Abstract

SD Pandit
Clinical and Molecular Medicine Program, National Heart, Lung, And Blood Institute, Bethesda, MD, USA

Individuals differ in the way they respond to drugs and individualized medicine that matches the right treatment to the right patient may soon drive the quality of public health and radically change the way we practice medicine. Recent advances in biology, medicine and technology have raised interest in tailoring drug development and treatment for the individual rather than generic for the population. Personalised medicine is the ability to individualise therapy by predicting which individuals are likely to respond to the drug and pre-determine the individuals at risk of an adverse event, thus contributing to the efficacy and safety of drug therapy.

Pharmacogenetics is the study of an individual’s genetic make-up and his variation in response to drug therapy or adverse effects, and pharmacogenomics usually refers to new drug development based on knowledge of genes and their variation in the human genome. However, these terms are often used interchangeably. The ultimate goal of pharmacogenetics is to reduce drug-induced morbidity and mortality, and have effective disease management, which will reduce health care costs. This area is highly dependent on identifying key markers (e.g., genetic factors) that are associated with a disease, and having a treatment for that disease so it can be matched to the biology of an individual.

Since the completion of human genome sequence, the genomic research community, and industry have focused their efforts to define inherited genetic variation. Any two individuals are 99.9% identical at the DNA sequence level. It is the 0.1% variation in DNA sequence, termed Single Nucleotide Polymorphisms (SNPs) that are believed to contribute to our susceptibility to diseases and individual variation in drug response.

An introduction to personalized medicine, current technologies and recent examples of pharmacogenomic studies will be presented.



Keywords: personalised medicine, pharmacogenomics, pharmacogenetics