Genetic Differences in Drug Metabolism: Proposed Relationship to Human Birth Defects

Abstract

Pharmacogenetics research involves the attempt to understand the hereditary basis for two individuals (with the possible exception of identical twins) responding differently to drugs or other foreign chemicals. These responses include therapeutic effects (e.g., control of seizures), but also undesirable effects (e.g., increased risk of drug toxicity or cancer). The experimental model to be examined in detail in this chapter represents principally a genetic difference in receptor concentration. Because of this defect, there are large genetic differences in the biotransformation and pharmacokinetics of certain drugs and other environmental pollutants, resulting in important variations in risk toward birth defects, drug toxicity, mutation, and certain types of cancer.