These adverse events are reasons for drug withdrawals and termination of drug development. By focusing on important adverse events and their economic impact, we expect these efforts to yield important results with very positive implications for public health as it can improve the quality of life, as well as help towards reducing healthcare costs. The PGx Working Group has liaised with the Bioinformatics Working Group to develop solutions for translating pharmacogenomics into a clinically meaningful format.

Activity

DruGeVar database

The Pharmacogenomics Working Group aims to rationalize drug use by minimizing drug toxicity and/or by increasing drug efficacy. The Working Group extracted information from published literature and online resources to develop DruGeVar. The online database triangulates drugs with genes and pharmacogenomics biomarkers in an effort to build a comprehensive database that could serve clinical pharmacogenomics.

A large number of genomic variants have been correlated with a variable drug response and severity of adverse drug reactions. Although a fraction of these drugs have been approved by regulatory agencies and comprehensive drug-gene lists exist online, information related to the respective pharmacogenomic biomarkers is currently missing from such lists.

The user-friendly data querying and visualization of the DruGeVar interface allows users to formulate both simple and complex queries. The database could be readily applicable as a standalone resource or a plug-in module for other databases.

The DruGeVar project was realized jointly with the Genomic Medicine Alliance Pharmacogenomics Working Group.

1000 Pharmacogene Resequencing Project

The 1000 Pharmacogene Resequencing Project, which is the follow-up of the successfully completed Euro-PGx project Mizzi et al., PLOS ONE, 2016, will focus on the resequencing of 100 pharmacogenes in 900 healthy donors from nine Southeast Asian populations.

Genotyping will be performed at the RIKEN Institute in Japan, using the whole pharmacogene resequencing panel and will include genotyping of the HLA genes and CYP2D6 gene multiplications. Healthy donors from Europe and the Gulf Cooperation Council (GCC) countries will be analyzed as controls.

This project is anticipated to yield important benefits for the participating countries, including (a) capacity building, (b) harmonizing education activities, (c) performing economic evaluations to determine whether certain genome-guided treatment modalities are cost-effective, (d) motivating replication of these studies in these populations using a much larger population sample, and (e) making people aware of the value of pharmacogenomics.

Publications