A class of diseases that not only cause physical misery but also psychological trauma to the patient and their family, is genetic disorders affecting successive generations. These include diseases such as thalassemia and muscular dystrophy. The problem of genetic disorders in India is enormous. The population has never been systematically studied for the prevalence of inherited genetic disorders with millions of people suffering from these diseases. The disease associated with genetic defect/s may not necessarily manifest themselves in the individual (carriers), however often affect the next and future generations. The distressing and disturbing truth in this sad saga is that there is no cure available for most of these diseases and therefore prevention of the inheritance of such diseases becomes essential. The role of various forms of genetic screening and counselling in the prevention of genetic diseases is now well established.
In this backdrop, genetic diagnosis has immense potential. Genetic defects in an individual may not manifest itself at an early age but make an individual more susceptible to disease e.g. diabetes, hypertension etc. Genetic screening in these cases could help identify high risk patients and ensure they are provided with proper guidance with lifestyle issues to delay or prevent the onset of diseases. Increased monitoring of these high risk patients would help diagnose the disease at an early stage, thus enabling the patient and doctors to plan and manage the associated risks and medication. Indians are known to be susceptible to common diseases such as diabetes mellitus and coronary heart diseases due to their genetic makeup.