100k Genomes Project Programme of Whole Genome Sequencing, part of UK Life Sciences Strategy Aim to sequence 100,000 genomes from patients with cancer and rare disorders 2 genomes per cancer patient (germline and cancer) 3 from rare disorders (patient and both parents) Link sequence data to standardised data set of diagnosis, treatment and outcome The overall aims of the Project 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 “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” 1

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 West of England GMC Partnership Board comprises 17. All have committed to securing a GMC in the West of England. West of England GMC Partnership

Wave 2 GMC bid Deadline for pre-qualifying was 28 August 2015, this has been met Application document needed to show ability to recruit eligible patients with cancer or rare inherited diseases obtain 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; interpret of genomic data and feedback of findings to patients within clinical care Next step is to Validate likely recruitment numbers Determine pathway for recruitment 3

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Proposed Tissue collection pathway Referral to service Diagnostic biopsy MDT discussion Patient identification Result/Pre-op clinic Consent for GE biopsy Blood sample taken Surgery Biopsy taken in pathology Referral to service Consent for GE biopsy Diagnostic biopsy GE biopsy MDT discussion Patient identification Biopsy processed for omics PIS sent with appointment for endoscopy Biopsy processed for omics Biopsy sent to biobank

Colorectal SSG and WoE GMC Recruitment of patients, return of results Model needs to be developed around existing clinical teams & research infrastructure (? No additional resource, potentially CRN staff initially) Specific consent for use of their samples for whole genome sequencing 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 to be invited to take part in future relevant studies Some uncertainty how this 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. ?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 ? 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. 6