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Pharmacogenomics and Stratified Healthcare

Module description

Pharmacogenomics and stratified healthcare, which ensures that healthcare professionals offer the 'right treatment, for the right person, at the right time’, is a fast developing subject. This module will provide you with an overview of the analytical strategies and techniques used in pharmacogenomics. You will also explore some of the challenges and limitations in this field (e.g. availability of patient material for studies of rarely occurring adverse drug reactions, allelic heterogeneity between different ethnic groups, patient compliance). Biomarkers are the predictive tools for optimising drug response and preventing adverse drug reactions therefore this module will also provide you with an overview of the different types of genomic biomarkers which are currently in use or emergent.

Module aims - intentions of the module

Pharmacogenomics is playing a key role in our healthcare system. This module will describe the complexity of pharmacogenomics, techniques used to stratify patients at risk of adverse drug reactions and the effect of medication on individuals based on their genetic makeup i.e. tailoring drug treatment to improve patient response. This module will use examples of known validated pharmacogenomics tests relevant to the use of drug treatments.

Intended Learning Outcomes (ILOs)

ILO: Module-specific skills

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

• 1. Evaluate the mechanism of genomically-determined differential drug response, and drug reaction
• 2. Appraise the strategies and analytical approaches for stratifying patients for optimal drug response or adverse drug reactions including ethnic differences, and how these can be used to determine its applicability to a specific patient (‘companion diagnostics’)
• 3. Analyse the challenges and limitations of pharmacogenetic studies
• 4. Critically evaluate how genomic information can enable development of drugs targeted for particular genotypes
• 5. Critically evaluate the use of pharmacogenetic testing for patient stratification and the integration into standard health care

ILO: Discipline-specific skills

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

• 6. Identify the ethical, legal and social issues (ELSI) that could accompany patient stratification for healthcare advice or intervention, and justify the use of patient stratification to improve the diagnosis and treatment of disease.
• 7. Evaluate the different types of current and emergent biomarkers used in personalised medicine.

ILO: Personal and key skills

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

• 8. Critically reflect on personal practice and make connections between known and unknown areas, to allow for personal development, adaptation and change.
• 9. Respond to innovation and new technologies and be able to evaluate these in the context of best practice and the need for improved service delivery.
• 10. Communicate accurately and effectively with peers, tutors and the public.

Syllabus plan

Whilst the module's precise content may vary from year to year, an example of an overall structure is as follows:

• Genomic basis of drug reaction and drug efficacy, including ethnic differences in relation to both of these, and how these are applied in prescribing practice.
  • Challenges and Limitations of pharmacogenetic studies, for example:
    • availability of patient material/samples for studies of adverse drug reactions
    • allelic heterogeneity between different ethnic groups
    • patient compliance with the drug regime
  • · Different types and examples of genomic-targeted intervention (examples of genomically-targeted clinical, therapeutic or lifestyle choices)
  • · Genomic biomarkers: SNPs, variability of short sequence repeats, haplotypes, DNA modifications, e.g. methylation, deletions or insertions, copy number variants, RNA expression levels, RNA splicing, microRNA levels
  • Awareness of standardised nomenclature
  • · Use of biomarkers in treatments other than cancer
    • · Use of genomic information for targeted drug development
    • · Companion diagnostics and options for NHS service delivery models
      • · NHS England strategy
      • · The role of NICE guidelines and other governing frameworks
      • · Ethical, legal and social issues including ethnic differences at a genomic level and equity of access to testing
      • · Patient choice regarding treatment plans

Availability of direct to consumer testing and the implications for pharmacogenomics testing

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

• Turnpenny, P. and Ellard, S. (2012). Emery's elements of medical genetics. Philadelphia: Elsevier/Churchill Livingstone. (electronic access through University of Exeter library)

• Rang, H., Dale, M., Flower, R. and Henderson, G. (n.d.). Rang and Dale's pharmacology. Philadelphia: Elsevier/Churchill Livingstone. (electronic access through University of Exeter library)

• Strachan, T., Goodship, J. and Chinnery, P. (2015). Genetics and genomics in medicine. New York: Garland Science. 

ELE:  http://vle.exeter.ac.uk/course/view.php?id=6143

Indicative learning resources - Web based and electronic resources

• https://www.pharmgkb.org/

• http://www.ncbi.nlm.nih.gov/pubmed

• https://pharmacogenomics.ucsd.edu/

Key words search

Drugs, efficacy, stratification, biomarkers, adverse drug reaction