India’s fight against rare diseases

Context:

• The tragic death of 19-year-old child actress Suhani Bhatnagar from dermatomyositis sheds light on Rare Disease Day, highlighting the plight of millions who suffer from neglected and stigmatised rare medical conditions.

Neglect of Rare Diseases in India:

• How big is the problem? India accounts for one-third of global rare disease cases, with over 450 identified diseases affecting approximately 8 to 10 crore Indians, predominantly children.
• Challenges: Despite the significant burden, rare diseases are largely overlooked in India, with challenges in awareness, diagnosis, and drug development.
• Absence of definition: The absence of a standard definition for rare diseases and policy inconsistencies hinder effective management and treatment, exacerbating the suffering of patients and their families.

Challenges in Diagnosis and Treatment:

• Lack of awareness: Timely diagnosis of rare diseases is often delayed, taking an average of seven years, due to lack of awareness among healthcare professionals.
• Lack of treatment: Less than 50% of identified rare diseases in India are treatable, with limited availability of approved therapies and uneven distribution of treatment centers.
• Lack of funding: Inadequate budgetary allocation and funding constraints further impede access to treatment, with financial assistance falling short of addressing the lifelong management needs of patients.

Urgent Need for Government Action:

• Proper definition: The government must establish a standard definition of rare diseases, increase budgetary allocations, and enhance funding for drug development and therapy.
• Effective treatment and collaboration: Expansion of treatment centers, improved fund utilization, and collaboration with public and private sectors are crucial to address the challenges.
• Other measures: Additionally, measures such as incentivising domestic drug manufacturing, reducing clinical trial requirements, and exempting life-saving drugs from GST are essential to ensure affordability and accessibility for rare disease patients.