Need to create awareness to combat rare genetic disorders

The Indian healthcare sector faces a major challenge as patients suffering from rare diseases often go unnoticed. Yet, as Praveen Gupta, Managing Director of Premas Life Sciences, emphasises, rare diseases and patients do count.

Too Rare for Research?

Rare disease patients in India face significant delays in diagnosis and often receive minimal treatment. While these conditions affect a small percentage of the population, India’s large population means over 75 million people suffer from rare disorders.

The healthcare system struggles with low awareness among professionals, policymakers, and the community, resulting in inadequate care, delayed treatment, and high economic and health costs for affected patients.

Understanding Rare Diseases

Also called orphan diseases, rare diseases typically have a low prevalence and are often genetic in nature. Mutations in specific genes can lead to recurrence within families, making early diagnosis and timely intervention crucial. Most rare diseases are severe, degenerative, and life-threatening, with many manifesting during childhood.

Families often consult multiple healthcare providers over long periods without success, which contributes to delayed treatment and worsening clinical conditions. Treatment costs remain high, making awareness campaigns and government intervention essential.

Raising Awareness and Early Intervention

Focused awareness initiatives are critical to improve early detection, treatment access, and patient care. Government and private organizations must boost research funding, promote genetic testing, and lower treatment costs.

Current efforts, such as the Genomics for Understanding Rare Diseases India Alliance Network (GUARDIAN), aim to enhance understanding, reduce diagnostic costs, and improve treatment outcomes.

Advances in Diagnosis and Treatment

• Molecular testing is available for some genetic disorders.
• Prenatal diagnostic tests can identify affected fetuses as early as 11 weeks of gestation.
• Timely access to treatment significantly improves the quality of life and life expectancy for children with severe genetic disorders.

However, rehabilitation facilities remain limited and often inaccessible, and rare diseases are largely outside the mainstream healthcare system in India.

Collaborative Efforts for Rare Disease Management

Generating awareness is the first step toward early diagnosis and effective management. Promoting education among researchers, healthcare professionals, and patient groups can encourage funding, attract pharmaceutical interest, and enhance scientific research.

Celebrity endorsements and public campaigns can also play a role in raising awareness about rare diseases.

Experts agree that government policies must support:

• Development of advanced diagnostic tools
• Promotion of research in genetic disorders
• Collaboration between NGOs, patient groups, and medical institutions

By combining scientific advances, awareness campaigns, and public-private collaborations, India can improve the prevention, diagnosis, and treatment of rare genetic disorders, ultimately benefiting millions of affected patients.