An Introduction to “Omics” Technologies

AN INTRODUCTION TO “OMICS” TECHNOLOGIES

Since the discovery of DNA’s overall structure in 1953, the world’s scientific community has continued to gain a better understanding of the genetic information encoded by DNA and the genetic information carried by a cell or organism. In the 1980s and 1990s,biotechnology techniques produced novel therapeutics and a wealth of information about the mechanisms of various diseases such as cancer. Yet the etiology of many other diseases, including obesity and heart disease, remained unknown at the genetic and the molecular level, presenting no obvious target to attack with a small molecule drug or biotechnology-produced therapeutic agent. The answers were hidden in what was unknown about the human genome. Despite the increasing knowledge of DNA structure and function in the 1990s, the genome, the entire collection of genes and all other functional and non-functional DNA sequences in the nucleus of an organism, had yet to be sequenced. DNA may well be the largest, naturally occurring molecule known. Successfully meeting the challenge of sequencing the entire human genome is one of history’s great milestones and heralds enormous potential (Venter et al., 2001; The Genome International Sequencing Consortium, 2001). While the genetic code for transcription and translation has been known for years, sequencing the human genome provides a blueprint for all human proteins and the sequences of all regulatory elements that govern the developmental interpretation of the genome. The potential significance includes identifying genetic determinants of common and rare diseases, providing a methodology for their diagnosis, suggesting interesting new molecular sites for intervention (Fig. 1), and the development of new biotechnologies to bring about their eradication. Unlocking the secrets of the human genome may lead to a paradigm shift in clinical practice toward true targeted molecular medicine and patient-specific therapy.