First Digital Platform for Rare Diseases in India

First Digital Platform for Rare Diseases in India

by Namitha Kumar on Mar 31 2018 4:12 PM
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  • Seventy million children and adults suffer from a rare disease in India
  • The idea of an Open Platform for Rare Diseases (OPFORD) is to provide quality, verified information and support for rare diseases
  • Connecting 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 disease 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.

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.

What 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.

Eighty 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 interventional measures.

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.

  1. Open Platform For Rare Diseases - (