Name & Department:
Alireza Tafazoli, Department of Analysis and Bioanalysis of Medicines
Public PhD Defence date: 07.12.2022
Doctoral Thesis title:
"Complete clinical pharmacogenomic profiling,
new insight for the future of personalized drug therapy"
Supervisor/s:
Prof. dr. hab Wojciech Miltyk
Prof. Jesse J. Swen
Reviewers:
Prof. George P. Patrinos, Prof. dr hab. Barbara Bojko, Prof. Mohammad Reza Abbaszadegan
Current affiliation:
Department of Analysis and Bioanalysis of Medicines, Faculty of pharmacy with the division laboratory medicine
Plans for the Future:
Postdoctoral in Clinical Pharmacogenomics.
Abstract:
Main result of studies included in my dissertation are about pharmacogenomics (PGx)-related bioinformatic software outcomes and the approaches to deal with less-studied pharmacogenes and pharmacovariants. Four publicly available PGx bioinformatics algorithms to assign PGx haplotypes were applied to nine selected very important pharmacogenes (VIP) and revealed a 45–70% concordance rate. To ensure availability of the results at point-of-care, actionable variants were stored in a web-hosted database and PGx-cards were developed for quick access and handed to the study subjects. Also, methods for deep computational filtration of large scale clinical PGx profiling introduced in order to perform functional assessment of not-interpreted pharmacovariants. In conclusion, it is feasible to use clinical WES data for comprehensive PGx analysis and pharmacovariant detection. The discrepancies between state-of-the-art PGx dedicated bioinformatic tools result may be managed through data comparison and curation, based on reference databases. Utilization of PGx-related bioinformatics algorithms plus PGx-oriented deep filtration of high throughput DNA sequencing result through the utilization of BED file for (only) drug-related genes can help and accelerate the integration of PGx tests into daily clinical practice.