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).

The Draft Framework and 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 (CHET), Bangalore.

The document was framed considering EU's recommendation on the action for rare diseases which includes the following strategies:

• Prevention, diagnosis and screening
• Access to treatment
• Multidisciplinary care
• Research
• Access to information and support

The draft focuses on the following key points, which include:

• Evolving a suitable definition and classification of rare diseases for India.
• Identification, 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.
• Treatment 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. 

References :

1. http://rareadvocates.org/rare-disease-acts-of-2002/
2. http://www.eurordis.org/content/overview-national-rare-disease-policies
3. http://rarediseases.org/
4. http://ordindia.org/
5. 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

Source: Medindia