Pharmacogenomics

Pharmacogenomics studies how genetic variation influences drug response, including efficacy, adverse effects, and the choice or dose of medicines.

Cytochrome P450: A family of enzymes that metabolizes many drugs and other compounds. Variants in CYP genes can speed or slow the breakdown of particular medicines.
Warfarin pharmacogenetics: The study of how genetic variants influence warfarin dose requirements and response. CYP2C9 and VKORC1 variants can inform initial dose estimates.
Single-nucleotide polymorphism: A common DNA variation at a single nucleotide position in the genome. Many pharmacogenomic associations begin with differences at specific DNA positions.
Single-gene pharmacogenetic testing: Testing one gene to inform the use of one or more related medicines. It contrasts with broad panels by targeting a specific prescribing question.
Polygenic risk score: A numerical estimate of genetic liability calculated from many variants and their statistical weights. Combining many small genetic effects may help explain drug response beyond single variants.
Drug transporter: A membrane protein that moves drugs into, out of, or within cells. Transporter variants can change drug concentrations at sites of action and elimination.
Clopidogrel pharmacogenetics: The study of how genetic variants affect clopidogrel activation and antiplatelet response. CYP2C19 loss-of-function variants can reduce activation and weaken treatment.
Allele: One of the alternative forms of a genetic sequence at a particular locus. Drug-response tests often report which alleles a person carries.
Preemptive pharmacogenomic testing: Genetic testing performed before a medication decision, with results stored for future prescribing. Its results can guide multiple later prescriptions rather than one immediate choice.
Clinical validity: The degree to which a test result reliably predicts a clinically relevant state or outcome. A variant association must predict response well enough to support treatment decisions.

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