UMMID (Unique Methods of Management of Inherited Disorders) Programme

Syllabus: GS2/ Health

Context

• The Union Minister for Science and Technology dedicated the UMMID (Unique Methods of Management of Inherited Disorders) Programme for Rare Genetic Disorders to the nation.

About the UMMID Programme

• It is an initiative of the Department of Biotechnology (DBT) aimed at improving diagnosis and management of rare genetic disorders in India.
• The programme seeks to make diagnosis, screening and counselling for inherited disorders more affordable, accessible and widely available.
• The initiative also supports clinician training and institutional capacity-building in genetic healthcare.
• The government launched the UMMID Dashboard and released the UMMID Compendium to strengthen nationwide monitoring, diagnostics and outreach services.

What are Rare Genetic Disorders?

• Rare genetic disorders are diseases that occur due to abnormalities or mutations in genes or chromosomes.
• Rare genetic disorders are generally inherited from parents and may affect physical, neurological, metabolic or developmental functions.
• Although each individual disorder affects a small number of people, collectively rare diseases impose a major public health burden worldwide.
• Causes of Rare Genetic Disorders: 
  • Inherited mutations in genes are one of the major causes of rare genetic disorders.
  • Chromosomal abnormalities can lead to developmental and inherited disorders.
• Examples:
  • Sickle Cell Disease is a hereditary blood disorder that affects the shape and functioning of red blood cells.
  • Thalassemia is an inherited blood disorder that reduces the body’s ability to produce healthy haemoglobin.
  • Hemophilia is a genetic disorder that impairs the blood clotting process.
  • Duchenne Muscular Dystrophy is a genetic disease that causes progressive muscle degeneration and weakness.
  • Spinal Muscular Atrophy (SMA) is a rare inherited disease that damages nerve cells controlling muscle movement.

Challenges Associated with Rare Genetic Disorders

• Delayed Diagnosis: Lack of awareness and inadequate genetic testing facilities delays the diagnosis of rare diseases.
  • Many patients spend several years consulting multiple doctors before receiving accurate diagnosis.
• High Cost of Treatment: Treatment and gene therapies for rare diseases are expensive and unaffordable for most families.
  • Dependence on imported medicines further increases healthcare expenditure.
• Limited Healthcare Infrastructure: India has a limited number of specialised centres for genetic diagnosis and counselling.
  • Advanced healthcare facilities for rare diseases are concentrated mainly in urban areas.
• Shortage of Skilled Professionals: India faces a shortage of trained genetic counsellors, clinicians and genomic researchers.
• Social Burden: Families affected by rare diseases often face emotional stress, social stigma and financial hardship.
• Limited Research and Data: Lack of comprehensive data and disease registries affects effective policymaking and research. Rare diseases receive comparatively lower investment in scientific research and drug development.

Government Initiatives

• National Policy for Rare Diseases (NPRD), 2021: The National Policy for Rare Diseases provides a framework for prevention and management of rare diseases in India.
  • The policy supports financial assistance for treatment of selected rare diseases requiring one-time therapies.
• Rashtriya Bal Swasthya Karyakram (RBSK): Rashtriya Bal Swasthya Karyakram provides early screening and intervention services for children with birth defects and developmental disorders.
• Sickle Cell Anaemia Elimination Mission: The Government of India aims to eliminate sickle cell anaemia as a public health problem by 2047.

Way Ahead

• India should expand newborn and prenatal screening programmes across all states and districts.
• The government should establish more specialised centres for genetic diagnosis and counselling.
• Greater investment is needed in biotechnology research, genome sequencing and indigenous therapies.

Source: AIR