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The aim of this chapter is to overview the promises of the pioneering field of pharmacogenetics towards personalized medicine, completely changing the present therapeutic paradigm of “one dose fits all patients” and “trial-and-error” prescriptions to “matching the right dose to the right, specific genetic signature of the patient and at the right time”. The review points out the evolution from pharmacogenetics to pharmacogenomics, as well as the impact of genome-wide-associated studies (GWAS) and next generation sequencing technologies on deciphering “missing heritability” and on validation and approval of pharmacogenetic biomarkers as it is reflected both in regulatory authorities recommendations and from consortia perspectives. Pharmacogenetics’ translation from bench towards clinical practice in personalized medicine and drug discovery and development underlies the increasing benefits of pipeline pharmacogenetics, especially in the high-priority domains, as well as the emergence of the electronic health records-, biobankingand bioinformatics-driven pharmacogenetics within extended international networks. More effective and successful integration of pharmacogenetics in clinical practice should address challenges regarding bioethics, insurance and privacy, consensus scientific guidelines, education, pharmacoeconomics and regulatory policy issues. Finally, there are illustrated the promising perspectives opened by: the interrogation of extensive electronic databases comprising clinical phenotype and genotype information; discovery of novel biomarkers by mining epigenoms, “junk DNA”, mitochondrial and RNA polymorphisms; and integration of nanotechnologies, in order to achieve the major objective of selecting the right therapeutic strategy endowed with the highest level of efficacy and safety among a predictable segment of the genotyped patients’ population.

Pharmacogenetics: Matching the Right Foundation at Personalized Medicine in the Right Genomic Era