Context : Created in 2008, Rare Disease Day is observed on the “rarest day of the year”—February 29 in leap years
What are rare diseases?
- 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 rare disease as often debilitating lifelong disease or disorder with a prevalence of 1 or less, per 1000 population. However, different countries have their own definitions to suit their specific requirements and in context of their own population, health care system and resources
- It is estimated that globally around 6000 to 8000 rare diseases exist with new rare diseases being reported in the medical literature regularly.
Characteristics
- A rare disease in US is defined as one that affects fewer than 200,000 people across a broad range of possible disorders.
- Chronic genetic diseases are commonly classified as rare. Among numerous possibilities, rare diseases may result from bacterial or viral infections, allergies, chromosome disorders, degenerative and proliferative causes, affecting any body organ. Rare diseases may be chronic or incurable, although many short-term medical conditions are also rare diseases.
Rare disease issues and challenges
- The varying definitions of rare diseases- Different countries have their own definitions to suit their specific requirements and in context of their own population, health care system and resources. The use of varying definitions and diverse terminology can result in confusion and inconsistencies and has implications for access to treatment and for research and development.
- Diagnosis of rare diseases -Early diagnosis of rare diseases is a challenge owing to multiple factors that include lack of awareness among primary care physicians, lack of adequate screening and diagnostic facilities.
- Challenges in research and development- A fundamental challenge in research and development for the majority of rare diseases is that there is relatively little known about the pathophysiology or the natural history of these diseases.
- Unavailability of treatment – Availability and access to medicines are important to reduce morbidity and mortality associated with rare diseases.
- The prohibitive cost of treatment- As the number of persons suffering from individual rare diseases is small, they do not constitute a significant market for drug manufacturers to develop and bring to market drugs for them. For this reason, rare diseases are also called ‘orphan diseases’ and drugs to treat them are called “orphan drugs”. Where, they do make drugs to treat rare diseases, the prices are extremely high apparently to recoup the cost of research and development.
Need for a Policy
- Rare diseases are, in most case illnesses, often requiring longs, serious, chronic, debilitating and life-threatening term and specialised treatments/management. In addition, they often result in some form of handicap, sometimes extremely severe. Moreover, they disproportionately impact and are children: 50% of new cases are in children responsible for 35% of deaths before the age of 1 year, 10% between the ages of 1 and 5years and 12% between 5and15years.
- The impact on families is often catastrophic in terms of emotional as well as drain, as the cost of treatment is prohibitively high. This requires the need of policy for Rare Disease
National Policy for Treatment of Rare Diseases
- The Government has launched National Policy for Rare Diseases (NPRD), 2021 in March 2021 for the treatment of rare disease patients.
- The salient features of NPRD, 2021 are as under:
- The rare diseases have been identified and categorized into 3 groups namely Group 1, Group 2 and Group 3.
- Group 1: Disorders amenable to one-time curative treatment.
- Group-2: Diseases requiring long term/lifelong treatment having relatively lower cost of treatment and benefit has been documented in literature and annual or more frequent surveillance is required.
- 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.
- Provision for financial support of up to Rs. 50 lakhs to the patients suffering from any category of the Rare Diseases and for treatment in any of the Centre of Excellence (CoE) mentioned in NPRD-2021, outside the Umbrella Scheme of Rashtriya Arogaya Nidhi.
- In order to receive financial assistance for treatment of rare disease, the patient of the nearby area may approach the nearest Centre of Excellence to get him assessed and avail the benefits.
- Eight (08) Centres of Excellence (CoEs) have been identified for diagnosis, prevention and treatment of rare diseases.
- Five Nidan Kendras have been set up for genetic testing and counselling services.
- The NPRD, 2021 has provisions for promotion of research and development for diagnosis and treatment of rare diseases; promotion of local development and manufacture of drugs and creation of conducive environment for indigenous manufacturing of drugs for rare diseases at affordable prices.
Initiatives taken by the government for treatment of rare diseases
- Department of Pharmaceuticals has initiated the implementation of Production Linked Incentive Scheme for Pharmaceuticals. The Scheme provides for financial incentives to manufacturers selected under the Scheme for domestic manufacturing of various product categories, which also include Orphan drugs.
- Department of Revenue, Ministry of Finance gives full waiver of Basic Customs Duty (BCD) and Integrated Goods and Services Tax (IGST) to drugs imported (personal use only) for treatment of Spinal Muscular Atrophy (SMA) rare disease, thereby making the medicines for SMA rare disease more affordable.
- In addition, Department of Revenue, Ministry of Finance has given exemption from Basic Customs Duty to drugs or medicines, which are used in the treatment of Rare Diseases when imported by Centres of Excellence (CoEs) as specified in NPRD, 2021 or any person or institution on recommendation of any Centre of Excellence listed in NPRD, 2021, certifying that the person (by name) for whom the drugs or medicines are imported, is suffering from a rare disease (to be specified by name) and requires the drugs or medicines for the treatment of said rare disease
Orphan disease
- Orphan diseases are used to denote neglected diseases which has not been adopted by the pharmaceutical industry because it provides little financial incentive for the private sector to make and market new medications to treat or prevent it.
- An orphan disease may be a rare disease (according to US criteria, a disease that affects fewer than 200,000 people) or a common disease that has been ignored (such as tuberculosis, cholera, typhoid, and malaria) because it is far more prevalent in developing countries than in the developed world.
- Example – Fabry’s disease, alveolar echinococcosis, and even some common conditions such as endometrial cancer and diabetes in preschool children.