The government has issued a notification saying that the existing policy will be kept in abeyance till it issues a revised policy
What is rare disease
- A rare disease is a health condition of a particularly low prevalence that affects a small number of people compared with other prevalent diseases in the general population.
- Rare diseases include genetic diseases, rare cancers, infectious tropic diseases and degenerative diseases. 80% of rare diseases have identified genetic origins. Other rare diseases are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative.
- There is no universally accepted definition of rare diseases and the definitions usually vary across different countries. Three elements to the definition as used in various countries are as follows:
- The total number of people having the disease
- Its prevalence
- Non-availability of treatment for the disorder
- World Health Organisation defines rare disease as often debilitating lifelong disease or disorder condition with a prevalence of 1 or less, per 1000 population
Rare disease in India
- India, like many other developing countries, currently has no standard definition of rare diseases and data on prevalence.
- So far only about 450 rare diseases have been recorded in India from tertiary care hospitals
- The most common rare diseases include Haemophilia, Thalassemia, Sickle-cell Anaemia and Primary Immuno Deficiency in children, auto-immune diseases, Lysosomal storage disorders such as Pompe disease, Cystic Fibrosis, Haemangiomas and certain forms of muscular dystrophies.
Issues with Rare disease
- Lack of access to correct diagnosis: Since these diseases are not found commonly, doctors are typically unaware about them and therefore either misdiagnose or do not diagnose them. Delay in diagnosis or a wrong diagnosis increases the suffering of the patients exponentially.
- Lack of scientific knowledge: The field of rare diseases is complex and heterogeneous and suffers from a deficit of medical and scientific knowledge. Apart from a few rare diseases, where significant progress has been made, the field is still at a nascent stage.
- Lack of quality Information: The lack of quality data on incidence and prevalence of rare diseases impedes understanding. The economic burden of most rare diseases is unknown and cannot be adequately estimated from the existing data sets
- Unavailability of treatment: About 95% rare diseases have no approved treatment and less than 1 in 10 patients receives disease specific treatment
- High cost of treatment: Given that the market is small, the field of rare diseases has not been considered profitable for drug developers and manufacturers globally. This makes the available treatments prohibitively expensive. Additionally, treatment cost is not being covered by insurance companies which makes the situation worse.
- Challenges in research and development: Rare diseases are difficult to research upon as the patient pool is very small and it often results in inadequate clinical experience. This
- Varying definitions: The use of inconsistent definitions and diverse terminology can result in confusion and inconsistencies and have implications for access to treatment and for research and development
National policy for rare disease
High treatment cost of rare disease has compelled families from rare diseases to approach the courts seeking directions that the government must provide the drugs for free, so that the treatment could continue.
Consequently, Delhi High court had directed the Ministry of Health & Family Welfare to frame a “national policy on treatment of rare diseases. Delhi High Court has categorically stated that low disease incidence cannot be the state’s basis for denying someone the right to life enshrined under Article 21 of the Constitution.
In light of the severity and impact of rare diseases on patients and their families and the directions of the High Court of Delhi, the policy for facilitating access to treatment for rare diseases has been prepared.
- It recommends that families below the poverty line are given free and supportive services in private or government hospitals.
- Constituting a Rare Diseases Cell within MoHFW, ICMR and DoP in the Ministry of Chemicals and Fertilizers to be the nodal for the activities related to rare diseases
- It provides corpus fund of 100 Crores for part funding treatment of rare diseases. the Central government will contribute 60 percent towards spending on treatment, while state governments will have to bear the remaining 40 percent of the cost.
- Creating a patient registry for rare diseases housed in ICMR
- On the basis of the current knowledge, developing materials for generating awareness in the general public, patients and their families and for training of health care providers.
There is a macroeconomic allocation dilemma between rare and common diseases. On one hand, health problems of a much larger number of persons can be addressed by allocating a relatively smaller amount, on the other, for funding treatment of rare diseases, much greater resources will be required for addressing health problems of a relatively smaller number of persons.
Issue with National Policy on treatment of rare disease
- Definition of rare diseases: India does not have a definition for rare diseases. The new policy does not define this either, leaving it unresolved.
- No Corpus fund: Though the corpus fund of 100 Crores was provided in the affidavit, no such corpus was created under National Health Mission
- There is no clarification as to whether the financial help for treatment would only be provided for BPL patients or would also include APL patients
The government should create a new and inclusive rare disease policy as soon as possible. New policy should allocate substantial resources to research for the development of new platform therapies that could commonly treat different rare diseases, with the additional possibility of simultaneously bringing down the costs of current treatments.
There is an immediate need to create awareness among general public, patients and their families and doctors, training of doctors for better diagnosis, standardisation of diagnostic modalities, developing of new diagnostic tools and investment in gene therapy.