Pharmacogenomics and Stratified Healthcare

BIOL67481 Pharmacogenomics and Stratified Healthcare 15 Semester 1 Postgraduate Taught Level 7 William Newman Unit coordinator John Mcdermott Unit coordinator School of Biological Sciences 1 FHEQ level (Framework for Higher Education Qualifications) ' Masters/Integrated Masters P4 ' European Credit Transfer & Accumulation System Rating : 7.5 <div>Pharmacogenomics and Stratified Healthcare  Pharmacogenomics (PGx) is defined by the Food and Drug Administration (FDA) as: "The study of variations of DNA and RNA characteristics as related to drug response". PGx is utilised in two main areas:  (a) To inform the drug development process and  (b) To help inform personalised prescribing and/or the stratification of patients into sub-groups  In both cases, PGx focuses on the predictive outcome of drug interventions. This may involve the utilisation of companion diagnostics (CDx) alongside drug therapeutic treatment. A typical CDx might be a molecular assay that, for instance, tests for certain genetic variants to stratify sub-populations, select appropriate medication or tailor dosages to a patient's specific needs.  PGx has the potential to change healthcare significantly, since differences between patients' response to treatment can be partially explained by their genotype (pharmacokinetic, pharmacodynamic, and immunological genetic variability). Using PGx data alongside other clinical information can be used to develop individualised or stratified healthcare for patients. It may also contribute towards a more effective and safer use of drugs, potentially decreasing costs, resulting from drug toxicity and lack of efficacy, by identifying patients most likely to respond positively to a particular drug at a particular dose.  Indicative Content  1. Genomic basis of drug response including: drug mechanisms of action, drug  effectiveness and drug toxicity, including: pharmacokinetics, pharmacodynamics and  immune hypersensitivity responses, discussing ethnic differences and how these  are/might be applied in prescribing practice.  2. Use of genomic information, for targeted drug development with particular emphasis on the genes encoding metabolic enzymes, drug transporters and drug receptors and drug:drug interactions  3. Companion diagnostics and NHS service delivery models  4. Different types and examples of genomic-targeted intervention (examples of genomically-targeted clinical, therapeutic or lifestyle choices) 5. Genomic biomarkers and genetic variations leading to inter-individual variability in drug response: SNPs, short sequence repeats, haplotypes, DNA epigenetic modifications, e.g. methylation, deletions or insertions, copy number variants, RNA expression levels, RNA splicing. 6. Definition and understanding of models of clinical adoption and impact of pharmacogenomics.  </div>  <div>Pharmacogenomics and Stratified Healthcare  Pharmacogenomics (PGx) is defined by the Food and Drug Administration (FDA) as: "The study of variations of DNA and RNA characteristics as related to drug response". PGx is utilised in two main areas:  (a) To inform the drug development process and  (b) To help inform personalised prescribing and/or the stratification of patients into sub-groups  In both cases, PGx focuses on the predictive outcome of drug interventions. This may involve the utilisation of companion diagnostics (CDx) alongside drug therapeutic treatment. A typical CDx might be a molecular assay that, for instance, tests for genetic variants to stratify sub-populations, select appropriate medication or tailor dosages to a patient's specific needs.  PGx has the potential to change healthcare significantly, since differences between patients' response to treatment can be partially explained by their genotype (pharmacokinetic, pharmacodynamic, and immunological genetic variability). Using PGx data alongside other clinical information can be used to develop individualised or stratified healthcare for patients. It may also contribute towards a more effective and safer use of drugs, potentially decreasing costs, resulting from drug toxicity and lack of efficacy, by identifying patients most likely to respond positively to a particular drug at a particular dose.  Indicative Content  1. Genomic basis of drug response including: drug mechanisms of action, drug  effectiveness and drug toxicity, including: pharmacokinetics, pharmacodynamics and  immune hypersensitivity responses, discussing ethnic differences and how these  are/might be applied in prescribing practice.  