I-33: Pharmacogenetics of Reproductive Medicine

Adverse drug reactions (ADRs) are a major problem in drug therapy and drug development. Inter-individual genetic differences can have significant roles in determining an individual’s susceptibility to ADRs. The rapid development of techniques in the area of genome analysis has put the scientific community in a power position and facilitated identification of new pharmacogenomic biomarkers that can provide predictive tools for improved drug response and fewer ADRs. Such biomarkers mainly originate from genes encoding drug-metabolizing enzymes, drug transporters, drug targets and human leukocyte antigens. Understanding pharmacogenetic (PG) differences in drug response and tolerability has been an important area of research in personalized medicine, but the clinical utility of PGs testing has not been established very well. Identification of genetic polymorphisms due to single nucleotide polymorphisms is the most common approach. PG studies are committed to selecting the best therapy for every patient with a minimum risk of complications. Furthermore, these studies allow the development of clinical tests based on the presence of profiles of biomolecules and other biological markers useful for routine diagnosis. Since genetic variations play an important role in reproductive medicine, pharmacogenetics studies open a new field to modify and develop the treatments of infertile couples. For instance, the application of PG to assisted reproductive techniques (ART) will help clinicians to improve the efficacy of hormone treatments that are being routinely applied during ART protocols. As an example, FSH- and estrogen-receptors are genetic markers involving controlled ovarian hyperstimulation as clinical studies have demonstrated that the p.N680S polymorphism of the FSH-receptor gene determines the less ovarian response to FSH stimulation in patients undergoing IVF. Consequently, pharmacogenetics can assist physicians with prescribing medicine to achieve the controlled ovarian stimulation.