Abstract

Next Generation Sequencing - The Future of Diagnostics is Here!

Manjeet Mehta, Head-Clinical Diagnostics, Global Gene Corporation Pte Ltd

The completion of the human genome sequence project heralded a new era of medical and genetic research. With the completion of the human sequence in 2004, the true potential of genetic research was realized. Clinicians began to see personalized medicine as the future of hospitals, and researchers saw the potential for discovery and better understanding of many diseases. Next-generation sequencing (NGS) technologies have begun to revolutionize the field of diagnosis through the assessment of a patient's genetic makeup. Significant discoveries have already provided a unique insight into disease initiation, risk stratification and therapeutic intervention. Over the past years, rapid technological advances have continued to broaden NGS applications from research to the clinic. Recent discoveries have highlighted the medical impact of NGS technologies on both inherited diseases, as well as cancer. Compared to traditional sequencing, NGS holds many advantages, such as the ability to fully sequence all types of mutations for a large number of genes (hundreds to thousands) in a single test at a relatively low cost. NGS is used to identify novel and rare mutations, detect familial mutation carriers, and provide molecular rationale for appropriate targeted therapy. The talk would cover the clinical applications of NGS in Genetic Diseases, Cancer Testing & Prediction, and Non-Invasive Prenatal Diagnosis.