The tragic passing of a 19-year-old child actress from dermatomyositis, a rare and debilitating disorder characterized by muscle inflammation, underscores the urgent challenges confronting those affected by rare diseases.
The timing of the death in February, close to Rare Disease Day (February 29)), which is observed on the last day of February each year, brings a heightened level of awareness to the challenges faced by individuals with rare diseases.
RARE DISEASES:
A rare disease is any disease that affects a small percentage of the population. A rare disease occurs infrequently in a population, but there is no universal definition. It varies from country to country.
Three elements to define rare diseases 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
India,like many developing countries, currently has no standard definition.
The World Health Organization (WHO) has suggested that a rare disease should be defined as one with frequency less than 6.5 – 10 per 10,000 people.
Rare diseases became known as orphan diseases when drug companies are not interested in adopting them to develop treatments.
RARE DISEASES IN INDIA:
The National Policy for Rare Diseases document indicates that India has approximately 50 to 100 million individuals affected by rare diseases or disorders.
India accounts for one-third of the global rare disease incidence, with over 450 identified diseases. These range from widely known ones such as Spinal Muscular Atrophy and Gaucher’s disease to lesser-known ones such as Mucopolysaccharidosis type 1 and Whipple’s disease.
GOVERNMENT EFFORTS:
The National Policy for Rare Diseases (NPRD), 2021:
The Ministry of Health and Family Welfare formulated a national policy to treat rare diseases in 2017 but withdrew it in 2018 owing to “implementation challenges” and confusion regarding disease coverage, patient eligibility, and cost-sharing. A revised policy, the National Policy for Rare Diseases (NPRD), was announced in 2021. Key components of this policy include:
Categorization of diseases:
Group 1: Disorders amenable to one-time curative treatment
Group 2: Diseases requiring long term / lifelong treatment having relatively lower cost of treatment
Group 3: Diseases having definitive treatment but are costly and need lifelong therapy.
Financialsupport up to Rs. 50 lakhs for patients suffering from any category of rare diseases for treatment at any of the identified Centres of Excellence (CoE) outside the Umbrella Scheme of Rashtriya Arogya Nidhi.
Twelve Centres of Excellence have been designated for diagnosis, prevention, and treatment of rare diseases.
Establishment of five Nidan Kendras for genetic testing and counseling services.
Provisions for promoting research and development for diagnosis and treatment of rare diseases, encouraging local drug development and manufacture, and creating a conducive environment for indigenous manufacturing of drugs for rare diseases at affordable prices.
Production Linked Incentive:
Implementation of the Production Linked Incentive Scheme for Pharmaceuticals by the Department of Pharmaceuticals, which includes incentives for domestic manufacturing of orphan drugs.
Tax exemptions:
Exemptions from Basic Customs Duty (BCD) and Integrated Goods and Services Tax (IGST) for drugs imported for personal use for the treatment of Spinal Muscular Atrophy (SMA) and other rare diseases, making these medicines more affordable.
CHALLENGES AND ISSUES ASSOCIATED WITH RARE DISEASES:
Diagnostic Delays:
Diagnosis of rare diseases typically spans seven years on average, primarily due to a lack of awareness among primary care physicians and a lack of adequate screening and diagnostic facilities.
Treatment Accessibility:
A fraction of rare diseases have approved treatments available in India, with access limited to specialized centers. Allocated funds for rare diseases prove inadequate, raising concerns regarding the sufficiency of treatment and therapy.
For instance, less than 50% of the 450-odd rare diseases identified in India are treatable, with treatments approved by the Drugs Controller General of India are available for just about 20 rare diseases and can be availed only from Centres of Excellence (CoEs).
Prevalence and Impact:
Rare diseases, though individually uncommon, collectively affect a significant portion of the population. For instance, a rough estimate suggests that about 8 crore-10 crore Indians suffer from one rare disease or another, with over 75% being children.
Lack of Definition and Policy:
India lacks a standard definition for rare diseases, which complicates policy formulation and resource allocation.
Although a national policy for rare diseases was announced in 2021, implementation challenges persist, and there's confusion regarding disease coverage, patient eligibility, and cost-sharing.
Budget’s allocation:
The Budget’s allocation for rare diseases, although increasing over the years, remains low at ?93 crore for 2023-2024, with previous years having seen reductions of up to 75% from the Budget Estimate stage to the Revised Estimates and an even worse reduction of 90% in actual expenditure.
Inadequate financial assistance:
Under the NPRD guidelines, up to ?50 lakh is allowed per patient, which will be disbursed to the concerned CoE. As chronic, rare diseases usually require lifelong management and therapy, this amount is woefully inadequate.
Limited and Unevenly Distributed CoEs:
With only 12 CoEs across the country, unevenly distributed, coordination issues arise. Late diagnosis, inadequate therapies, and delayed availability of medicines exacerbate the challenges.
Challenges of Neglected Rare Diseases in Drug Development:
Rare diseases, labeled as orphan diseases due to lack of interest from drug companies, face low R&D focus. Marginalized in the pharmaceutical industry due to small patient populations, drugs targeting them are classified as 'orphan drugs'.
WAY FORWARD:
Standard Definition and Funding:
Frame a standard definition of rare diseases.
Increase budgetary allocations and dedicate funds for drug development and therapy.
Improving Healthcare Infrastructure:
Expand the number of specialized treatment centers and ensure equitable distribution.
Develop satellite centers under Centers of Excellence (CoEs).
Early Detection and Screening:
Implement mandatory pre-natal and post-natal screening for expectant mothers with a family history of rare diseases.
Make newborn screening mandatory for all treatable diseases across all states.
Public-Private Partnerships:
Leverage public-private partnerships and corporate social responsibility initiatives for funding.
Address the affordability of life-saving drugs through measures such as GST waivers and incentives for domestic drug manufacturers.
Genetic and Health Non-Discrimination:
A genetic and health non-discrimination policy should be strictly enforced in our society at all levels including educational institutions, employment and public facilities to accommodate disabilities of patients with rare diseases.
Prioritizing Gene Therapies:
Make gene therapies a priority area of research, particularly for monogenic rare diseases that can be treated by potentially correcting the genetic defect.
Improving Genetic Counseling Education:
Develop specialized courses to overcome the severe dearth of high-quality degree programs in genetic counseling, particularly in India.
CASE STUDY:
State of Rare Disease Treatment in Karnataka:
Karnataka has been at the forefront of rare disease treatment in India, with its Indira Gandhi Institute of Child Health (IGICH) serving as a pioneering institution.
Free genetic testing has been offered for 15 years, and the state initiated rare disease treatment in 2016 before any national policy was in place. Despite limited resources, Karnataka has treated 50 patients with rare diseases, spending ?60 crore on treatment and supporting those with Primary Immune Deficiency.
CONCLUSION:
While acknowledging the challenges, there's a sense of urgency to prioritize the needs of rare disease patients and find sustainable solutions. Government action, stakeholder collaboration, and community support are essential to addressing the complexities of rare diseases and improving the quality of life for affected individuals and their families.
PRACTICE QUESTION:
Q. What are rare diseases? Discuss the challenges and issues associated with rare diseases. (10 marks, 150 words)
