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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.
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Genomic Medicine CentreOverview 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
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.
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
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