Overview

Pharmacogenomics is increasingly important for safe and effective prescribing. This module will describe the science of pharmacogenomics, and the interplay between people's genetic make-up and the effects of medicines – both in terms of improving treatment response, and for reducing the risk of adverse drug reactions. The module will use examples of known, validated pharmacogenomics tests that can inform dose and treatment selection across many drug classes and diseases. The module aims to empower healthcare professionals with an ability to provide better, more personalised care, which in turn will improve health outcomes for patients. It will prepare you for the imminent mainstreaming of pharmacogenomics. The module aims to develop a background understanding in the latest developments and applications of pharmacogenomics and stratified healthcare, use examples of pharmacogenomic tests that are relevant in clinical practice to describe how genetic variation can affect the pharmacokinetics and pharmacodynamics of a drug, or cause immune-mediated adverse reactions.

Learning Outcome 1 - indicative content 1) Challenges and limitations of pharmacogenetic studies, including the availability of patient samples for studies of adverse drug reactions; allelic heterogeneity between different ethnic groups, and patient compliance with the drug regime. 2) Use of genomic information for targeted drug development. 3) The genomic basis of drug reaction and drug efficacy, the ethnic differences that apply; and how these are implemented in prescribing practice.

Learning Outcome 2 - indicative content 1) Different types and examples of genomic-targeted intervention and how to tailor drug treatments to improve a patient’s response. 2) Genomic biomarkers: SNPs, variability of short sequence repeats, haplotypes, DNA modifications; for example, methylation, deletions, or insertions, copy number variants, RNA expression levels, RNA splicing, microRNA levels.

Learning Outcome 3 - indicative content 1) Use of biomarkers in treatments other than cancer 2) Companion diagnostics and options for NHS service delivery models. 3) Availability of direct-to-consumer testing and the implications for pharmacogenomics testing. 4) Health technology assessment of pharmacogenomics

Assessment Strategy

-threshold -Pass (C- to C+) (range 50-59%)Primary criteriaA pass level demonstrates knowledge and comprehension of key areas & principles, with understanding of the main elements of the subject area, although gaps and weaknesses in the argument are evident. No real evidence of background study and wider reading is evident. Answers are focussed on questions but also with some irrelevant material and weaknesses in structure & argument. Answers have several factual/computational errors. Lack of originality and interpretation. No links between topics are described. Limited problem solving skills. Some weaknesses in presentation accuracy & delivery.Secondary CriteriaC+ Good within the class - Exceeds expectations for some primary criteria - Strong factual knowledge with some weaknesses in understanding - Ideas/arguments are limited but are well presentedC Mid-level - Matches all primary criteria - Moderate factual knowledge with some weaknesses in understanding - Ideas/arguments are limited presented with weaknesses in logic/presentationC- Meets requirements of class - Matches most but not all primary criteria - Moderate factual knowledge with several weaknesses in understanding - Ideas/arguments are limited presented with weaknesses in logic/presentation

-good -Merit (B- to B+) (range 60-69%)Primary criteriaGood students demonstrate strong knowledge & understanding of most but not all of the subject area. Limited evidence of background study. The answers are focussed with good structure. Arguments are presented coherently, mostly free of factual/computational errors. Some limited original interpretation. Well know links between topics are described. Problems are addressed by existing methods/approaches. Good presentation with accurate communicationSecondary CriteriaB+ Good - Exceeds expectations for most primary criteria - Command of subject but with gaps in knowledge - Some ideas/arguments originalB Mid-level - Meets all primary criteria - Strong factual knowledge and understanding - Ideas/arguments are well presented by few are originalB- Meets requirements of class - Meets most but not all primary criteria - Strong factual knowledge with minor weaknesses in understanding - Most but not all ideas/arguments are well presented and few are original

-excellent -Distinction (A- to A) (range 70-100%)Primary criteriaComprehensive knowledge & detailed understanding. Clear evidence of extensive background study & originality. Highly focussed, relevant and well structured answers. Arguments logically presented and defended with evidence and examples. Excellent presentation skills with very accurate communication.Secondary CriteriaA Outstanding - Exceeds expectations for most primary criteria - Complete command of subject and other relevant areas - Ideas/arguments are highly originalA+ Excellent - Exceeds expectations for some primary criteria - Complete command of subject - Ideas/arguments are highly originalA Good - Meets all primary criteria - Command of subject but with minor gaps in knowledge areas - Ideas/arguments are mostly originalA- Meets requirements of Class - Meets most but not all primary criteria - Complete command of subject but with some gaps in knowledge - Ideas/arguments are mostly original

Learning Outcomes

• Accurately interpret and critically analyse the patient, clinical and societal implications of pharmacogenomics

• Comprehend and accurately present understanding of variations in germline pharmacogenetics

• Demonstrate an ability to explain the interaction of pharmacogenomics with pharmacology