PATRAS, GREECE - Several patient-specific factors, such as ethnicity, age, gender, co-existing conditions and polypharmacy are associated with deviations between the expected and the observed effects owing to a specific medication. A significant proportion of the observed differential drug responses are attributed to genetic variants located in genes involved in the processes of pharmacokinetics, pharmacodynamics or even in genes coding for enzymes of the immune system, also known as pharmacogenes, which constitute the backbone of pharmacogenomics (PGx), a core component of personalized medicine.

Several well-characterized common PGx variants exist that can be identified by platforms such as microarrays, while, alternatively, next-generation sequencing (NGS), either whole exome sequencing (WES), whole genome sequencing (WGS) or even targeted resequencing, can be also used for this purpose, thus providing a more comprehensive idea of an individual’s genomic composition.

Approximately 10-15 percent of the drugs approved by the European Medicines Agency (EMA) and the United States Food and Drug Administration (FDA) are accompanied by pharmacogenomic recommendations, which link relevant PGx biomarkers with drug toxicity and/or efficacy. To date, the results of large-scale next-generation sequencing (NGS) analyses unravel several challenges, thus complicating the interpretation of the effects of PGx variants on protein function. 

A large volume, e.g., of novel, ra