Genomics Education Programme Dr Anneke Seller Scientific Director

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

Resources to support the 100 k. GP 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. Identify the participant Consent & Ethics: Short online course designed for clinicians Consent process seeking participant consent to join the 100, 000 Genomes Project. 2, 800+ course completions to date. Sample Processing and DNA Extraction: Series of Sample collection & DNA extraction Sequence annotation, validation and interpretation 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. (1 st module live on website) Validation of Results: Online collaboration hub launched for Reporting of findings 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 #genomes 100 k www. genomicseducation. hee. nhs. uk

Tumour Assessment Training Tool • • First in series of four modules now published Tumour Assessment in the Genomic Era: 1. 2. 3. 4. • • 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/Path. XL environment to allow learners to view and assess slides up to x 40 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 #genomes 100 k www. genomicseducation. hee. nhs. uk

Work the GEP is doing to support the feedback of rare disease results @Genomicsedu #genomes 100 k www. genomicseducation. hee. nhs. uk

Feedback of rare disease results: Short guide for clinicians • Collaboration with Genomics England 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 #genomes 100 k 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 #genomes 100 k 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 #genomes 100 k www. genomicseducation. hee. nhs. uk

Additional resources developed and funded by the GEP @Genomicsedu #genomes 100 k www. genomicseducation. hee. nhs. uk

A range of CPD opportunities From formal qualifications to social media: Qualifications Long course (weeks) Short course (hours) Resources (factsheets, guides, videos) Blog articles Tweets From ‘just in case’ education to ‘just in time’ information: Formal learning (eg course) Opportunistic learning (eg factsheet) Different activities that people engage in will depend on: Learning motivation Learning need Learning style @Genomicsedu #genomes 100 k www. genomicseducation. hee. nhs. uk

MSc in Genomic Medicine Framework Core From Sept 2018: 7 Russell Group HEIs Framework: MSc, PGCert, PGDip, CPPD 1239 individuals have participated 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 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 #genomes 100 k 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, c 100 views of full-length video and c 1, 700 views of short promo film @Genomicsedu #genomes 100 k www. genomicseducation. hee. nhs. uk

Question for the group What else can we do to support your (and your colleagues) work? @Genomicsedu #genomes 100 k www. genomicseducation. hee. nhs. uk

Genomics Education Programme And our social media… www. facebook. com/genomicsedu www. twitter. com/genomicsedu @Genomicsedu #genomes 100 k www. genomicseducation. hee. nhs. uk