A rare disease is a health problem that occurs occasionally and affects a limited number of individuals. This category includes genetic disorders, uncommon cancers, infectious diseases, and degenerative conditions. Only 5% of the more than 7,000 recognized diseases globally have effective treatments available. In India, less than half of the approximately 450 recognized rare diseases are curable. Most patients often receive only basic care that helps manage symptoms. Some treatments for rare diseases involve extremely expensive drugs and supportive therapies, making affordability a significant concern. Pharmaceutical companies often overlook rare diseases as a viable market due to the small number of patients affected by each condition. As a result, these diseases are labeled as ‘orphan diseases,’ and the associated drugs are called ‘orphan drugs.’ In India, it typically takes an average of seven years to diagnose a rare disease. Delay or misdiagnosis can greatly increase the suffering of patients. The lack of trained health professionals to recognize early symptoms of rare diseases further complicates the situation in India.
Rare diseases are conditions that affect a small segment of the population, yet they collectively affect over 70 million people in India. The National Policy for Rare Diseases 2021 seeks to address the challenges associated with their treatment, but financial limitations remain a significant barrier. With treatment costs ranging from ₹10 lakh to ₹16 crore per patient every year, inadequate funding mechanisms make it difficult for patients to access the necessary care, further adding to their suffering.
Most rare diseases have a genetic basis and often cause serious, chronic health problems. Many lack proper diagnostic methods or treatment protocols, and existing treatments typically only manage symptoms rather than provide a cure. In India, as in many developing countries, there is no universally accepted definition of rare diseases. The burden of rare diseases in India is very high, accounting for about one-third of the global patient population. The National Policy for Rare Diseases suggests that about 50-100 million individuals in India are affected by these conditions. There are over 450 recognized rare diseases in the country, including well-known conditions such as spinal muscular atrophy and Gaucher disease. About 80-100 million Indians suffer from rare diseases, of which more than 75% are children. The high rates of morbidity and mortality associated with these serious conditions are a major reason why many of these children do not survive to adulthood.
One-time funding of ₹50 lakh per patient is insufficient for lifelong management of chronic rare diseases, resulting in treatment discontinuation. Although ₹143.19 crore has been allocated to 12 Centres of Excellence, delays in fund disbursement hinder access to essential treatments. Some Centers of Excellence have delayed using funds effectively, delaying enzyme replacement therapy for patients with Gaucher disease, despite its established benefits. Ultra-rare conditions such as acid sphingomyelinase deficiency are not covered in 2021, leaving eligible patients without financial support.
In India, patients with acid sphingomyelinase deficiency are without government support, even though clinically approved treatments are available. There is no oversight to monitor fund use and provide timely treatment. Implementation of initiatives supported by Parliament is delayed, leaving patients with lysosomal storage disorders suffering without the necessary support. Long approval processes and poor inter-agency coordination lead to hindrances in treatment. Patients waiting for funds from crowdfunding portals often face delays due to unclear eligibility criteria and procedural hurdles. The National Rare Diseases Policy 2021 relies on one-time grants rather than a sustainable funding model, making ongoing treatments unviable. Patients with lysosomal storage disorders require lifelong enzyme replacement therapy, but policy provisions phase out funding after ₹50 lakh.
The National Rare Diseases Policy 2021 covers less than half of the more than 450 rare diseases, leaving many patients without any support. Conditions such as Pompe and Fabry disease, which have effective treatments available, are not fully covered by the policy. The absence of performance audits leads to ineffective implementation and underutilization of funds at centers of excellence. These centers have been slow to provide transparent fund disbursement, resulting in severe delays for patients with lysosomal storage disorders. Both doctors and patients often lack information about available treatments and financing options, which hinders outreach efforts. Many families who qualify for National Rare Diseases Policy 2021 benefits are not aware of these, resulting in low enrollment rates at centers. The lack of a centralized database leads to miscalculations of patient outcomes and slow policy responses. A national registry can effectively monitor real-time treatment needs, facilitating better fund disbursement and timely policy adjustments.
It is essential to create a permanent government fund of over ₹50 lakh per patient to cover lifetime treatment expenses. Countries such as Germany and the UK have set up special funds for rare diseases, ensuring continuous patient care. We should use corporate social responsibility funding, partnerships with pharmaceutical companies, and crowdfunding efforts to augment government resources. For example, Novartis’ corporate social responsibility initiative in India has provided support to spinal muscular atrophy patients requiring expensive gene therapy. It is important to expand Ayushman Bharat and state insurance programs to include lifetime treatment for rare diseases. Additionally, a digital platform should be developed to monitor fund utilization, track patient treatment progress, and ensure accountability of the CoE. Implementing a blockchain-based tracking system can guarantee transparent fund distribution without bureaucratic hurdles.
Accelerate the ₹974 crore initiative to ensure prompt diagnosis, affordable treatment, and better infrastructure. Fast-tracking this program can greatly benefit thousands of untreated patients and help reduce child mortality. A holistic rare disease policy must move beyond mere intentions and focus on effective execution. Sustainable financing combining government support, corporate social responsibility efforts, and public-private partnerships is essential. Simplifying administrative processes, enhancing early diagnosis, and broadening insurance coverage will make treatment more accessible. A patient-centric approach supported by strong institutional frameworks is crucial to address the challenges faced by rare disease patients in India.
Healthcare professionals need training to enhance their diagnostic accuracy. Pregnant mothers with a family history of rare diseases should undergo mandatory prenatal screening and postnatal care. The government should establish a clear definition of rare diseases, increase budget allocations, allocate funds for drug development and therapies, and expand the number of centers of excellence. These steps will strengthen the National Policy on Rare Diseases 2021. Both the public and private sectors should get involved in funding social support programs for rare diseases through CSR initiatives and funding collaborations. Additionally, removing GST from all life-saving drugs for rare diseases will help make these drugs more affordable.
