Context: Central government has given full exemption from basic customs duty on all drugs and food for special medical purposes imported for personal use for treatment of all Rare Diseases listed under National Policy for Rare Diseases, 2021.
Customs Duty Exemption for Rare Diseases
- To avail this exemption, individual importer must produce a certificate from Central or State Director Health Services or District Medical Officer/Civil Surgeon of districts.
- Government has also fully exempted Pembrolizumab (Keytruda) used in treatment of various cancers from basic customs duty.
- Drugs/Medicines generally attract basic customs duty of 10%, while some categories attract concessional rate of 5% or nil.
- This exemption will result in substantial cost savings and provide much needed relief to patients as it is estimated that for a child weighing 10 kg, annual cost of treatment for some rare diseases may vary from Rs 10 lakh to more than Rs 1 crore per year with treatment being lifelong and drug dose and cost, increasing with age & weight.
Salient Features of National Policy for Rare Diseases, 2021
Ministry of Health & Family Welfare has launched National Policy for Rare Diseases, 2021 for treatment of rare disease patients.
Rare diseases have been identified & categorised into three groups:
- Group 1: Disorders amenable to one-time curative treatment.
- Disorders amenable to treatment with Hematopoietic Stem Cell Transplantation. Ex. Lysosomal Storage Disorders, Osteoporosis etc.
- Disorders amendable to organ transplantation. Ex. Glycogen storage disorders.
- Group 2: Diseases requiring long term/lifelong treatment having relatively lower cost of treatment & benefit has been documented in literature and annual or more frequent surveillance is required.
- Disorders managed with special dietary formulae or food for special medical purposes. Ex. Phenylketonuria (PKU) etc.
- Disorders that are amenable to other forms of therapy (hormone/specific drugs).
- Group 3: Diseases for which definitive treatment is available but challenges are to make optimal patient selection for benefit, very high cost and lifelong history.
- Sufficient evidence for good long-term outcomes exists. Ex. Gaucher Disease etc.
- Disorders for which cost of treatment is very high and follow literature is not available. Ex. Cystic Fibrosis, Spinal Muscular Atrophy etc.
- Centres of Excellence: Eight (08) Centres of Excellence (CoEs) have been identified for diagnosis, prevention & treatment of rare diseases. These are premier Government tertiary hospitals with facilities for diagnosis, prevention & treatment of rare diseases. For ex. AIIMS, New Delhi etc. These CoEs will be provided one time grant of upto Rs 5 crore each for infrastructure development for screening, tests, treatment etc.
- NIDAN Kendras: Department of Biotechnology under Unique Methods of Management of Inherited Disorders (UMMID) initiative has supported the establishment of Genetic Diagnostic Units i.e., National Inherited Disorders Administration Kendras (NIDAN Kendras) to provide comprehensive clinical care including diagnosis, management, multidisciplinary care, counselling, prenatal testing of rare diseases.
- Financial Support for patients of Rare Diseases:
- Provision of financial support up to Rs 50 lakhs shall be provided to patients suffering from any category of Rare Diseases. Financial support will be provided to patients for treatment in any of the Centre of Excellence (CoE) under National Policy of Rare Diseases-2021, outside the Umbrella Scheme of Rashtriya Arogya Nidhi.
- State Governments can consider supporting patients of rare diseases that can be managed with special diets or hormonal supplements or relatively low-cost interventions (Group 2 diseases).
- Digital Portal for Crowd Funding and Voluntary Donations for Patients of Rare Diseases.
- Prevention of Rare Diseases: Due to advancement in technologies, understanding of pathophysiological mechanism of rare genetic disorders has improved. This can done by:
- Primary Prevention: Focusing on preventing birth of an affected child by avoidance of pregnancy in advanced age, or any other monogenic disorder by not marrying a carrier, carrier couples not reproducing etc.
- Secondary prevention: Avoiding birth of affected fetus by prenatal screening and prenatal diagnosis, early detection of disorders and appropriate medical intervention to ameliorate or minimize manifestations of rare diseases by newborn screening.
