The total genetic material of an organism, that is, an organism’s complete deoxyribonucleic acid (DNA) sequence is called a genome and genomics is the study of all the genes in an organism – their sequences, structure, regulation, interaction, and products. Currently, it is estimated that there are 20,000–25,000 genes in the human organism according to different estimates. Several new technologies have been developed to study the genome and new terms have been derived from genomics, the best known of which is pharmacogenomics. The completion of sequencing of the human genome has opened a new era for improved understanding of the genetic basis of human diseases and to provide new targets for drug discovery. Pharmacogenomics is an important base for the development of personalized medicines. Pharmacogenomics is the use of genetic sequence and genomics information in patient management to enable therapy decisions. The genetic sequence and genomics information can be that of the host (normal or diseased) or of the pathogen. Pharmacogenomics will have an impact on all phases of drug development − from drug discovery to clinical trials. It will also apply to a wide range of therapeutic products including bioengineered proteins, cell therapy, antisense therapy, and gene therapy. These treatments are also subject to constraints and complexities engendered by individual variability. The role of pharmacogenomics in variable therapy targets is shown in Table 5.1.
KeywordsDrug Discovery Personalized Medicine SCN5A Mutation Pharmacogenomic Study Disease Susceptibility Gene
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