Module 3: Lecture 12 – Pharmacogenetics & Pharmacogenomics for Nurses in Africa

Name: Dr Alice Matimba
Affiliation: University of Cape Town
Location Cape Town, South Africa

Name: Professor Collet Dandara
Affiliation: University of Cape Town
Location Cape Town, South Africa

The use of genetic information to tailor therapies is currently the most advanced application in human genomics towards personalized medicine. Pharmacogenomics has become a rapidly expanding area of science that blends molecular pharmacology and genomics to understand the contribution of genetic inheritance in the variability of response to treatment including drug absorption, distribution, metabolism, and excretion affecting efficacy and adverse effects. In addition response of pathogens in infectious diseases and tumours in cancers are also influenced by genetic variations. Although used interchangeably, pharmacogenetics uses single marker associations while pharmacogenomics uses multiple genomic markers. In this course we will use PGx to refer to both pharmacogenetics and pharmacogenomics. Genetic variations in the form of single nucleotide polymorphism, gene deletion or duplication, chromosomal aberrations can affect how proteins are expressed or how they function —eg, increased or decreased enzyme activity that may be associated with variations in plasma concentration of a drug. The incidence of a particular polymorphism can differ among racial and ethnic groups. Knowing whether a patient carries particular genetic variations can help health practitioners to individualize drug therapy, increase a medication’s effectiveness and decrease the probability of drug-related adverse events. The main objective is to enable participants to have an appreciation and understanding of clinical PGx concepts and applications in optimising therapy based on a patient’s personal genetic results and clinical parameters.

Learning Outcomes

  • Discuss the impact of genetic variation on response to therapy.
  • Appraise PGx strategies in decision-making for optimising therapy or reducing side effect
  • Identify therapeutic areas in which pharmacogenomic testing can be applied in the clinical setting
  • Identify online PGx resources for obtaining current and updated PGx information
  • Explain PGx concepts to patients and their families
  • Evaluate ethical issues associated with the use of pharmacogenomics data in health care and research

Class Videos

Class Slides

Assessments: Pre-Class Exercise
Click here to access an article, (Credit: Nature Journal) reflect on this article and please load your thoughts via Vula and respond to other participants’ responses.

Assessments: Class Exercises
1). Does your facility/institute perform genetic tests to select patients who are better suited to any medication because of variation in response? If they do, please list the drug/disease/genetic test(s)
2). Click here to access the PharmGKB website
What is PharmGKB? (4 marks)

3). Some FDA approved drugs now have labels, these include the drugs below.
Abacavir, carbamazepine, Clopidogrel, Codeine, Phenytoin, thioguanine, warfarin.
Please choose one drug above and use PharmGKB to:
a) Identify the disease the drug treats (1 mark)
b) Identify at least one genetic mutation/variant and describe what reactions drug reactions (1 mark)
c) Describe the genetic tests associated with the gene (1 mark)
e) Describe the distribution of this genetic variant in world populations (African, African-American, Caucasian, Asian, San) and comment on the utility of the accompanying/existing genetic test (1 mark)


Class Evaluation
See course evaluations section.

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