- Tertiary prevention: Provision of better care and medical rehabilitation to those rare disease patients who present at advanced stage of disease.
- Manpower: States to create department of medical genetics in at least one medical college in the State for imparting education and increasing awareness.
- Affordability of drug related to rare diseases:
- ICMR, CSIR etc to focus on promoting R&D in the field of rare diseases for diagnostics and treatment of rare diseases.
- Focus will be on development of new drugs, repurposing of drugs and use of biosimilars.
- Finance Ministry to reduce customs duties on import of medicines for rare diseases.
Definition of Rare Diseases
- WHO defines rare disease as often debilitating lifelong disease or disorder with a prevalence of 1 or less, per 1000 population.
- However, India lacks epidemiological data to be able to define rare diseases in terms of prevalence. To overcome this, a hospital based National Registry for Rare Diseases has been initiated by ICMR by involving centres across India that are involved in diagnosis and management of Rare Disease. This will yield much needed epidemiological data for rare diseases.
Challenges with Rare Diseases
- Rare diseases are very complex and heterogenous with new rare diseases and conditions being identified and reported regularly.
- Issues of Diagnosis of rare diseases:
- Early diagnosis of rare diseases is complex due to lack of awareness among primary care physicians, lack of adequate screening and diagnostic facilities. Traditional genetic testing includes tests that can only address a few diseases.
- Lack of awareness about rare diseases in general public and medical fraternity leading to delay in diagnosis or wrong diagnosis.
- Issues of R&D about rare diseases:
- R&D of most of rare diseases is difficult as little is known about pathophysiology or natural history of these diseases particularly in the Indian context.
- Very small patient pool with rare diseases results in inadequate clinical experience and less research focus.
- Challenges in treatment:
- Effective or safe treatment is not available for most rare diseases. Of the 7000-8000 rare diseases, less than 5% have therapies to treat them.
- Cost of treatment of rare diseases is prohibitively expensive.
- Lack of epidemiological data: Data regarding rare diseases are not collected effectively in India which impedes understanding the extent of burden of rare diseases and development of a definition.
- Economic burden: Rare diseases place a major economic burden on resources of country.
Suggestions for Rare Diseases
- Definition of Rare Diseases: Currently, the definition of rare diseases is mostly prevalence based. There is a need to move beyond which focuses on regional specificity, rarity, severity and study ability of the disease.
- Expanding genetic testing: Expanding genetic testing based on next generation sequencing or chromosomal microarray which are expensive and time-consuming process with interpretation and counselling issues at times.
- Increasing awareness: There is an immediate need to create awareness amongst public, patients and medical fraternity for early and accurate diagnosis, standardisation of diagnostic modalities and newer diagnostic and therapeutic tools.
- International & regional collaborations for research, collaborations with physicians working of rare diseases and with patient groups and their families. This will lead to better understanding about pathophysiology of rare diseases and access to wider patient pool.
- Incentives for Orphan drugs: On the lines of Orphan Drug Act in USA & Canada, India’s drug makers should incentivise drug makers to manufacture drugs for rare diseases.
- Prevention: Focusing on developing infrastructure by newborn screening, prenatal diagnosis and prenatal screening especially in children whose families have a history of rare diseases.
- Epidemiological data: Epidemiological data should be collected at Centre of Excellence and share with ICMR.
About Rashtriya Arogya Nidhi (RAN)
- This scheme is being implemented by Ministry of Health and Family Welfare to provide financial assistance to patients, living below poverty line and who are suffering from major life-threatening diseases, to receive medical treatment at any super speciality hospitals/institutes or other government hospitals.
- Financial assistance is released to such patients in the form of ‘one-time grant’, which is released to the Medical Superintendent of Hospital in which the treatment has been/is being received.
- Under RAN Revolving Funds have been set up in 13 Central Government Hospitals/Institutions, located all over India for providing financial assistance for treatment up to Rs 2 lakh. In addition financial assistance is provided for individual cases referred by Government hospitals/institutions, which do not have a Revolving Fund and for cases referred by 13 Government hospitals/institutions with Revolving Funds for assistance exceeding Rs. 2 lakh.