Abstract

Translating Pharmacogenomics into the Clinic: A Regulatory Perspective

Theodora Katsila, Senior Research Scientist, University of Patras

Personalized medicine is an essential component of modern medical practice. Although genetic tests provide new tools, they do not change the fundamental goal of clinicians to adapt available medical tests and technologies to individualize patient care. Cancer pharmacogenomics are already implemented in clinical practice and diagnostic tests have been developed and are now available for several drugs employed in cancer treatment. Pharmacogenomics is also enhancing the clinical applications of two antithrombotic drugs, the anticoagulant drug warfarin and its analogs and the antiplatelet agent clopidogrel, used in the treatment of cardiovascular diseases. Genetic variation in genes encoding for pharmacokinetic factors involved in the metabolizing processes of psychotropic drugs have been shown to predict, to some extent, response to antidepressants and antipsychotics. As pharmacogenetic tests become widely available, personalized medicine will make wise use of genetic information in order to dissect the complex picture of variability in response to medication and manifestation of adverse drug reactions. Educational, economic and ethical challenges need to be faced in the implementation process of pharmacogenomics in personalized medicine. Finally, strict regulatory framework should be implemented for pharmacogenetic testing services distinguishing them from overall “predictive genomics” testing, the latter currently lacking solid scientific grounds. In addition, pharmacogenomics is relevant for developing countries. The Golden Helix Foundation (www.goldenhelix.org) is the European regional coordinating center to determine the global pharmacogenomics map and since 2010 is coordinating the recruitment of cases from over 28 European developing countries. This project, that is presently under the umbrella of the Genomic Medicine Alliance (www.genomicmedicinealliance.org), aims to make pharmacogenomics readily applicable in the European healthcare systems, particularly thos