Genomic Medicine Centre Overview Dr Andrew Mumford - Clinical Director Catherine Carpenter-Clawson – Programme Manager Amanda Pichini - Lead Genomic Practitioner

NHS Genomic Medicine Centres and the 100,000 Genomes Project Dec 2012: PM David Cameron launches project to sequence 100,000 Genomes from NHS patients with cancer and rare disease to cement UK as a world-leader in Genomic Medicine For cancer patients both their own genome and the tumour genome will be sequenced Dec 2014: NHS England establishes first NHS Genomic Medicine Centres to coordinate activity across populations of ~5 million, working to common protocols & specification to ensure comparability and quality of data NHS GMCs work as network model with Lead Organisation working in partnership with other trusts as Local Delivery Partners 2015: Experimental cancer pathway develops early protocols 2015: Cancer initiation phase starts, with experimental work to determine effectiveness of protocols 2016: Cancer Main Programme live, with phased roll-out regionally and by disease site

100,000 Genomes project and genomic medicine Initiative to perform Whole Genome Sequencing on 100,000 samples from English NHS patients Make ‘genomic medicine’ part of standard care Diagnosis Prognosis Personalised treatment

www.genomicsengland.co.uk www.wegmc.org

Includes Cancer and Rare Diseases

Genome samples

Delivery of the 100,000 Genomes project 13

West of England Genomics Medicine Centre (WEGMC)

WEGMC programme 2016-17 Complete whole genome sequencing of 4,650 samples from patients and families. - Consented from now until Sept 2017 Integrate whole genome sequencing into standard clinical care pathways.

WEGMC Governance structure

National Progress with 100,000 Genomes Project - Rare diseases Wave 1 sites have been recruiting rare disease patients for over a year Nationally recruitment is going well but below required trajectories Continued expansion of eligible patient groups Review of different opportunities to expand activity

WE GMC Progress with Rare Diseases Programme All patients referred to the WE GMC rare disease programme are discussed at a relevant MDT Establishment of Genetics MDTs to facilitate referral and discussion (supporting work to develop informatics around this) Decision to hold first clinics in North Bristol due to closeness to the laboratory Staff consenting patients will be part of the Clinical Genetics team (genetic counsellors)

WE GMC next steps for Rare Disease programme Provide clinics at UHBristol to consent patients Provide outreach clinics at Cheltenham, Bath & Weston as required Provide Saturday clinics Develop delivery of consent so staff embedded in existing clinical pathways are able to consent as part of standard pathway

National Progress 100,000 Genomes Project - Cancer Initiation Phase 567 samples achieved and move to main cancer programme earlier this year Initially 5 cancer types identified Breast Colorectal Lung Sarcoma Prostate Expansion in May 2016 to further cancer sites (Brain, Skin, UGI, Testicular, Renal) Ongoing discussions regarding further expansion (haematology and biopsy sampling pathways)

WEGMC Progress with Cancer Programme Decision made to take a phased/pilot approach to the programme for cancer Start consent and pathway work in NBT and breast cancer Good track record for ‘research activity’ Enthusiasm Close links with GMC laboratory teams Funding identified to support consent 0.5 Band 6 funding into entire ‘research team’ will support breast but also roll out to other teams

WE GMC next steps for Cancer Programme Consider establishing breast pathways in Cheltenham, Bath and Weston as appropriate Establish further pathways in NBT – proposed colorectal and brain Establish second pathway in UHBristol (colorectal) Start expansion to other diseases areas (based on numbers, ease of delivery and clinical enthusiasm) Consider the opportunities presented by the biopsy pathway

Proposed pathway

What next? What else do we need to consider? Appreciate your continued support and engagement. Any queries: Catherine Carpenter-Clawson, Programme Manager Email: Catherine.Carpenter-Clawson@nbt.nhs.uk or Amanda Pichini, Lead Genomics Practitioner Email: Amanda.Pichin@UHBristol.nhs.uk Or