Government releases a draft policy for ‘Rare Diseases’ and launches a ‘Crowdfunding Platform’ for treatment costs
Sai Krishna Muthyanolla
August 7, 2021
The Union Government recently released the ‘Draft National Policy for Rare Diseases, 2021’. There is very little information & data about the prevalence of rare diseases and even a standard definition is lacking. The government also launched a ‘Crowdfunding’ platform for the treatment of children suffering from rare diseases.
Rare diseases have received worldwide attention in recent days. In India, a 13-month-old Vedika Shinde’s deteriorating health condition from a rare disease had drawn worldwide support. Vedika suffered from Spinal Muscular Atrophy (SMA), a rare disease that occurs due to a single missing gene and results in progressive muscle wasting. After raising money from various crowdfunding platforms, she was administered the world’s costliest injection at Rs. 16 crores. However, the child did not survive. News reports of children from different parts of the country suffering from rare diseases like Gaucher’s disease, Muscular Atrophy, etc. have surfaced more frequently in recent times.
In the light of recent cases of rare diseases among children and pursuant to the Delhi high court’s order to notify a dedicated online ‘Crowd Funding’ platform for collecting funds for the treatment of children suffering from rare diseases, the Union Government informed the Delhi High Court on 04 August 2021 that it has set up and made operational an online crowdfunding platform (https://rarediseases.nhp.gov.in/) for collecting funds for treatment of children suffering from rare diseases under the newly released Draft National Policy for Rare Diseases, 2021.
No fixed definition of rare diseases
The draft policy recognises the varying definitions of rare diseases. The WHO defines a rare disease as often debilitating lifelong disease or disorder with a prevalence of 1 or less, per 1000 population. However, different countries have their own definitions to suit their specific requirements and in the context of their own population, the health care system and resources. In the US, rare diseases are defined as a disease or condition that affects fewer than 200,000 patients in the country (6.4 in 10,000 people).
At the same time, it has been contested that disease prevalence alone may also not be an accurate basis for defining rare diseases, as it does not consider changes in population over time. Therefore, a more reliable approach to arriving at a definition could be based on the factors of –
India lacks epidemiological data on the incidence and prevalence of rare diseases
The policy highlights that the data on how many people suffer from different diseases that are considered rare globally is lacking in India. The lack of epidemiological data on the incidence and prevalence of rare diseases impedes understanding of the extent of the burden of rare diseases and the development of a definition. It also hampers efforts to arrive at the correct estimation of the number of persons suffering from these diseases and describe their associated morbidity and mortality. In such a scenario, the economic burden of most rare diseases is unknown and cannot be adequately estimated from the existing datasets.
To overcome this, a hospital-based National Registry for Rare Diseases has been initiated by ICMR by involving centres across the country that are involved in the diagnosis and management of Rare Diseases. This is expected to yield much-needed epidemiological data for rare diseases in the Indian context.
Only a limited number of diseases have been recorded in India from tertiary care hospitals that are globally considered as rare diseases encompassing 7000-8000 disorders. The commonly reported such diseases include Primary immunodeficiency disorders, Lysosomal storage disorders (Gaucher’s disease, Mucopolysaccharidoses, Pompe disease, Fabry disease, etc.). Till the time appropriate data is available and the country arrives at a definition of a rare disease, the term rare diseases, for the purpose of the policy, constitutes the following groups of disorders identified and categorized by experts based on their clinical experience:
Group 1: Disorders amenable to one-time curative treatment.
This group includes disorders amenable to treatment with Hematopoietic Stem Cell Transplantation such as Lysosomal Storage Disorders, Adrenoleukodystrophy, etc., and disorders amenable to organ transplantation such as Tyrosinemia, Fabry disease, etc.
Group 2: Diseases requiring long-term / lifelong treatment having a relatively lower cost of treatment and benefit has been documented in the literature and annual or more frequent surveillance is required.
This group includes Phenylketonuria, Maple Syrup Urine Disorder, Tyrosinemia type 1 and 2¸ Homocystinuria, etc.
Group 3: Diseases for which definitive treatment is available but challenges are to make an optimal patient selection for benefit, high cost, and lifelong therapy.
This group includes Gaucher Disease, Hurler Syndrome, Cystic Fibrosis, Duchenne Muscular Dystrophy, etc.
Centre notifies 8 Centres of Excellence for screening, diagnosis, and prevention of rare diseases
The policy envisions that Central Government will work with the State governments to build the capacity of health professionals at various levels. The Centres of Excellence (CoEs) would develop Standard Operating Protocols to be used at various levels of care for patients with rare diseases to improve early diagnosis, better care coordination and quality of life. To begin with, the following institutes would be notified as Centres of Excellence for Rare Diseases.