2. Use of genomic information, for targeted drug development with particular emphasis on the genes encoding metabolic enzymes, drug transporters and drug receptors and drug:drug interactions  3. Companion diagnostics and NHS service delivery models  4. Different types and examples of genomic-targeted intervention (examples of genomically-targeted clinical, therapeutic or lifestyle choices) 5. Genomic biomarkers and genetic polymorphisms leading to inter-individual variability in drug response: SNPs, short sequence repeats, haplotypes, DNA epigenetic modifications, e.g. methylation, deletions or insertions, copy number variants, RNA expression levels, RNA splicing.  6. Definition and understanding of models of clinical adoption and impact of pharmacogenomics.  </div>  This module aims to describe the complexity of pharmacogenomics and its application in clinical practice. This will include tailoring drug treatment to improve patient response, and techniques to stratify patients at risk of adverse drug reactions. The module will use examples of known, validated pharmacogenomic tests, relevant to the use of drug treatments. <div>By the end of this module, you should be able to:<ol><li>Evaluate the key mechanisms of genomically-determined differential drug response and drug reaction.</li><li>Appraise the strategies and analytical approaches for stratifying patients for optimal drug response and to avoid adverse drug reactions; including an awareness of differences across ethnicities</li><li>Explain the implication of pharmacogenomic results in current clinical practice considering relevant national guidance.</li><li>Appraise the challenges and limitations of clinical applications of pharmacogenomics</li><li>Identify and evaluate the different types of current and emerging biomarkers used in personalised medicine.</li></ol></div> <div>Prior to teaching  Preliminary reading and self-directed study materials will be sent out to all students  approximately 2 weeks before the course. This is to ensure that prospective students have sufficient familiarity with the scientific background to this study area and to ensure that  they will be able to benefit, fully, from the teaching delivered during the 3 day course.During the 3 day face to face "in house" course  A series of 10 - 15 interactive lectures covering the key themes and concepts. Morning lectures will be followed by group and team-based learning (TBL) activities to  consolidate and further discuss the key content. Afternoons will be hands-on workshops, where students will work individually, in pairs or in small inter-professional groups (IPE). During the workshops they will learn to use, critically  evaluate and apply the knowledge gained in the lectures and group sessions and report  back (verbally) to the rest of the class on their findings.After the course   Assignments will be submitted, via Turnitin, to check for plagiarism, and will be marked  within 3 weeks. Students will receive individualized feedback. E-learning/Blended learning delivered via Canvas Evidence-based learning supported by course notes, reading lists, audio lectures/podcasts, case studies and online tutorials/webinars</div> 1 Written exam 50% 2 Written assignment (inc essay) 50% Personalised verbal and written feedback. MSc Genomic Medicine FT MSc Genomic Medicine FT (HEE) PGDT Taught Component Mandatory MSc Genomic Medicine PT MSc Genomic Medicine PT PGDT Taught Component Mandatory MSc Genomic Medicine PT MSc Genomic Medicine PT (HEE) PGDT Taught Component Mandatory PG Diploma Genomic Medicine FT PG Diploma Genomic Medicine FT PGDT Taught Component Optional PG Diploma Genomic Medicine FT PGDip Genomic Medicine FT(HEE) PGDT Taught Component Optional PG Diploma Genomic Medicine PT PG Diploma Genomic Medicine PT PGDT Taught Component Optional PG Diploma Genomic Medicine PT PGDip Genomic Medicine PT(HEE) PGDT Taught Component Optional PG Cert Genomic Medicine FT PG Cert Genomic Medicine FT PGDT Taught Component Optional PG Cert Genomic Medicine FT PGCert GenomicMedicine FT(HEE) PGDT Taught Component Optional PG Cert Genomic Medicine PT PG Cert Genomic Medicine PT PGDT Taught Component Optional PG Cert Genomic Medicine PT PG Cert Genomic Med PT (HEE) PGDT Taught Component Optional Genomic Medicine - CPD Genomic Medicine - CPD PGDT Taught Component Optional Genomic Medicine - CPD Genomic Medicine - CPD (HEE) PGDT Taught Component Optional Y <ul><li>Pirmohamed M. Pharmacogenomics: current status and future perspectives. Nat Rev Genet 2023;24:350–62.  </li><li>McDermott JH, Tsakiroglou M, Newman WG, Pirmohamed M. Pharmacogenomics in the UK National Health Service: Progress towards implementation. Br J Clin Pharmacol. 2025;91:2241-2250.  </li><li>McDermott JH, Sharma V, Keen J, Newman WG. Embedding Pharmacogenetics Into Clinical Practice to Improve Patient Outcomes. Ann Hum Genet. 2025;89:398-405.  </li><li>McDermott JH, Shoaib A, Keen J, Skitterall C, Sharma V, Newman WG. How to implement pre-emptive pharmacogenetic testing in the acute hospital setting. Pharmacogenomics. 2025;26:385-390.  </li><li>https://www.genomicseducation.hee.nhs.uk/blog/what-is-pharmacogenomics/ </li></ul> 0 0 150