The Genomic and Precision Medicine in Clinical Practice: Current perspectives and future directions

Abstract

An important milestone in the history of medical science is the recent completion of the human genome sequence. The progress on identification of approximately 22,000 homo sapiens genes and their regulatory regions provides the framework for understanding the molecular basis of disease. This advance has also laid the foundation for a broad range of genomic tools that can be applied to medical science. These developments in the gene and gene product analysis across the whole genome have opened the way for targeted molecular genetic testing in a number of medical disorders. This is destined to change the practice of medicine.

The future clinical practice will be more focused, precise, and individualized often referred to as “precision and personalised medicine.” However, despite these exciting advances, many practicing clinicians perceive the role of molecular genetics, in particular, that of medical genomics, as confined to the research arena with limited clinical applications. Genomic medicine applies the knowledge and understanding of all genes and genetic variation in human disease. The basic ingredient of the contemporary practice of medicine is clinical molecular medicine that encompasses genetic, genomic, and molecular applications. This article introduces genomics-based advances in personalised disease-susceptibility screening, diagnosis, prognostication, stratified approach for genomics-led therapeutics, and prediction of treatment outcome in various areas of medicine.