Application of Genetics in Clinical Practice

Since the completion of the human genome project our understanding of the genes, and their function in various pathophysiological conditions, has advanced and revolutionized the medical field. From a simple chromosome study to complex DNA sequencing, array CHG, and Next-Generation sequencing technology has made it possible to diagnose many rare diseases which were thought of as nonexistence or difficult to diagnose. And many of these disorders can be treated if diagnosed early. The burden of genetic disorders seems to be high in India likely to be due to consanguinity practiced in many communities. The present article is a basic understanding of the field of genetics and when to suspect and, how to diagnose and manage in day-to-day clinical practice.Conflict of Interest: None declaredSource of Support: Ms. Aadhira Nair is a junior research fellow on a research project funded by Gujarat StateBiotechnology Mission (GSBTM), Govt of Gujarat, India.