Title of the larning unit: Pharmacogenetics


Importance of the learning unit:

Gaining the basic information  about  Pharmacogenetics and gene (genetic) polymorphisms.


Description of the learning unit:

Theoretical basis of Pharmacogenetics and Pharmacogenomics.  Molecular-biological basis of gene
(genetic) polymorphism, how the presence of variant alleles  influence the encoded proteins.
Genetic polymorphism with clinical impact on pharmacokinetic and pharmacodynamic parameters of the
taken drugs.  Information about Clinical Pharmacogenetics Implementation Consortium (CPIC).


Relevant terms:

pharmacogenetics

pharmacogenomics

gene polymorphism (genetic polymoprhism)

genotyping

                variant allele

                wild allele

phenotyping

                poor, intermediate and rapid  metabolisers

common gene polymorphism


Outcomes:

Student describes the term pharmacogenetics, gene (genetic) polymorphism, and knows the  molecular
basis of these disciplines.

Student defines the diferences between pharmacogenetics and pharmacogenomics.

Student is aware of the clinical impact of the presence of variant alleles on the efficiency of the
encoded proteins.

Student knows about the  existence of population differences in the occurrence of variant alleles
and explains the  terms phenotyping, genotyping , slow, intermediate, rapid metabolisers, variant
and wild allele.

Student gives examples of gene polymorphisms influencing the pharmacokinetics and pharmacodynamics
of the drug with clinical impact.


Information sources:

Study materials for courses aVLFA0721p and aVLFA0721c.


Exam questions

General pharmacology: 31. Pharmacogenetics, influence of genetic polymorfisms on pharmacokinetics
and pharmacodynamics of drugs