The policy also gives importance to prevention of genetic disorders at multiple levels. Prevention strategy focuses on avoiding the birth of affected fetus (prenatal screening and prenatal diagnosis), early detection of the disorders, appropriate medical intervention to ameliorate or minimize the manifestations (newborn screening). The proposed COEs are to be given one-time financial support up to a ceiling of Rs. 5 crores for procurement of equipment as per individual centres need for strengthening patient care services for screening, diagnosis, and prevention (prenatal diagnosis) of rare diseases.
A dedicated crowdfunding platform to be established, indigenous production of drugs to be encouraged
Keeping in view the resource constraint and competing for health priorities, the policy lays the ground for a digital platform (crowdfunding platform) for bringing together notified hospitals where such patients are receiving treatment or come for treatment, on the one hand, and prospective individual or corporate donors willing to support treatment of such patients, on the other hand. The notified hospitals will share information relating to the patients, diseases from which they are suffering, estimated cost of treatment and details of bank accounts for donation/contribution through an online system. Donors will be able to view the details of patients and donate funds to a particular hospital. According to the policy, the treatment cost of the patient will be the first charge on this fund. Any leftover fund after meeting treatment costs can be utilized for research purposes also. The Union Government has launched the dedicated crowdfunding platform recently. This can be accessed at https://rarediseases.nhp.gov.in/
This will enable donors from various sections of the society to donate funds. Ministry of Corporate Affairs is to be requested to encourage PSUs (Public Sector Units) and corporate houses to contribute as per the Companies Act as well as the provisions of the Companies (Corporate Social Responsibility Policy) Rules, 2014 (CSR Rules).
Apart from the creation of a digital crowdfunding platform, the following initiatives shall be taken for patients of rare diseases:
To increase the affordability of drugs related to rare diseases, the policy also provisions the following:
Numerous challenges and need for further R&D
The policy underscores the need for further research to better understand the extent of the existing diversity of definitions for rare diseases and to examine the scope of arriving at a definition. This is to be done on a priority basis as soon as sufficient data is available. Rare diseases also place a major economic burden on any country and especially in resource-constrained settings. Therefore, there is a need to consider the context of the available scarce resources and the need for their utmost judicious utilization for maximizing the overall health outcomes.
The policy acknowledges that there is a lack of awareness about rare diseases in the general public as well as in the medical fraternity. According to a Report on Rare Disease Impact, it takes patients in the United States (US) an average of 7.6 years and patients in the United Kingdom (UK) an average of 5.6 years to receive an accurate diagnosis, typically involving as many as eight physicians (four primary care and four specialists). In addition, two to three misdiagnoses are typical before arriving at a final diagnosis.  Therefore, there is an immediate need to create awareness amongst the general public, patients & their families and doctors, training doctors for early and accurate diagnosis, standardization of diagnostic modalities and development of newer diagnostic and therapeutic tools.
Apart from the above, the policy highlights the following challenges in the treatment of rare diseases:
Global experience with rare diseases
Globally, the number of countries with a National Rare Disease Plans (NRDP) or Orphan Drug Policy (ODP) has grown rapidly in the last decade. An orphan drug can be defined as any medicinal product intended for a rare disease or a disease with no existing satisfactory method of diagnosis, prevention, or treatment. The US Orphan Drug Act of 1983 served as a key milestone in this journey, providing a roadmap for other countries to introduce and implement similar orphan drug legislation. More recently, the European Union (EU) has gone further to encourage the widespread adoption and implementation of rare disease plans or strategies designed to address the comprehensive needs of patients with rare diseases.
Several studies point to disparities in national policy, incentives that encourage market availability, and incentives that encourage research and development across geographical locations and income levels.
A study of national policies for rare diseases in 11 countries highlighted that despite legislative efforts and the growing contributions of patient advocacy, gaps still exist across the policy landscape for several countries.  In general, countries that had higher healthcare spending and GNI per capita, as well as national healthcare delivery systems (like France and Germany), also had well-developed national plans for the rare disease that encompass early access to treatments, funding for orphan drug access, diagnosis programs, coordinated care, and strong research initiatives. Countries that were lesser developed and/or had low healthcare spending and GNI per capita were more likely to have National Rare Disease Plans (NRDP) that were not endorsed or implemented.
While there are gaps across the policy landscape for several countries, there is a paucity of literature and evidence-based research to demonstrate the effect of specific policies/plans on patient outcomes. Hopefully, the draft policy of the Union Health Ministry may be the first step in this direction in India.
Featured Image: Draft Policy for Rare Diseases