Molecular diagnostics

Abstract

Pharmacogenomics is a rapidly evolving area driven by the new genetic information and new molecular technologies arising from the mapping and sequencing of the human genome. The field of pharmacogenomics has a parallel with the more traditional area of molecular diagnostics, in which molecular techniques are used for identification of a disease mutation in a particular patient population with a genetic disorder. Both fields have been impacted greatly by new genetic information and technologies, and have certain similar challenges to overcome. This chapter will focus on describing technologies and general issues in molecular diagnostics, and similarities to pharmacogenomic molecular applications.