly from prevalence data, which is currently lacking.
• So far only about 450 rare diseases have been recorded in India from tertiary care hospitals (10). The most common rare diseases include Haemophilia, Thalassemia, Sickle-cell Anaemia and Primary ImmunoDeficiency in children, auto-immune diseases, and Lysosomal storage disorders such as Pompe disease, Hirschsprung disease, Gaucher’s disease, Cystic Fibrosis, Hemangiomas and certain forms of muscular dystrophies.

3. Rare diseases as a public health issue

• The field of rare diseases is complex and heterogeneous and suffers from a deficit of medical and scientific knowledge. 
• The landscape of rare diseases is constantly evolving as new rare diseases and conditions are being identified and reported regularly in the medical literature. 
• Apart from a few rare diseases, where significant progress has been made, the field is still at a nascent stage. 
• For a long time, doctors, researchers and policymakers were unaware of rare diseases and until very recently there was no real research or public health policy concerning issues related to the field. 
• This poses formidable challenges in the development of a comprehensive policy on rare diseases. 
• Nevertheless, it is important to take steps, in the short as well as long term, to tackle rare diseases holistically and comprehensively.

4. Policy recommended by Various committees appointed by the government

• The committees made several recommendations for the formulation of a ‘national policy for the treatment of rare diseases. 
• The recommendations go beyond treatment funding and take a more holistic approach towards rare diseases, encompassing suggestions towards - prevention, awareness creation, training, research and development in treatment and diagnosis, development and manufacturing of drugs for rare diseases at affordable prices, provision of insurance coverage etc.
• The recommendations fall in the domain of several ministries and departments, which is a recognition of the fact that an effective response to rare diseases will require a comprehensive and convergent intersectoral effort. 
• The Policy Directions in the next section reflect on this recognition and delineate the roles of ministries and departments, in addition to the Ministry of Health and Family Welfare.

5. National Policy for Rare Disease 2021

• The main aim of the national policy for rare diseases 2021 is to concentrate on more production of medicine about rare diseases and their research. 
• It also pertains to reducing the cost of the treatment of these rare diseases so that it becomes affordable to common people. 
• Proper screening and detection of the rare disease at the initial stage are important. This will help in the prevention of rare diseases on a larger scale. 
• These policies intend to promote a better healthcare system.

5.1.Provision Of National Policy For Rare Diseases 2021

These group of rare diseases are:

• Group 1

• This group of rare diseases 2021 comprises the disorders which can be curated by one-time treatment.

• Group 2

• The diseases under the group 2 category require treatment for a long time for their full eradication.

• Group 3 

• Under group 3 the category of rare disease requires definitive treatment. Altho the treatment is available the challenges are very big which come with the high cost and lifelong treatment.

5.2.Financial Assistance

• People suffering from group 1 rare disease will get financial support of around 20 lakh. This falls under the scheme of Rashtriya arogya Nidhi.
• Rashtriya Arogya Nidhi is a government scheme that looks after the financial aspects of the treatment of patients who are below the poverty line. 
• They are suffering from life-threatening rare diseases. 
• They can avail of medical treatment at government hospitals and institutes. 
• They will get financial assistance from the government. 

6. Significance of the policy

• It will increase focus on indigenous research and local production of medicines.
• Under crowdfunding, corporates and individuals will be encouraged to extend financial support through a robust IT platform.
• The national hospital-based registry will ensure adequate data and comprehensive definitions of such diseases.
• Early screening and detection will help the prevention of rare diseases.

7. Disquiet and associated challenges

• Though the document
• specifies increasing the government support for treating patients with a ‘rare disease’— from ₹15 lakh to ₹20 lakh — caregivers say this doesn't reflect actual costs of treatment.
• It offers no support to patients under the earlier National Policy for Treatment of Rare Diseases 2017.
• Patients with Group 3 rare diseases are left to fend for themselves due to a lack of proper selection criteria.
• There are 7,000-8,000 classified rare diseases, but less than 5% have therapies available to treat them. 
• About 95% of rare diseases have no approved treatment and less than 1 in 10 patients receive disease-specific treatment. 
• These diseases have differing definitions in various countries which act as a hindrance to getting treatment abroad and also medical tourism.
• There were “implementation” challenges pointed out by States with the key question again remaining about costs.
• In the absence of sustainable funding support for Group 3 patients, the lives of all patients, mostly children, are now at risk and at the mercy of crowdfunding as the Union government has left patients with Group 3 rare diseases to fund for themselves in the National Policy for Rare Diseases 2021.
• Even Group 1 is only for a few and Group 2 has been openly left to the State government.
• The policy fails to capture that these diseases last a lifetime and also does not realise that people might not be able to even make it to the prescribed tertiary hospitals for treatment.
• Diseases such as LSD for which definitive treatment is available, but costs are prohibitive, have been categorised as Group 3. However, no funding has been allocated for the immediate and lifelong treatment needs, for therapies already approved by the Drugs Controller General of India (DGCI).

8. Need of the Hour

• There is a need to balance competing priorities of public health in “resource-constrained” settings.
• The Ministry of Health and Family Welfare should come up with an immediate seed funding of Rs. 80 crores to Rs. 100 crores so that life-saving therapy for all patients can be provided, thereby reducing further loss of life.
• It should also design and execute a 100-day roll-out plan after the national policy is notified to prioritise treatment of all eligible rare disease patients and prioritise and encourage States with a matching grant.
• If the Centre can extend the cost-sharing agreements that it has worked out with Kerala, Tamil Nadu and Karnataka, with other States too, its share of the annual costs will be halved.