ESR 14 – THE GOLDEN HELIX FOUNDATION, United Kingdom

Standardization of disease and population-specific genotyping panel for preemptive pharmacogenomics: Towards population pharmacogenomics

Host: THE GOLDEN HELIX FOUNDATION, United Kingdom

PhD awarding institution: UNIVERSITY OF PATRAS (Greece)

Lead Supervisor: G Patrinos

Objectives: This project will develop and standardize disease and population-specific genotyping panels for preemptive pharmacogenomics. We will expand on our previous work, consisting of (a) the first pan-European study on clinical pharmacogenomics in Europe and (b) the delineation of the different prevalence of pharmacogenomics biomarkers in different populations among the same racial group. ESR 14 advance the knowledge and challenges by (a) developing population-specific genotyping panels for preemptive pharmacogenomics, especially for developing European countries and (b) to define diseasespecific pharmacogenomic panels (e.g. cardiovascular diseases, cancer, neuropsychiatric disorders, etc). These panels will be accompanied by a dedicated web-based translational tool to retrieve, in a dynamic manner from regulators guidelines and make them available to physicians for optimizing drug prescriptions for patients based on their pharmacogenomic testing results. We will adopt a truly multidisciplinary approach, including genome informatics, A.I. and machine learning. ESR 14 will also perform economic evaluation to determine the cost-effectiveness of these panels towards reimbursement of these assays and the reduction of the overall healthcare costs.