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MedGenome Labs and Aster CMI a leading hospital based in Bengaluru organized a day-long educative session on rare diseases.
This was in sync with the World Rare Disease Day observed on February 28. The theme was ‘Back to Basics-Types of Genetic Tests’. The session was chaired by Dr. Mohan Kubendra, President Karnataka Chapter, The Academy of Family Physicians, Dr. VL Ramprasad, chief operating officer, MedGenome Labs and Dr. Sheetal Sharda, Consultant Clinical Geneticist at MedGenome Labs.
The session focused upon bridging the gap between the rapidly evolving technical diagnostics capabilities available in the country for rare diseases and what is being leveraged in the day to day medical practice in the area of rare diseases.
Rare Diseases are inherited disorders and thus affect children more than adults. They often hide behind the symptoms of common diseases that can create confusion and a delayed diagnosis. Furthermore, due to lack of clear symptoms at the onset, they often go misreported and thus the affected patient is not able to receive an appropriate course of treatment.
“Genetic disorders or inherited disorders is no more a rare phenomenon as we have seen a steady rise in reportage of these diseases. It is hence crucial for young physicians and other medical professionals to understand the need for genetic tests and scenarios where a patient should be advised for these tests. It is equally important to know where these confirmatory tests can be conducted and their protocols. A simple blood test can assess the complete genetic make-up of an individual today”, said Dr. Ramprasad.
Commonly found rare diseases in the country currently are Haemophilia, Thalassemia, Sickle-cell Anaemia and Primary Immuno Deficiency in children, auto-immune diseases, Lysosomal storage disorders such as Pompe disease, Hirschsprung disease, Gaucher's disease, Cystic Fibrosis, Hemangiomas and certain forms of muscular dystrophies.
Earlier the test reports would take around two to three years which led to delayed diagnosis. However, with Next Generation Sequencing’ technology reports today are generated within four to eight weeks.
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