100K Genomes Project Update from West of England A very brief update for the Urology SSG Provided by Catherine Carpenter-Clawson Cancer Services Manager, NBT

100k Genomes Project In December 2012 the Prime Minister announced a programme of Whole Genome Sequencing as part of the UK Government’s Life Sciences Strategy The principal objective is to sequence 100,000 genomes from participants with cancer, rare disorders, and infectious diseases, and to link the sequence data to a standardised data set of diagnosis treatment and outcomes A world-leading programme in the use of genomics and genetic technologies for participant benefit within the NHS. Integral to this and the adoption of the complete functional genomics pathway from genome sequencing and DNA through to products as metabolites and biomarkers, will be the development of new capability and capacity for genomic medicine within the NHS and the transformation of care delivery A major driver in ensuring that genomic medicine becomes main stream in the NHS in line with the move towards predicting and preventing disease, and more precisely diagnosing disease and personalising treatment 2

100k Genomes Project The Department of Health has established Genomics England … is procuring entities with NHS Genomic Medicine Centre Status to harness the capability and capacity of the NHS across England to contribute to the Project between 2015 and They will be centres that drive excellence in genomic medicine by providing high fidelity clinical data alongside the highest quality samples and feedback of results to participants The overall aims of the Project, as set out in the Genomics England Protocol, are to: Increase discovery of pathogenic variants for rare disease and cancer Accelerate the uptake of genomic medicine in the NHS Stimulate and enhance UK industry and investment Increase public knowledge and support for genomic medicine. Specifically the Project will focus on rare diseases and cancer. 3

Wave 2 Bid for GMC Application to become a Wave 2 NHS Genomic Medicine Centre (GMC) requires centres to explain how they will meet the service specification for an NHS GMC and their mobilisation plan for starting activity, including all contributing partner organisations. This includes the ability to meet Genomics England’s requirements for: – Recruitment of eligible patients with cancer or rare inherited diseases – Obtaining appropriate consent and blood and/or tumour samples from these patients – Capture of clinical information in a co-ordinated way – Transfer of samples and linked data to the Genomics England Central Biorepository – Interpretation of genomic data and feedback of findings to patients within clinical care 4

West of England GMC Partnership Partnership Board AHSN, BSU, CCGs, GHFT, NBT, patient association, RUH, UHB, UOB, UWE, WAHT, AWP Working Groups Cancer, Commercial & Contract, Consent &Communication, Education and Training, Information and Informatics, Laboratory, Rare Disease NOTE: a separate PPI group is not proposed as PPI will underpin all of the working groups The membership of the West of England GMC Partnership Board comprises 17 or more organisations. All of these have expressed commitment to securing a successful outcome to the Wave 2 designation process, led by Genomics England, (GE) which offers the potential for a GMC to be established in the West of England.Genomics England 5

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Urology SSG and WoE GMC Recruitment of patients, return of results Model needs to be developed around existing clinical teams & research infrastructure Discussed utilisation of research staffing through funding model with NIHR Specific consent for use of their samples for whole genome sequencing and their clinical data being made available to the Genome England project and their partners for the purposes of improving the diagnostics and treatment of included conditions, and to be invited to take part in future relevant studies. Unclear yet how these bits will work in WoE – ?Lead organisation will be responsible for ensuring that WoE sites have the relevant approved versions of the information sheets and consent. Appropriate contact details of both local staff and lead organisation staff will be provided to facilitate any queries or requests for further information from potential participants. – ?To ensure that potential participants are fully informed about the study, invitation packs (containing approved versions of the information sheet and consent forms) will be provided – ?Other key points that will be covered include the nature of feedback of pertinent and incidental findings, including a discussion about the likelihood of finding any clinically relevant results and the potential time-frame in which they would become available. 7

Next steps Genomics Medicine Operational Readiness Event - 16th October pm to 5pm, UHBristol The purpose of this event is to: Run through the arrangements that are/ will be in place to recruit the first Rare Disease and Cancer patients to the project from January 2016 Test the robustness of those arrangements and identity challenges Provide solutions to the above Prepare for the site visit by the Genomics England and NHSE team of assessors scheduled for November. Attendees Rare Diseases Working group (Dr Andrew Mumford) and Cancer Working Group(Dr Mark Beresford) Chairs who should be prepared to undertake a presentation as described above. Chairs of the 5 functional working groups (Dr Aniko Varadi, Mrs Janet Burrows, Ms Janina Cross, Ms Maggie Williams, Ms Natasha Sandiford for PPI Core group panel: Mr Sasha Karakusevic, Dr Sean O’Kelly, Ms Eileen Roberts, Dr Ruth Newbury-Ecob, Mr Tony Gallagher and Ms Deborah Evans Specific patient representatives Local Delivery Partner Site leads Invited audience Members of the working groups and partnership boards Clinicians from the tumour SSGs as recommended by Chairs, Dr Mark Beresford and Catherine Carpenter-Clawson Clinicians from the wider Rare Disease list produced by Dr Ruth Newbury-Ecob, eg, Dr Graham Stuart Clinicians and others from RUH, Glos and NBT if not already included 8