By Prasanna Kumar B Shirol,
Co-founder & Executive Director, ORDI.
Challenges by patients
Most patients with rare diseases remain undiagnosed for a long period of time. Average time to diagnose a rare disease is around 7 years. During this time, patients experience a variety of symptoms, health issues, anxiety, trying a variety of laboratory tests and visiting numerous doctors and hospitals. It is important to put an end to this diagnostic odyssey. When a patient receives proper diagnosis, the patient can move to the next phase of disease management - looking for treatment options, lifestyle changes, etc. There are over 7000 rare diseases globally and about 450 of them have been reported in India. About 700 treatments are approved by the US FDA, EU EMA or Japan's PMDA. Most of them are expensive and unaffordable to the general population. Insurance policies generally do not cover these ongoing (life long) treatment expenses.
Policies taken by the government
India, with an estimate of over 70 million people affected with rare diseases had remained without a public health policy to address challenges faced by the rare diseases community. Some of the key opinion leaders came together in 2014 to review and publish a peer-reviewed article summarizing the key challenges and opportunities for India (Genetics Research; Cambridge Journals; 2014: Challenges and opportunities for rare diseases community in India).
Thanks to numerous efforts, court decisions, grass-roots awareness campaigns and other initiatives around the nation in the last four years, India now has a central policy around rare diseases. The GOI RD policy (see attached PDF) takes a two-pronged approach one short-term focused and another keeping a long-term vision. The short-term sets aside a central corpus fund for rare diseases treatment and advises state governments to set aside a matching fund as health is still a state level issue. In general, government is supportive of free treatment of patients with rare diseases where one is available in India. Several high courts decisions in the last few years have favored patients directing government hospitals to provide free treatments. The policy notes the difficulty in accurately defining a rare disease in Indian context as prevalence and incidence data is not available. Hence, the policy calls for registries of rare diseases and patients to better understand the public health burden to further guide policy amendments, investments and priorities for research and development.
Incidence of rare diseases globally and specific to India
There are an estimated over 350 million patients affected by about 7000 known rare diseases. New diseases are discovered each year and added to the databases such as Orphanet database maintained by the European Union. There is no universal definition of rare disease but the importance of having a consistent definition across each country is well acknowledged. Having and adopting a standard definition of rare disease is a pre-requisite for public policy development. Due to lack of definition and more importantly, due to lack of diagnostic infrastructure and systematic data collection systems in India, we do not yet have accurate statistics on the incidence or prevalence of rare diseases. About 80% of all rare diseases are genetic in origin, most of them monogeneic. Half of the rare diseases are early onset childhood diseases. Rough conservative estimates indicate over 70 million people in India are affected by rare diseases many of whom may still not have a diagnosis. The US National Institutes of Health initiatives such as the Undiagnosed Diseases Network (UDN) and the international rare diseases research consortium (IRDiRC) aim to address this challenge by accelerating the speed of diagnosis. The goal is to bring the average time to diagnosis down to one year.
Measures taken by foreign countries in terms of policies for rare disease patients
The Orphan Drugs Act (ODA) of 1983 in the United States marked the most significant milestone in shaping rare disease policies around the world. ODA offers significant tax and other incentives to companies investing in research and development of treatments for rare diseases (A disease is rare in US if it affects fewer than 200,000 Americans). Incentives include 7 years of market exclusivity for orphan drugs by FDA, tax deductions for R&D investments on orphan drugs R&D, among others. Several European countries, Japan and others have adopted policies over the last 35 years - but the adoption has been far and few in some of the most populous countries such as China and India. It is a matter of pride that India has now joined this elite club of countries with a national policy in place.
Changes GST has brought
Before GST implementation - under the Customs law, as per notification 12/ 2012 dated 17th March 2012, Central Government had notified a list of life saving drugs which were exempt from payment of customs duty and any additional duty paid thereon. With the implementation of GSTN, the structure of Customs Duty also changed IGST Duty was not exempted resulting in the goods now falling under IGST Notification 01/17 schedule II Sl. No. 63 levying a duty of12% on the assessable value of the drugs even though these are billed at NIL value.
Based on the request of ORDI and LSDSS GST is now exempted.
Support expected from the Government in terms of actual benefits for patients
On behalf of all patients and stakeholders of rare diseases in India, Here is ORDI's wishlist:
- State governments need to wholeheartedly support the central government's guidance on rare disease policy, budget, etc. Karnataka is emerging as a models state in this regard with the establishment of a rare disease care center of excellence at the Indira Gandhi Institute for Child Health (IGICH).
- Free treatment for all affected by rare diseases - when treatments are available
- Health insurance schemes in India should be mandated to cover genetic diseases and pre-existing conditions that may be inherited.
- Significant investment and emphasis on rare diseases research, diagnostics, treatments, and education of doctors, nurses. Medical Council of India (MCI) added genetics course into MBBS but more change in curriculum is necessary to include enough emphasis on genetic diseases.Higher education (MD and DM) curriculum also needs development with this focus.
- There is a severe dearth of high quality degree programs in genetic counseling in India - with the widespread use of next-generation DNA sequencing technologies in the Indian clinical settings, its extremely critical to build a strong workforce in genetics and counseling for patients and general public in preventive care. Especially, the high risks of producing the next generation of babies with rare genetic diseases due to the practice of marrying cousins within the family.
- 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.
- Government of India should make new born screening mandatory for all treatable diseases across all states. Currently, there is no national new born screening program in India. The US states screen all new born babies for 58 diseases before discharging babies from the neonatal units.
Government of India should make gene therapies as a priority area of research since most monogenic rare diseases can be treated by potentially correcting the genetic defect by gene therapies. R&D in this area in India can ensure resulting therapies are affordable to Indian population. Some early successes in gene therapy in US and EU are unaffordable for >99% of the population without government or insurance coverage.