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Pharmacogenomics—Critical Component of Genomic Medicine 

Pharmacogenomics—Critical Component of Genomic Medicine
Pharmacogenomics—Critical Component of Genomic Medicine

Wolfgang Sadee

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date: 06 June 2020

The role of genetic factors that determine how we interact with exogenous substances, for example a drug, was realized early in the 20th century. However, it took several decades before these insights became relevant to drug therapy within the broad concept of pharmacogenetics underpinning dramatic difference in the drug response as a result of genetic deficiencies or selection. With the emergence of genomics, our view of genetic factors in disease and therapy broadened to account for biological complexity on an unprecedented scale. Beyond monogenic Mendelian diseases, common disorders such as cardiovascular and CNS disorders, diabetes, and cancer, are considered to have polygenic origins. Moreover, gene-environment interactions are critical determinants of wellbeing and disease, with epigenetic modulation of cellular regulation playing a key role. In view of the complex biology impinging on drug response, it became compelling to embrace the emerging genomics concepts and technologies, most prominently large-scale sequencing, leading to a transformation of pharmacogenetics into pharmacogenomics. Concepts guiding the study of genomic DNA sequence, its epigenetic modifications and chromatin regulation, and the transcriptome, proteome and metabolome, merged and indeed became inseparably intertwined. Therefore, pharmacogenomics now is understood to encompass all these areas, integrating both complex patterns in genotype and phenotype, in an attempt to optimize and individualize drug therapy. In the context of genomic medicine, both pharmacogenetics and pharmacogenomics have assumed a critical role in implementing genomic principles into clinical practice.

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