Genomics Education Programme Dr Anneke Seller: Scientific Director and Head of Programme Cancer Validation and Reporting Workshop - June 4 2018

HEE Genomics Education Programme Established in 2014 Up until March 2018 are aims were to: Post March 2018 - are aims are as above plus: Embed genomic medicine into mainstream practice Increase capacity and capability Support 100,000 Genomes Project Align to NHSE Vision for Genomic Medicine National oversight of Genomics Education Align to Government/DH recommendations @Genomicsedu #genomes100k www.genomicseducation.hee.nhs.uk

Resources to support the 100kGP Identify the participant Consent process Sample collection & DNA extraction Sequence annotation, validation and interpretation Reporting of findings 100,000 Genomes Project pipeline Eligibility Wheels: >60 at-a-glance guides across 15 medical specialties to help clinicians identify eligible participants to join the 100,000 Genomes Project. 2,700+ downloads to date. Consent & Ethics: Short online course designed for clinicians seeking participant consent to join the 100,000 Genomes Project. 2,800+ course completions to date. Sample Processing and DNA Extraction: Series of instructional videos produced for staff in molecular genetics and histopathology labs. 3,500+ views to date. Tumour Assessment Tool: Education and training modules for healthcare scientists and histopathologists on accurately assessing tumour samples for genomic sequencing. (1st module live on website) Validation of Results: Online collaboration hub launched for discussion of rare disease cases and sharing good practice. Scoping exercise underway to develop education and training resources. Feedback of Results: Package of resources to support clinicians who receive the genomic rare disease results report, and identify elements that will inform the patient’s prognosis and treatment. (DUE 2018) @Genomicsedu #genomes100k www.genomicseducation.hee.nhs.uk

Tumour Assessment Training Tool First in series of four modules now published Tumour Assessment in the Genomic Era: Evidence for a Systematic Approach: out now Adopting a Systematic Model: June 2018 Assessment: June 2018 (Supplementary) Intro to Tissue Pathology: (TBC)  Aimed at histopathologists, and clinical and biomedical scientists Built within Philips Tutor/PathXL environment to allow learners to view and assess slides up to x40 magnification at high resolution Modules based on Royal Marsden/QUB model of tumour assessment for FFPE samples going forward for DNA extraction and genomic sequencing Study suggests model can reduce disparity in results from up to 80% to 20% (David Gonzalez de Castro – unpublished) @Genomicsedu #genomes100k www.genomicseducation.hee.nhs.uk

Work the GEP is doing to support the feedback of rare disease results @Genomicsedu #genomes100k www.genomicseducation.hee.nhs.uk

Feedback of rare disease results: Short guide for clinicians Collaboration with Genomics England and East of England NHS GMC Crib sheet to accompany rare disease results Providing top level headlines of what to consider for the clinical management of the patient and their family– it is not a substitute for clinical judgement/involvement of MDT Includes ‘top tips’ from participants of the 100,000 Genomes Project Information relates to the question: Does the individual now have a molecular diagnosis? Yes – what to do next for the patient and the family Uncertain – what to do next No – what to do next @Genomicsedu #genomes100k www.genomicseducation.hee.nhs.uk

Feedback of rare disease results: Supplementary resources to be developed ACGS guidelines (2017) variant classification – resource for mainstream clinicians Aim to improve knowledge NOT to become proficient Lived experience of receiving results Patients/participants as our ‘subject matter experts’ ‘life changing answers’ – negative result will have an impact Exploring opportunities with members of the Participant Panel @Genomicsedu #genomes100k www.genomicseducation.hee.nhs.uk

Questions for the group Would a similar package of resources be useful to accompany results from the cancer arm of the 100,000 Genomes Project? If so, what information would it be helpful to include? Any volunteers to work with us on this project? @Genomicsedu #genomes100k www.genomicseducation.hee.nhs.uk

Additional resources developed and funded by the GEP @Genomicsedu #genomes100k www.genomicseducation.hee.nhs.uk

A range of CPD opportunities Tweets Blog articles Resources (factsheets, guides, videos) Short course (hours) Long course (weeks) Qualifications A range of CPD opportunities From formal qualifications to social media: From ‘just in case’ education to ‘just in time’ information: Formal learning (eg course) Opportunistic learning (eg factsheet) Opportunistic learning – ‘informal’ learning as defined by the GMC Different activities that people engage in will depend on: Learning motivation Learning need Learning style @Genomicsedu #genomes100k www.genomicseducation.hee.nhs.uk

MSc in Genomic Medicine Framework Core Optional Introduction to human genetics and genomics Ethical, Legal and social issues in applied genomics  Omics techniques and their application to genomic medicine Counselling skills for genomics Genomics of common and rare diseases Economic models and human genomics Molecular Pathology of cancer and application in diagnosis Professional and research skills Pharmacogenomics and stratified healthcare Advanced bioinformatics Application of genomics in infectious diseases Genome-based therapeutics  Bioinformatics, interpretation and data quality assurance in genomic analysis   Cardiovascular genetics and genomics  Research project / dissertation Applied next generation sequencing From Sept 2018: 7 Russell Group HEIs Framework: MSc, PGCert, PGDip, CPPD   1239 individuals have participated   Funding For more information about available funding* for NHS staff visit www.genomicseducation.nhs.uk *Please note funding only available for staff employed in England @Genomicsedu #genomes100k www.genomicseducation.hee.nhs.uk

Genomics in Medical Specialties Launched short film ‘Genomics in Pathology’ as part of a new series Features interviews with Dr Jane Moorhead, King’s College Hospital, and Prof Louise Jones, Barts Health NHS Trust Film highlights latest developments in pathology and cancer treatment Accompanied by info / factsheet Receiving good engagement in first 2 weeks: 100+ shares and likes on Twitter, c100 views of full-length video and c1,700 views of short promo film @Genomicsedu #genomes100k www.genomicseducation.hee.nhs.uk

Question for the group What else can we do we do to support your (and your colleagues) work? @Genomicsedu #genomes100k www.genomicseducation.hee.nhs.uk

Genomics Education Programme And our social media… www.facebook.com/genomicsedu www.twitter.com/genomicsedu @Genomicsedu #genomes100k www.genomicseducation.hee.nhs.uk