Download WE GMC presentation_May 2016

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
1. Initiative to perform Whole Genome
Sequencing on 100,000 samples from
English NHS patients
2. Make ‘genomic medicine’ part of
standard care
• Diagnosis
• Prognosis
• Personalised treatment
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
1. Complete whole genome sequencing of
4,650 samples from patients and families.
- Consented from now until Sept 2017
2. 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: [email protected]
or
Amanda Pichini, Lead Genomics Practitioner
Email: [email protected]
Or