Pharmacogenomics Glossary

Allelic variant: A variation in the normal sequence of a gene.

Genotype: The genetic formation.

Genotype-phenotype correlation: The association between the presence of genetic variation and the resulting physical characteristics or abnormality.

Pharmacogenetics vs. Pharmacogenomics: “Pharmacogenetics” has been used interchangeably with the term “pharmacogenomics”, but mostly refers to the study of genetic variation in drug metabolizing enzymes and the effect on drug response.  Pharmacogenomics represents the general study of the entire spectrum of genes that affect drug behavior.

Phenotype: Observable features of the expression of genes.

Polymorphism: Natural variations in genes that exist stably in the population, usually have no adverse effects on the individual.

SNP: single nucleotide polymorphism, the most common type of DNA variation, usually with a frequency above 1%.