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Genetic Disorders

  • 09 Jul 2019
  • 2 min read

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.
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