Pharmacogenetics definition

Essential to the definition of Pharmacogenetics is the term genetic polymorphism. It is extrapolated that there are at least three million genetic polymorphisms in the human genome. Historically, a genetic polymorphism was defined as a genetic variation with a population frequency of 1% and above, but the larger inter-ethnic variation of population frequencies makes a strict definition based on such frequencies impractical. The most common molecular type of polymorphism is the... 

Meyer UA. Genotype or phenotype the definition of a pharmacogenetic polymorphism. Pharmacogenetics 1991 1 66-67. 

There is widespread indiscriminate use of, and thus confusion about the terms pharmacogenetics and pharmacogenomics . While no universally accepted definition exists, there is emerging consensus on the differential connotation of the two terms (see Tab. 6.1). 

There is a diversity of opinion regarding definitions and benefits of pharmacogenetics and pharmacogenomics.1 3 For example, pharmacogenetics is often considered to be the study of inter-individual variations in DNA sequence related to drug absorption and disposition (pharmacokinetics, PK) or drug action (pharmacodynamics, PD). Polymorphic variation in the genes that encode the functions of transporters,... 

Establishment of definable end-points for the investigation of specific differences between normal and abnormal responders poses another problem. Consider the evaluation of drug treatment of hypertension as a case in point. In this instance, the definitive end-point would be measured by the difference in the incidence of strokes and cardiovascular disease between normal and abnormal drug responders, but this would probably occur years after the trait is recognized and modifying treatment undertaken. Another example of pharmacogenetic interest... 

T.D. Arias, L.F. Jorge, R. Barrantes, Uses and Misuses of Definitions of Genetic Polymorphism. A Perspective from Population Pharmacogenetics , Br. J. Clin. Pharmacol., 31,117-118 (1991). 

U. A. Meyer, Genotype or Phenotype The Definition of a Pharmacogenetic Polymorphism , Pharmacogenetics,... 

There were also some observational foreruimers. In 1932, Snyder (3) described a heritable disability of some people to taste phenylthiocarbamide. In 1943, Savin and Glick (4) noticed a genetic lack of atropine esterase in some rabbits these animals died while eating belladoima leaves, whereas most rabbits were not affected. These cases were perceived as isolated observations they preceded the definition of pharmacogenetics but they helped later investigators to establish pharmacogenetics as a science. 

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