What is a Rare Disease?
There is no universally accepted
definition of a rare disease and each country has evolved its own definition
accounting for its total population and prevalence and frequency of such
diseases. In the USA, a rare disease is defined by its prevalence as "a disease
that affects less than 200,000 persons." Currently, India does not have a
standard definition for rare diseases. Considering India's total population, Rajasimha,
et al., (2014) suggest that a rare disease can be defined as 1 in 5000.
Challenges With Rare Diseases
Globally, there are 7000 rare diseases
and counting. In India, there are nearly 7 crore people affected with a rare disease. In the state of Karnataka alone, there are around 30-40 lakh affected population.
Despite the huge and growing numbers, rare diseases do not figure anywhere in our country's public health policy. Even the draft National Health Policy 2015
does not contain any reference to rare diseases.
‘Rare disease is a neglected area of health care in India and to address this, the Karnataka government has proposed the first draft rare disease policy to help crores suffering from it.’
In the absence of a public policy
and inaccessible public health care, patients and families with rare diseases are left to languish in the margins with high morbidity rates as diagnosis, treatment and drugs for most rare diseases are expensive (between 1 lakh to 3 crores per annum) and beyond the reach of the common citizen.
As the classification implies, rare diseases involve difficulties in diagnosis, where the average time to diagnose a rare disease is around 7 years and depends on the availability of treatment, as many of the rare diseases do not have any definitive therapies, for example, Niemann-Pick Disease
. Rare diseases also lack established clinical protocols for care and management and access to drugs, where orphan drugs used to treat rare diseases are often inaccessible and expensive.
In India, many children with rare diseases do not live beyond the age of 5. Inaccessible treatment and expensive drugs take a financial toll on the families who are often wiped out economically by the presence of a rare disease.
High morbidity rates and dismal
quality of life presents a hopeless situation for patients and families. In the
light of the above challenges, it is absolutely necessary for all states in
India to enact a rare disease policy.
It is also imperative in the near
future to have a national policy of rare diseases similar to the US (Rare
Diseases Act 2002 and Rare Diseases Orphan Product Development Act 2002) and European
Union (EU Council Recommendation on a European action in the field of rare
diseases in 2009, EU Regulation on Orphan Medicinal Products in 1999).
First Steps for
a Rare Disease Policy
Recognizing the challenges and
the need for a health policy on rare diseases to attain the goal of universal
healthcare for all, the Karnataka Vision Group for Biotechnology along with
other state healthcare agencies supported the drafting of a framework for the
state's first rare disease policy. Karnataka has significant research and
innovation capabilities in biotechnology and genomic sciences to support the positive
action for rare disease communities.
The draft framework was jointly
prepared in consultation with Dr. Meenakshi Bhat, Center for Human Genetics,
Bangalore; Dr. G N Sanjeeva, Indira Gandhi Institute of Child Health,
Bangalore; Dr. Shantaram Baliga, National Neonatal Foundation, Kasturba Medical
College, Manipal; Prof. Anuranjan Anand, Jawaharlal Nehru Center for Advanced
Scientific Research, Bangalore and Harsha Rajasimha and Prasanna Shirol,
Organization for Rare Diseases India. The draft was written by Prof. Vijay
Chandru and Dr. Namitha Kumar, Center for Health Ecologies and Technology
The document was framed
considering EU's recommendation on the action for rare diseases which includes
the following strategies:
diagnosis and screening
to information and support
The draft focuses on the
following key points, which include:
a suitable definition and classification of rare diseases for India.
prevention and diagnostics - the need for antenatal and prenatal testing,
newborn screening, timely diagnosis and early intervention. All these
strategies are a must towards improving the quality of life for people
with rare diseases and prevent early morbidity and complications.
and care - a model of care, which includes primary care and specialist,
care with access to genetic testing and sequencing for targeted therapies.
Interdisciplinary care coordination and management for improved outcomes.
- Paramedical and palliative care support - basic centers with trained staff to provide simple services like giving injections, IV and infusions, changing tracheotomy tubes, etc.
- Orphan drugs and devices - an orphan drug act providing incentives for pharma and biotech companies to develop indigenous drugs, generic molecules and biosimilars for rare diseases. Medical devices will also be developed and manufactured at affordable rates. Dietary supplements will also receive similar concessions.
- Disease surveillance program - monitoring and documentation of incidence and prevalence of rare diseases in the state.
- Research - towards improving therapeutics for rare disease care.
- Health education - towards educating medical students and practicing clinicians in rare disease-related issues.
- Facilities and support systems - including a health insurance program for patients, access to inclusive education and caretaker aid (to provide relief for the family who may be the primary caregivers).
The draft framework is an
inclusive document aimed at alleviating the suffering of rare disease patients
and families in the state through government support and funding. Rare diseases
must be brought into the mainframe of health policies if our respective states
and the country have to achieve universal health care access. The burden of
rare diseases is too high to ignore and has to be brought to the purview of
healthcare policy makers and health financiers (government).
The draft framework was submitted
to the National Health Mission (Karnataka) on 1 March 2016 at the Blue Ribbon
Art Exhibition and Film Festival for Rare Diseases organized by CHET. Following
this event, the state health minister announced a budget for rare diseases in
the state budget session this March.
- Rajasimha, H., Shirol, P., Ramamoorthy, P., Hegde, M., Barde, S., et al., (2014). Organization for rare diseases India (ORDI) - addressing the challenges and opportunities for the Indian rare diseases' community. Genetics Research, Cambridge Press (2014), vol. 96, e009.doi:10.1017/S0016672314000111