The government of our country has taken a step forward in medical advancements by setting up specialist laboratories for the testing of genetic diseases. These diseases are prevalent and are a major cause of infant and child mortality in the poorest districts of our country. With 117 aspirational districts in desperate need of such diagnostic facilities, these laboratories are expected to bring about significant improvements in healthcare. Functioning under the Human Genetics and Genome Analysis Programme of the Department of Biotechnology, Ministry of Science and Technology, the programme aims to tackle inherited diseases specific to the Indian population.
Genetic Disorders in India
Common genetic disorders plaguing India include Beta-Thalassemia, Cystic Fibrosis, Sickle Cell Anaemia, Spinal Muscular Atrophy, and Haemophilia. Beta thalassemia is a blood disorder that diminishes the production of haemoglobin, while cystic fibrosis severely damages the lungs, digestive system, and other organs. Sickle cell anemia or sickle cell disease, a genetic disease affecting red blood cells, are also widespread.
Spinal muscular atrophy, characterized by weakness and wasting in muscles used for movement, is another grave concern. The Health Ministry reports that approximately 80% of rare diseases are genetically originated, particularly affecting children. Shockingly, genetic diseases account for 35% of deaths before 1 year of age, 10% between 1 and 5 years, and 12% between 5 and 15 years.
| Disease | Effect |
|---|---|
| Beta-Thalassemia | Reduces production of hemoglobin |
| Cystic Fibrosis | Severe damage to lungs, digestive system and other organs |
| Sickle Cell Anaemia | Genetic disease of red blood cells |
| Spinal Muscular Atrophy | Weakness and wasting in muscles used for movement |
According to government estimates, genetic and congenital disorders are the second most common reason for infant and childhood death, with a prevalence of 25-60 per 1,000 births.
The Need for Specialized Laboratories
The insufficient facilities to deal with genetic diseases have resulted in the excessive emergence of private labs that unfortunately don’t adhere to international standards. Genetic testing, however, has made the detection of hereditary traits, diagnosis of heritable conditions, determination and quantification of susceptibility to genetic diseases considerably easier. The establishment of these specialist laboratories is expected to refine this process, thus contributing to the better management and prevention of genetic disorders in India.