Characterization of actionable pharmacogenetic (PGx) variation across population-based cohorts

The field of pharmacogenetics (PGx) focuses on understanding the role that genetics plays related to individual responses to medications. The identification and characterization of clinically relevant genetic variants has great potential to enhance clinical benefit, decrease adverse drug reactions, and lower the cost of treatment by optimizing drug selection and dosing for an individual. However, incorporating genetic information into regular clinical practice has seen limited uptake. Furthermore, existing research efforts are often challenged by small sample sizes or they lack of rich clinical data on disease and medications. Here, our motivation is to characterize the occurrence of key genetic variants and determine whether they are associated with increased medication or dosing changes in electronic medical records systems. Ultimately, this research will improve the understanding of the how PGx testing may influence clinical decision making in a real-world setting and may lead to personalized prescriptions with improved medication response rates and fewer the adverse drug effects.