COLLEGE OF MEDICINE AND HEALTH
Medicine, Nursing and Allied Health Professions

Description

Pharmacogenomics

Module titlePharmacogenomics
Module codeCSC4005
Academic year2020/1
Credits15
Module staff

Dr Vikki Moye (Convenor)

Duration: Term123
Duration: Weeks

12

Number students taking module (anticipated)

40

Description - summary of the module content

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 BIO1341 Biochemistry,  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 CSC1007 Introduction to Genetics, BIO1335 Cell and Developmental Biology and 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 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

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 and teaching

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

Scheduled Learning and Teaching ActivitiesGuided independent studyPlacement / study abroad
281220

Details of learning activities and teaching methods

CategoryHours of study timeDescription
Scheduled Learning & Teaching activities11(11 x 1 hour) Lectures. delivered through short pre-recorded videos with follow up reading, or delivered in face-to-face lectures if possible.
Scheduled Learning & Teaching activities2(2 x 1 hour) Tutorials to assess prior learning and to revise basic principles. consisting of online quizes followed by short pre-recorded videos and further reading or through face-to-face taught interactive sessions if possible.
Scheduled Learning & Teaching activities10(10 x 1 hour ) Tutorials with group presentations, exercises and discussions. short pre-recorded videos with follow up activities to be completed asynchronously or synchronously in groups or individually via MS Teams or Zoom meetings (activity dependent) or through face-to-face taught interactive sessions if possible.
Scheduled Learning & Teaching activities1Group debate via MS Teams or Zoom or in face to face taught session if possible
Scheduled Learning & Teaching activities4(2 x 2 hour) Workshop session synchronously via MS Teams or Zoom or through face to face taught interactive sessions if possible.
Guided independent study33Reading allocated research papers, watching suggested videos (~3 hours per week)
Guided independent study16Preparing for group presentations (~4 per term)
Guided independent study2Preparing for group debate
Guided independent study71Preparing for assessment/independent research

Assessment

Formative assessment

Form of assessmentSize of the assessment (eg length / duration)ILOs assessedFeedback method
Pharmacogenomics self-assessment quiz 1 hour1-13Written
Practice short answer questions~6 questions1-13Written
Crosswords and quizzes in tutorials2 hours1-10Written
Short report (letter to the editor)1 A4 page1-13Written

Summative assessment (% of credit)

CourseworkWritten examsPractical exams
50500

Details of summative assessment

Form of assessment% of creditSize of the assessment (eg length / duration)ILOs assessedFeedback method
Short report (letter to the editor)501.5 A4 (template provided)1-13Written
Short answer examination501.5 hours1-13Written (on request)

Re-assessment

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

Original form of assessmentForm of re-assessmentILOs re-assessedTimescale for re-assessment
Short report (letter to the editor) (50%)Short report (letter to the editor 1.5 A4 (Template provided)1-13Ref/def period
Short Answer Question Examination (50%)Short Answer Question Examination (1.5 hours)1-13Ref/def period

Re-assessment notes

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

Resources

Indicative learning resources - Basic reading

Basic reading:

  • Emery's Elements of Medical Genetics, 2012 (Turnpenny and Ellard. Elsevier) (electronic access through University of Exeter library)
  • Pharmacology, 2012 (Rang and Dale, Elsevier, electronic access available through University of Exeter library )

Indicative learning resources - Web based and electronic 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
  2. Genetic, environmental and other design issues relevant for pharmacogenetics studies / Ridha Joober.

Module has an active ELE page

Indicative learning resources - Other 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 

Credit value15
Module ECTS

7.5

Module pre-requisites

Either

BIO1341 Biochemistry and BIO1334 Genetics / CSC1007 Introduction to Genetics and CSC2012 Disease, Diagnostics and Therapeutics (or equivalent)

or

BIO1334 Genetics, BIO2089 Molecular Biology of the Gene and BIO1335 Cell and developmental biology

Module co-requisites

None

NQF level (module)

6

Available as distance learning?

No

Origin date

11/08/2014

Last revision date

13/07/2020