Pharmacogenetics Flashcards
Personalized Medicine
form of medicine that uses information about a person’s genes, proteins, and environment/behavior to prevent, diagnose, and treat disease
Genomic Medicine
application of genetic/genomic testing and principles to the provision of personalized medicine
Effects of Genetic Variation
- absorption
- distribution to target tissue
- drug target itself
- metabolic processing (activation of prodrug or drug inactivation)
- excretion
Pharmacogenetics
study of drug response in relation to genetic variation in specific candidate genes
Pharmacogenomics
study of drug response in relation to genetic variation in entire genome
Pharmacokinetics
involves absorption, distribution, metabolism, and elimination of drugs
Pharmacodynamics
involves receptor, ion channel, enzyme, signaling pathway, and immune system interactions
Two Phases of Drug Metabolism
- Phase I: oxidation, reduction, hydrolysis (cytochrome P450)
- Phase II: conjugation via acetylation, glucuronidation, sulfation, methylation
Cytochrome P450 Complex
- major enzymes involved in drug metabolism and bioactivation
- 40% of drug metabolism carried out by CYP2C9, CYP2C19, and CYP2D6
Normal/Extensive Metabolizer
two wild type alleles
Intermediate Metabolizer
one wild type and one variant allele
Poor Metabolizer
two variant alleles
Ultrarapid Metabolizer
may have duplications or gain of function variants
Warfarin
- anticoagulant from prevention of thrombosis and embolism by impairing synthesis of vitamin K-dependent clotting factors
- pathway involves CYP2C9 and VKORC1, both of which important for dosage and extent to which individual metabolizes drug
Clopidogrel (Plavix)
- antiplatelet therapy that inhibits clot formation
- metabolism involves CYP2C19
