Early diagnosis, affordability of treatment continue to remain hurdles in tackling rare diseases in India

Treatment for rare diseases is often very expensive. Photograph used for representational purposes only
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Rare Diseases are defined as those that affect a small number of individuals: fewer than 1 in 2,000 people. They are often chronic, debilitating and at times life threatening, and require long-term and specialised treatment. With more than 7,000 types of rare diseases in existence, the burden, globally, is immense. To date approximately 400 million people live with a rare disease.

Rare diseases are more often than not a neglected and marginalised group of diseases. About 80% of rare diseases have a genetic cause. About 50-70% are seen in children, and, in many cases, lack approved therapy for management. In 2021, the United Nations rolled out the first resolution addressing the problems of people with rare diseases and families, calling on member states to provide access to safe and affordable healthcare.

The burden in India

India contributes to one-third of the global burden of rare diseases with about 70 million estimated to be affected. The average time of accurate diagnosis is anywhere between 4.8 to 7 years, with 30% of affected children dying before the age of 5. Under the aegis of the National Policy for Rare Diseases 2021, 12 Centres of Excellence (COE) and five NIDAN Kendra were identified by the Union Ministry of Health and Family Welfare’s Department of Biotechnology for diagnosis, genetic testing, genetic counselling, prevention, treatment and education at all levels, on rare diseases. Financial support of up to ₹50 lakh is available to patients suffering from all categories of rare diseases for treatment in any COE. The Institute of Child Health (ICH) and Hospital for Children, Egmore in Chennai, is one of the COEs in Tamil Nadu

Advances in genetic technologies like Next Generation Sequencing (NGS) have made diagnosing rare diseases more accessible than before. Precision medicine ,including enzyme replacement therapies, gene therapies and gene editing is transforming treatment options. Orphan drugs with regulatory concessions ensure faster approvals and easier access for patients. Drug repurposing is also opening up new possibilities, giving existing medications a fresh role in rare disease management.

All these positive developments give hope to families with affected patients. However there are still many challenges to be overcome.

The path ahead

Achieving the correct and early diagnosis is difficult, contributed to by poor knowledge amongst patients and healthcare professionals of the typical signs and symptoms of these diseases. Treatment is often very expensive and affordability is a huge obstacle faced particularly in middle-income and low-income countries. Parents and caregivers of children with rare diseases face a tremendous burden. Their problems include insufficient information and few treatment and management options and even if treatment is available, there is a high cost involved . Repeated hospital visits needed for the patient may also cause an additional financial burden.

People with rare diseases are often stigmatised and face social discrimination. In addition to this, they have accessibility problems in schools and at workplaces, making everyday routine activities challenging.

The need of the hour is to provide early and correct diagnosis as well as effective and affordable treatment. Other areas to be focussed on include increasing awareness about rare diseases amongst the general public, particularly in creating inclusive work environments, and supportive and sustainable ecosystems.

(Dr Kalpana Gowrishankar is a Consultant Clinical Geneticist at Apollo Hospitals, Chennai. [email protected])