- Seventy million
children and adults suffer from a rare disease
- The idea of an
Open Platform for Rare Diseases (OPFORD) is to provide quality,
verified information and support for rare diseases
patients to resources like doctors, clinical geneticists, treatment
centers and patient groups enable and empower patients and their families
Open Platform for Rare Diseases (OPFORD) was an idea
conceived at the Centre for Health Ecologies (CHET), Bangalore and executed by
Strand Life Foundation (SLF), Bangalore. After observing the plight of the rare
disease patients and families who reached out to CHET for help and support and
often ran around just to get basic information; it was decided that the first
step to enable and empower these patients was to help them
access the right information at the right time. Rare
patients and families in India needed a one-stop digital
space, where they could access information on specific diseases,
diagnostics, therapeutics, curatives, clinical trial information, list of
doctors, clinical geneticists, treatment centers and patient support groups.
OPFORD stepped in to fill this gap and meet the needs of patients and families.
With knowledge as power, rare disease patients and families can take quicker
decisions, strategize treatment plans and empower themselves with the latest
clinical updates, hacks and research information.
In India, medical education has little focus on genetics and
rare diseases. This means that clinicians are not empowered with sufficient
knowledge to be able to quickly diagnose and support rare disease patients.
Clinicians, as well as, researchers require a one-stop resource
like disease specific articles, research updates and journal papers. OPFORD
intends to empower clinicians and researchers by curating and indexing the
latest information, articles, journal papers and research updates on rare
diseases. This resource can enable the clinicians to empower their patients
with latest-in-line drugs and treatment options.
‘The Open Platform for Rare Diseases (OPFORD) was unveiled by Dr. Kiran Mazumdar-Shaw on 14th March 2018 at the Blue Ribbon Rare Disease Symposium hosted by the Centre for Health Ecologies and Technology (CHET) in Bangalore. OPFORD seeks to connect rare disease patients and families with accurate, verified information support.’
OPFORD was unveiled by Dr. Kiran Mazumdar-Shaw, Biocon Chief
at the Blue Ribbon Rare Disease Symposium hosted by CHET at the National
Gallery of Modern Art Bengaluru on 14 March 2018. The platform was unveiled in
the presence of government dignitaries like Dr. Swatantra Kumar Banakar, Deputy
Director, State Blood Cell - Karnataka. The platform is currently a
work-in-progress and will soon be populated with informative, verified content
about rare diseases, doctors lists, treatment centers and hospitals, blood
banks, patient groups list and resources for patients, families, clinicians and
researchers. The platform provides the latest news, videos and policies about
rare diseases in India. It will soon allow crowdsourcing of content to create a robust
information repository for rare diseases in India. Patients or clinicians can
get in touch for any additional help and support or information.
OPFORD is the first digital platform in India to bring
together rare disease resources and the platform is modeled on the example of
OpenPediatrics (developed and maintained by Boston Children's Hospital). OPFORD
will also go beyond the digital to provide care coordination, genetic counselling
and support and also
develop genetic literacy programs for the Indian public. OPFORD was
well-received by the audience at the symposium and appreciated by Dr. Kiran
Mazumdar-Shaw who went on to tweet about the platform.
are Rare Diseases?
Rare diseases as the name implies are rare conditions
affecting a small number of people. While each rare disease may have small
numbers, together almost 350 million people across the globe suffer from some
form of a rare disease. In India, nearly 70 million children and adults have a
rare disease. The prevalence of rare diseases in the Indian population is 7.5
out of 10,000. Rare diseases include autoimmune condition and rare cancers.
percent of all rare diseases are genetic in origin. Nearly fifty percent of those affected are children of which thirty percent will not live beyond the age of 5. In India, lack of
multidisciplinary centers, issues of access and dire poverty; it takes nearly
7-8 years to diagnose a rare condition by which time it is too late to take
Lack of multidisciplinary centers to provide diagnostic and
treatment support adds up to the woes of patients and families. More often than
not, clinicians themselves are not familiar with rare diseases and a patient
may see around 6-7 doctors before they finally get diagnosed. Apart from a long
diagnostic odyssey, treatment and drugs are often so expensive and prohibitive
that even middle class families cannot afford it. Ill-equipped government
hospitals and treatment centers are unable to provide even basic therapeutic
support for rare diseases. Non-existent health insurance for rare, genetic disorders
and public health system failures
leave rare disease patients dependent on pharma charity access programs. Enzyme
Replacement Therapies (ERTs) for rare disease groups like the lysosomal storage disorders
(LSDs) range from 1 crore to 4 crores per patient annually. Currently, patients
with Gaucher, Pompe and Fabry are surviving on Sanofi Genzyme's charity access
program which ensures regular supply of ERTs.
The National Policy for Treatment of Rare Diseases 2017
earmarked a corpus fund of 100 crores for treatment of such rare diseases.
However, this is a one-time fund and it is not clear how many patients can be
supported and sustained on a limited fund. Clearly, India needs a better model
of healthcare finance and treatment for its rare disease population.
- Open Platform For Rare Diseases - (http://opford.org/)