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

3. 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

4. 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

6. Includes Cancer and Rare Diseases

7. Genome samples

8. Delivery of the 100,000 Genomes project13

10. West of England Genomics Medicine Centre (WEGMC)

11. WEGMC programme
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.

12. WEGMC Governance structure

13. 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

14. 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)

15. 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

16. 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)

17. 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

18. 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

19. Proposed pathway

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