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Pharmacogenomics

Module description

Pharmacogenomics and individualised therapy are exciting areas of medicine and scientific research. It has been known for many years that genetic variation can affect the efficacy of some drugs which may also result in adverse side effects. Recently, however, there have been developments in the treatment of diseases such as cancer and cystic fibrosis on the basis of patients’ genetic information and are having a real impact on their survival and quality of life. In this module you will cover the basic concepts of pharmacogenomics and relate these to current clinical practice where appropriate. Additionally you will have the opportunity to study in depth examples of individualised therapy in diseases such as cancer, cystic fibrosis and diabetes. You will also consider the introduction of genetic testing for new pharmacogenomic discoveries taking into account analytical and clinical validity, clinical utility and ethical aspects.

This is an optional module for final year students of the BSc Medical Sciences programme (particularly recommended for those on the Human Genomics and Pharmacology and Therapeutics pathways.

Pre-requisite modules:

All students on the Medical Sciences programme will have taken BIO1334 Genetics and CSC2012 Disease, Diagnostics and Therapeutics. Prior knowledge required for the module will be covered in these two modules. If you are not on the Medical Sciences programme demonstration of prior knowledge of cell biology, genetics and molecular biology will be essential and can be demonstrated by/through successful completion of NEU1007 Introduction to Genetics and NEU2019 (Neuropharmacology) OR , BIO1334 Genetics and BIO2089 Molecular Biology of the Gene or similar. 

Module aims - intentions of the module

In this module we aim to examine the influence of genetic variation (monogenic and polygenic) on the efficacy and adverse side effects of drugs. We aim to cover the general concept that genetic variation can affect either the pharmacodynamics or pharmacokinetics of a drug or cause idiosyncratic drug reactions, using current and relevant examples, and relate these to clinical practice where possible. Specific examples of individualised therapy in diseases such as cancer, cystic fibrosis and diabetes will be studied in depth linking with local research where possible. You will appraise recent developments in pharmacogenomics research and evaluate the application of these for precision diagnostics and targeted treatment.

A broad understanding of the concepts involved in pharmacogenomics and an understanding of how research findings are implemented into clinical practice will provide you with skills useful for a career in research or clinical science.

Intended Learning Outcomes (ILOs)

ILO: Module-specific skills

On successfully completing the module you will be able to...

• 1. Describe how adverse drug reactions cause problems for patients, prescribers and drug companies and how they may be caused by genetic variation.
• 2. Explain and exemplify how genetic variation can affect the pharmacokinetics or pharmacodynamics of drugs
• 3. Explain and exemplify how genetic variation can give rise to idiosyncratic reactions
• 4. Distinguish between monogenic variation and polygenic variation and give examples
• 5. Describe how individualised therapy is being used to treat disease and give examples
• 6. Access accurate up to date information on human genetic variation on drug responses and summarise the information succinctly
• 7. Appraise and evaluate developments in the field of pharmacogenetics for use in clinical practice
• 8. Choose a particular treatment option in specific clinical scenarios after interpreting genetic data.

ILO: Discipline-specific skills

On successfully completing the module you will be able to...

• 9. Distinguish between the terms mutation and polymorphism and use appropriate mutation nomenclature including HGVS nomenclature, the ‘rs’ numbering system and the ‘star’ nomenclature
• 10. Illustrate how mutation can cause a change to protein structure

ILO: Personal and key skills

On successfully completing the module you will be able to...

• 11. Manage time and workload effectively
• 12. Communicate ideas effectively either written or orally in a group
• 13. Show critical thinking, effective problem formulation and problem solving skills

Syllabus plan

Whilst the module’s precise content may vary from year to year, an example of an overall structure is as follows:
Teaching sessions will occur twice a week. In the first week the module will be introduced and prior knowledge of genetics and pharmacology will be assessed and tutorials delivered to ensure all students have a similar understanding of basic principles in pharmacology and genetics. In subsequent weeks lectures will be delivered on each of the following: genetic factors influencing pharmacokinetics, pharmacodynamics, polygenic variation, idiosyncratic responses to drug, regulatory issues and examples of the use of individualised therapy. Each week there will also be tutorials to support the lecture content. Activities in the tutorials will vary and will include group presentations, journal clubs and exercises to consolidate knowledge. Exercises will include using genetic data to recommend particular treatment options in specific clinical scenarios and quizzes. The group presentation titles and a topical research paper which you will be expected to read will be allocated by the lecturer for the following week. In addition there will be computer lab based sessions to explore some of the pharmacogenomics web based tools that exist. In the last session of the module you will participate in a group debate.

Learning activities and teaching methods (given in hours of study time)

Details of learning activities and teaching methods

Formative assessment

Summative assessment (% of credit)

Details of summative assessment

Details of re-assessment (where required by referral or deferral)

Re-assessment notes

Please refer to the TQA section on Referral/Deferral: http://as.exeter.ac.uk/academic-policy-standards/tqa-manual/aph/consequenceoffailure/

Indicative learning resources - Basic reading

1. Ritter J, Flower RJ, Henderson G, Yoon Kong Loke, Rang HP. Rang and Dale’s Pharmacology. 9th ed. Edinburgh: Elsevier; 2020. Chapter 12 https://encore.exeter.ac.uk/iii/encore/record/C__Rb4316666?lang=eng
2. Ellard PD. Emery’s Elements Of Medical Genetics And Genomics. S.L.: Elsevier Health Sciences; 2021.Chapter 15 https://encore.exeter.ac.uk/iii/encore/record/C__Rb4572611?lang=eng

ELE –  https://vle.exeter.ac.uk/course/view.php?id=9087

Indicative learning resources - Web based and electronic resources

https://www.pharmgkb.org/

http://www.ncbi.nlm.nih.gov/pubmed

https://pharmacogenomics.ucsd.edu/

Henry Stewart talks (available through University of Exeter library)

1. Of genes and drugs: genetic determinants of adverse drug reactions / Mario Masellis. https://hstalks.com/t/269/of-genes-and-drugs-genetic-determinants-of-adverse/?biosci
2. Genetic, environmental and other design issues relevant for pharmacogenetics studies  / Ridha Joober. https://hstalks.com/t/260/genetic-environmental-and-other-design-issues-rele/?biosci

Indicative learning resources - Other resources

You will be expected to read and critically appraise landmark and original papers in journals such as The Pharmacogenomics Journal, Pharmacogenomics, The New England Journal of Medicine and British Medical Journal

Key words search

pharmacogenetics, pharmacogenomics, pharmacodynamics, pharmacokinetics, adverse drug reactions, genetic variation