Insights on Pharmacogenetics and Pharmacogenomics: Advantages and Challenges for Healthcare Professionals

Abstract

Pharmacogenetics and pharmacogenomics (PGx) have revolutionized personalized medicine by studying DNA's role in drug response variability. While "pharmacogenetics" often relates to genes affecting drug metabolism, "pharmacogenomics" encompasses all genome-related drug responses. The distinction is arbitrary, and both terms are used interchangeably. PGx influences drug efficacy, safety, and dosage, allowing for personalized treatments. Its history dates back to 510 B.C., with Pythagoras noting differential reactions to fava beans. Despite international clinical guidelines, PGx research has gaps, especially in regions like Iraq, where genetic diversity and frequency data are lacking.

Drug responses result from both pharmacokinetic and pharmacodynamic factors, with GWAS aiding gene-drug interaction discovery. Genetic variations in PGx are prevalent, impacting over 50% of prescriptions in the USA and 58% in the UK. PGx influences drug dosages, exemplified by warfarin's sensitivity to CYP2C9 and VKORC1 variants. It also plays a role in adverse drug reactions (ADRs), with immune-mediated ADRs and HLA alleles studied extensively. Genotyping has significantly reduced ADRs, as seen with abacavir hypersensitivity.

Despite challenges, PGx is slowly integrating into clinical practice. Pre-emptive genotyping and panel-based testing hold promise, but validation is essential. PGx has also revolutionized drug development, doubling success rates by selecting genetically supported drug targets.

PGx's future involves addressing ethnic diversity gaps in genomics data and embracing polygenic risk scores. Its potential to shape healthcare and offer tailored therapies makes it a pivotal player in the future of medicine.

In conclusion, PGx is a transformative field that enhances drug therapy, drug development, and disease risk assessment. Overcoming challenges, particularly related to clinical implementation and genetic diversity, is essential to realize the full potential of PGx in shaping the future of healthcare globally.