Primer on medical genomics. Part VI: Genomics and molecular genetics in clinical practice.

Abstract

An important milestone in medical science is the recent completion of a "working draft" of the human genome sequence. The identification of all human genes and their regulatory regions provides the framework to expedite our understanding of the molecular basis of disease. This advance has also formed the foundation for a broad range of genomic tools that can be applied to medical science. These developments in global gene and gene product analysis as well as targeted molecular genetic testing are destined to change the practice of modern medicine. Despite these exciting advances, many practicing clinicians perceive that the role of molecular genetics, especially that of genomics, is confined primarily to the research arena with little current clinical applicability. The aim of this article is to highlight advances in DNA/RNA-based methods of susceptibility screening, disease diagnosis and prognostication, and prediction of treatment outcome in regard to both drug toxicity and response as they apply to various areas of clinical medicine.