Precision medicine using pharmacogenomic panel testing

Wouden, C.H. van der (2020)

Doctoral Thesis

Pharmacogenomics (PGx) utilizes an individual’s germline genetic profile to identify those who are at higher risk for ADRs or lack of efficacy. This information can be used by healthcare professionals (HCPs) to guide dose and drug selection before drug initiation in an effort to optimize drug therapy through precision medicine. Despite both the promise of and the progress in the field of PGx to achieve precision medicine, it is still not routinely applied in patient care. As such, a number of barriers preventing implementation have been identified. These include the undetermined model for delivering PGx, the lack of evidence supporting a PGx panel approach and the lack of tools supporting implementation. Therefore, the work of this thesis aims to support the implementation of precision medicine using PGx panel testing. It reports on generating evidence for PGx panel testing (Part I) and the development of tools facilitating implementation (Part II), evaluates the implementation process utilizing these tools (Part III) and quantifies the impact of PGx implementation on patient outcomes and cost-effectiveness (Part IV).

• Pharmacogenomics
• Pharmacogenetics
• Panel testing
• Adverse drug events
• Adverse drug reactions
• Precision medicine
• Personalised medicine
• Cost-effectiveness
• Clinical trial
• Implementation

• All authors: Wouden, C.H. van der
• Supervisor: Guchelaar, H.-J.
• Co-supervisor: Swen, J.J.
• Committee: Asperen, C.J. van; Maarel, S.M. van der; Wilffert, B.; Coenen, M.J.
• Qualification: Doctor (dr.)
• Awarding Institution: Faculty of Medicine, Leiden University Medical Center (LUMC), Leiden University
• Date: 2020-09-02
• ISBN (print): 9789464023749
• Sponsorship: The research leading to these results has received funding from the European Community’s Horizon 2020 Programme under grant agreement No.668353 (U-PGx).