Abstract

The aim of research in human biology is to cure diseases and improve the quality and longevity of life. DNA, the basic molecule of life, has been the target of study over the last few decades. Rapid technological advancements, after the completion of Human Genome Project, have contributed a great deal to the knowledge of genetic factors and their impact on human life and has unlocked a whole new way in clinical genomics to evaluate various diseases. 

These advances are opening up new avenues for the clinicians to offer their patients innovative tools to achieve optimum health. Genetic Testing has now reached a stage where it is becoming increasingly applicable for rapid and accurate diagnosis of inherited disorders, as well as the basis for prediction of cancers and lifestyle diseases. Currently, more than 1800 disease genes have been identified, more than 2000 genetic tests have become available.

The metabolism of some drugs (conversion to an active form or an inactive form) is under genetic control. Mutations in the genes for enzymes that metabolize drugs may lead to too much or too little active drug when physicians prescribe standard doses. A pharmacogenetic test aims to detect a genetic basis for differences in the response to a drug.

Today, the conversation an oncologist has with a lung cancer patient differs greatly depending on whether the patient has an actionable mutation. We’re talking about giving patients oral targeted therapies where life expectancies are on the order of three to five years, versus chemotherapy when the patient doesn’t have an actionable mutation and where life expectancies are much shorter.

This is just the tip of the iceberg. There are several such examples wherein advances in genetics and genomics are transforming medical practice, resulting in a dramatic growth of genetic testing in the healthcare system. 

However, the rapid development of new technologies has also brought its own challenges, including the need for rigorous evaluation of the validity and utility of genetic tests, questions regarding the best ways to incorporate them into medical practice, and how to weigh their cost against potential short- and long-term benefits.