We have newly started the department of Medical Genetics in NIMS Medicity. Genetic disorders are those disorders with onset from birth or later in life and many of them could be seen in multiple family members. Genetic disorders can affect any body system. These disorders are seen in 2-3% of our population. With early detection and with proper treatment plans we can easily prevent them from developing into major disabilities in the future. We could also prevent the transmission of these disorders in the future generation by prenatal testing, provided we do thorough evaluation of the affected patient. Here in this department a trained Geneticist will do clinical evaluation of those with concerns of familial/ hereditary or congenital disorders, provide accurate diagnostic services. Based on the diagnosis appropriate genetic counselling will be provided to the family for measures.
Chromosomal abnormalities, which cause birth defects, mental retardation, stunting and disabilities in babies. After proper genetic evaluation of the affected child, we could prevent recurrence of the same disorder in future pregnancies. Single gene disorders such as muscular dystrophy, Huntington’s disease, thalassemia, sickle cell disease, spinal muscular atrophy, are found very commonly in our population. If the cause is identified through proper evaluation, other family members could do targeted testing for the same disorder and find out if they are affected or not. In future the genetic reasons of common life style disorders like diabetes and coronary heart disease could be identified, warranting the need for more precise genetic evaluation on population basis. Testing for genetic factors that affect drug prescribing (Pharmacogenomics) will be an important activity soon. In fact, the future of medicine is going to be genetics and epigenetics.
We in NIMS Medicity, provide supportive therapies for all genetic disorders. We could also arrange various curative therapies for some rare genetic disorders which include advanced gene therapy, RNA interference therapy and Splicing modulation therapy as per the requirement of the patient.