Masters Programme in Genomic Medicine Open Day Event Tendering process Anne Gilford, Head of Education and Quality, HEWM 3 rd September 2014 Masters Programme in Genomic Medicine Open Day Event MSc Genomic Medicine Curriculum Val Davison, Scientific Advisor, National School of Healthcare Science 10 November 2015

HEE/GeL Masters (MSc) Programme in Genomic Medicine Support 100,000 genomes project and the research & clinical opportunities it provides Transformation of both specialist and general work force Wider education in genomic medicine Multiprofessional - build sustainable capacity within the NHS

Development of MSc MSc – full curricula available with tender Developed by experts from both GE and HEE Academic and clinical input Also out to consultation with patients and public

Commissioning MSc Genomic Medicine delivered in South West geographical footprint Track record of teaching at postgraduate level Demonstrate potential partnerships with Genomic Medicine Centres Required to form a national network and work collaboratively 65 commissions to be allocated to successful for full Master’s 100 CPPD commissions to be allocated

Programme Structure A full time option delivered over 1 year P/T – 2 years blended learning format Access to individual modules CPD Combinations of credit modules that can lead to PG Cert or PG Diploma A significant research component in the MSc Flexibility delivered by core modules and optional modules

Programme Structure Core Modules 15 credits An introduction to genomics Omics techniques and their application to medicine Genomics of common and rare disease Molecular pathology of cancer Pharmacogenetics and stratified healthcare Application of Genomics to infectious disease Bioinformatics interpretation Research dissertation (60 /30 credits) Optional Modules 15 credits ELSI Counselling skills for genomics Economic models and genomics Workbased learning Professional and research skills Epigenetics

Research modules Research project (60 credits) –Education and Training GeCIP led by HEE –In house project Clinical Laboratory based Literary dissertation (30 credits) –Epigenetics –Clinical topics

Potential Module Combinations Modules Core modules 1-7Research ModuleOptional modulesTotal Credits Combination 1 7x15 = 105 credits1x60=60credits1x15=15credits180 credits Combination 2 7x15=105 credits1x30 = 30 credits3x15=45 credits180 credits

Discuss the human genome structure and the properties of DNA sequence Critique the regulation of gene expression, transcription and translation and the contribution of each to cellular phenotype Discuss critically epigenetic modifications and imprinting and role in disease Describe the correlation of genotype with phenotype for both dichotomous and quantitative traits Describe and evaluate the purpose, structures, use and storage of health records An Introduction to Human Genetics and Genomics

Omics Techniques and application to genomic medicine Describe and critically evaluate a range of sequence technologies to targeted parts of the genome or whole genomes Discuss how these techniques and their applications in RNA expression, metabolomics and proteomic analysis Discuss and criticially appraise approaches to the bioinformatics analysis and interpretation of ‘omics’ data Critically evaluate the different ‘omics’ technologies and platforms in relation to genomic medicine

Genomics of common and rare disease Explain the principles of the genetic architecture of common and rare diseases Critique traditional and current approaches used to identify genes for common and rare diseases Discuss the Genomics England Programme and the Data Infrastructure Identify phenotype, select cases and relevant family information for whole exome or whole genome based approaches for hypothesis free whole exome or whole genome sequencing.

Pharmacogenomics & stratified health-care Discuss and evaluate the mechanism of several examples of genomically-determined differential drug response, and drug reaction Critique the strategies and analytical approaches for stratifying patients for adverse drug reactions or optimal drug response, including ethnic differences, and how these translate into ‘companion diagnostics’ Discuss critically with examples, how genomic information can enable development of drugs targeted for particular genotypes With reference to examples, demonstrate an appreciation of the ELSI which could accompany patient stratification for healthcare advice or intervention.

: Application of genomics in Infectious disease Demonstrate an in-depth knowledge of the differences between prokaryotes and eukaryotes genomes Discuss how the genome sequence of pathogens can be used to track cross infection and outbreaks of infections among the population Critique the molecular basis of organism drug resistance in some infections and how this directs drug research Evaluate how sequencing of the genome of infective organisms can be used in infectious disease for assessing: diagnosis, sub-classification & strain identity, pathogenicity, drug resistance and drug selection; and for epidemic control.

Clinical Bioinformatics Discuss the principles applied to quality control of sequencing data, alignment of sequence to the reference genome, pathogenic mutations in sequencing data the principles of informatics and bioinformatics applied to clinical data, and gain practical experience of the major national and international resources and standards which underpin them Discuss Iinterrogate major datasources, e.g. of genomic sequence, protein sequences, variation, pathways, (e.g. EVS, dbSNP, ClinVar, etc.) and be able to integrate with clinical data, to assess the pathogenic significance of genome result Acquire computational skills Gain practical experience of the bioinformatics pipeline through the Genomics England programme Understand the place of Professional Best Practice Guidelines in the diagnostic setting for the reporting of genomic variation.

Making sense of the science……..

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