Rare diseases: Small numbers, huge burden
The lack of awareness among patients, physicians, clinical researchers and the general public continues to be one of the biggest hindrances in developing treatments and therapies
Medical advancements in the past few decades have brought tremendous positive changes in health outcomes. However, treatments for rare diseases have failed to advance at the same pace. It is said that more than 300 million people across the world are affected by over 7,000 rare diseases. These only include the ones which have been discovered. Further, there are thousands of people living with rare diseases without proper diagnosis, let alone treatment. As we move towards observing Rare Disease Day on February 28, it is essential to bring the discussion about rare diseases into public discourse.
A rare disease, as the term implies, is any condition that affects a small fraction of the population. There is often a lack of a large enough market to garner support and resources for developing treatments. There is no single definition for rare diseases. The parameters for the definition vary depending on the country. As of yet, no definition has been set in India, but attempts have been taken to identify the scope of prevalence and define one that is best suited for the country. Most rare diseases are genetic.
The lack of awareness among patients, physicians, clinical researchers and the general public continues to be one of the biggest hindrances in developing treatments and therapies for these diseases. Awareness among the general public is essential for early diagnosis and timely treatment. The inability to diagnose is also a consequence of the lack of importance given to these diseases. Most physicians don’t receive any training in rare diseases during their studies. Lack of awareness and training translates to incapacity to help out people with rare diseases.
The Indian context
Out of 7,000 rare diseases identified across the globe, 450 have been found in the Indian population. Due to the lack of epidemiological data in the country, it has so far been difficult to arrive at an estimation of the number of persons suffering from these diseases. Like most parts of the world, the higher cost of diagnosis and treatment is another significant challenge in the rare disease sphere in India.
In 2017, under orders from the Delhi High Court, the Union government came up with a policy for the treatment of rare diseases. It was revised in 2021. The policy has three major aims — increasing the focus on indigenous research, lowering the cost of treatment of rare diseases, and catching rare diseases at early stages. It further divides rare diseases into three categories in accordance with the current treatment available for them. Financial support up to ₹20 lakh under the Umbrella Scheme of Rashtriya Arogya Nidhi is available to the first group. It is left to the state governments to decide if they want to fund treatment for the second group and no support is provided to the third group.
Only eight health care facilities in the whole country have been designated as “Centres of Excellence” for the prevention and treatment of these diseases. A provision of a one-time grant of ₹5 crores is made for these centres. This is grossly inadequate taking into account the expensive machinery used for these diseases. However, the machinery purchased for genetic studies of these diseases is turning out to be quite useful for the population at large. For instance, the next-generation sequencing machine (NGS) used in genetic sequencing is being used for coronavirus sequencing and personalised medicine.
The policy also talks about a national hospital-based registry of rare diseases to ensure the availability of adequate data and comprehensive definitions for those interested in research and development. Even after a year of the policy roll-out, the registry has not been set up. In 2019, the Insurance Regulatory and Development Authority (IRDA) of India made genetic diseases non-excludable from insurance coverage. This has provided some relief to patients with rare diseases.
The need for special attention
Rare diseases require more consideration because of special circumstances. Affordable diagnosis and treatments will never be available for such diseases. It is not economically viable for companies to allocate resources for disease with such a small number of patients. This will not improve unless the government intervenes and provides incentives for companies. Countries such as the United States did something similar with the Orphan Drug Act, providing companies tax breaks and relaxed clinical trial regulations to get more therapeutics for rare diseases. The case is quite opposite in India, where a drug for spinal muscular dystrophy called Zolgensma had an added GST and import duty of ₹6 crore over its exorbitant ₹16 crore cost. Expensive drugs such as Zolgensma had the added GST and import duty removed last year. There is a need to remove the added tax burden from all the therapies directed at rare diseases. They are already out of reach of the common man and this added cost makes them more inaccessible.
Ideally, the government should cover the entire cost for such diseases due to the unique circumstances surrounding them. However, there are certain things we can do if the government is unwilling to commit to cover the cost. Setting up the 100 crore fund, initially promised by the government can be the first step. This will go a long way in improving patients’ access to treatment. There is a tradeoff that is made when we allocate money to a select few that can be used for the betterment of a larger population. It also has to be taken into consideration that diagnosing and treating these diseases will help in broadening our understanding of other diseases. This will also help us move towards personalised medicine.
More focus has to be put on preventive strategies. Testing and counselling for those at high risk is also a must. Proper integration of genetic and rare disease curriculum into the medical syllabus is essential for prevention and early diagnosis. Tax breaks, institutions and companies' grants, making it financially viable to research, developing and manufacturing drugs for these diseases are essential steps. It also makes more sense to reduce requirements for clinical trials given the low numbers and high cost of development.
The country needs to take a robust and transformational approach to better treat and manage people suffering from rare diseases. The Union government has to allocate sufficient resources for successfully reducing the rare disease burden.
Mahek Nankani is an assistant programme Manager, Takshashila Institution
Harshit Kukreja is a research analyst, Takshashila Institution
The views expressed are personal