Genetic Disorders | 09 Jul 2019

The government is setting up specialist laboratories in the country to conduct tests for genetic diseases, which is a leading cause of death among infants and children in the poorest districts across the country.

• There are 117 aspirational districts that lack such diagnostic facilities.
• The laboratories will run under the Human Genetics and Genome Analysis Programme under the Department of Biotechnology, Ministry of Science and Technology.
  
  • The programme addresses issues related to specific inherited diseases concerning the Indian population.

Genetic Disorders in India

• Common genetic disorders in India are Beta-Thalassemia, Cystic Fibrosis, Sickle Cell Anaemia, Spinal Muscular Atrophy and Haemophilia.
  
  • Beta thalassemia is a blood disorder that reduces the production of hemoglobin.
  • Cystic fibrosis is a disorder that causes severe damage to the lungs, digestive system and other organs in the body.
  • Sickle cell anemia, or sickle cell disease (SCD), is a genetic disease of the red blood cells (RBCs).
  • Spinal muscular atrophy is a disorder characterized by weakness and wasting in muscles used for movement (skeletal muscles).
• According to the Health ministry, at least 80% of rare diseases have an identified genetic origin and disproportionately impact children.
  
  • Half of all new cases are in children and are responsible for 35% of deaths before the age of 1 year, 10% between the ages of 1 and 5 years, and 12% between 5 and 15 years.
• According to the government estimates, the genetic and congenital disorder is the second most common cause of infant and childhood mortality, and occurs with a prevalence of 25-60 per 1,000 births.

Need For Laboratories

• There is a consequent mushrooming of private labs in the country not following international standards.
• Genetic testing has enabled researchers and clinicians to detect inherited traits, diagnose heritable conditions, determine, and quantify the likelihood that a heritable disease will develop, and identify genetic susceptibility to familial disorders.