Bernard Esquivel

Medical Genetics Summaries is a growing collection of summaries which describe the impact that specific sequence variations have on health. The summaries review genetic variants that underlie inherited conditions, affect the risk of developing a disease in the future, or influence how an individual may respond to a specific drug.

Pharmacogenomics (PGx) is one of the core elements of personalized medicine. PGx information reduces the likelihood of adverse drug reactions and optimizes therapeutic efficacy. St Catherine Specialty Hospital in Zagreb/Zabok, Croatia has implemented a personalized patient approach using the RightMed® Comprehensive PGx panel of 25 pharmacogenes plus Facor V Leiden, Factor II and MTHFR genes, which is interpreted by a special counseling team to offer the best quality of care. With the advent of significant technological advances comes another challenge: how can we harness the data to inform clinically actionable measures and how can we use it to develop better predictive risk models? We propose to apply the principles artificial intelligence to develop a medication optimization platform to prevent, manage and treat different diseases.

Community pharmacy services have evolved to include medical and pharmaceutical interventions alongside dispensing. While established pharmacogenomic (PGx) testing is available throughout the Netherlands, this is primarily based in hospital environments and for specialist medicines. The aim of this work was to describe how best to implement PGx services within community pharmacy, considering potential barriers and enablers to service delivery and how to address them. The service was implemented across a selection of community pharmacies in the Netherlands. Data were captured on test outcomes and through a pharmacist survey. Following testing, 17.8% of the clinical samples were recommended to avoid certain medication (based on their current medicines use), and 14.0% to have their dose adjusted. Pre-emptive analysis of genotyped patients showed that the majority (99.2%) had actionable variants. Pharmacists felt confident in their operational knowledge to deliver the service, but less so in applying that knowledge. Delivering the service was believed to improve relationships with other healthcare professionals. These results add to the evidence in understanding how PGx can be delivered effectively within the community pharmacy environment. Training pharmacists in how to respond to patient queries and make clinical recommendations may enhance service provision further.