1. The 100,000 Genomes Project and the West of England Genomic Medicine Centre
Brief update and overview provided by Catherine Carpenter-Clawson, Programme Manager, WE GMC

2. Contents Introduction to the 100,000 Genomes Project
Aims & objectives of the project
Introducing Genomics England & Genomic Medicine Centres
Progress in cancer to date
National
Within the West of England Genomic Medicine Centre

3. Slide courtesy of NHS England

4. 100,000 Genomes project and genomic medicine - aims
Initiative to perform Whole Genome Sequencing on 100,000 samples from NHS patients
Make ‘genomic medicine’ part of standard care
Diagnosis
Prognosis
Personalised treatment

5. From the 100,000 Genomes Project to Personalised medicine

6. Cancer and Rare Disease patients and individuals

7. Who are Genomics England?
Genomics England is a wholly owned company of the Department of Health.
Genomics England was set up to deliver the 100,000 Genomes Project by:
Creating Genomic Medicine Centres
Commissioning/working with a company Illumina to sequence 100,000 genomes
Setting up Genomics England Clinical Interpretation Partnerships (GECIPs) to lead the clinical analysis

8. What is a Genomic Medicine Centre?
A group of NHS providers (and other key local organisations) who have come together to support delivery of the 100,000 Genomes Project
We are ordinary NHS staff seconded to work on the project and set it up alongside existing clinical practice
We are not building a big new centre or working outside of existing NHS structures

9. NHS Genomic Medicine Centres
NHS Genomic Medicine Centres (NHS GMCs) : mapped against AHSN boundaries
NHS GMCs work in partnership with academia, patients and industry through the AHSNs 

10. West of England Genomics Medicine Centre – our geography

11. West of England Genomics Medicine Centre – our objectives
Complete whole genome sequencing of 4,650 samples from patients and families.
Anticipated approximately 50% samples would be cancer samples
From patients consented from now until Dec 2018
Integrate whole genome sequencing into standard clinical care pathways.

12. Contents Introduction to the 100,000 Genomes Project
Aims & objectives of the project
Introducing Genomics England & Genomic Medicine Centres
Progress in cancer to date
National
Within the West of England Genomic Medicine Centre

13. Nationally samples below anticipated levels though multiple pathways open
Cancer 4 week average is 100 samples per week as of 28th April 2017
Well below required ‘run rate’ nationally

14. WE GMC Cancer Samples collected as of 25th April 2017
All activity at NBT except 9 breast patients from GHNFT 52 14 1
Project focussed on 5 cancer types now most patients included 1
70 patients

15. Cancer roll out programme
Key Milestones:
Breast- NBT live
Glos first patients consented
Bath received ‘go live’ awaiting consent
Weston exploratory engagement
Brain- NBT live but needs review
Colorectal- NBT live
Glos ready for ‘go live’
UHBristol & Bath clinical engagement ongoing
Haem Onc- first patient CLL consented
Other sites and teams have expressed interest – clinical enthusiasm is high

16. Specimen transport team
Proposed pathway
Pathology
GPs
Imaging
Consultants
Nursing staff
Specialists
Breast Care
Research team
Theatre team
Clinic management
MDT co-ordinators
Specimen transport team
IT experts
How do you develop a pathway? – the key is engagement at every step of the pathway…..
Tumour laboratory
Blood laboratory
Managers
Reception
Processing

18. Brain cancer genome samples
Key Considerations:
Referral
Who is responsible for identifying eligible patients?
Consent
Who is best placed and has sufficient time for discussion
Sample collection
Separate blood tubes required
Tumour DNA damaged by formalin fixing so fresh tissue is required
Can we collaborate with the biobank pathway?
Would it be appropriate to approach patients post surgery?
Engagement
Everyone in the pathway has to be on board

19. What are the next steps for brain cancer patients at WE GMC?
Review patients with stored samples and agree pathway for access
Share identified patients (those with sufficient tumour) with clinical team
Check the key IT systems (Lorenzo and Somerset cancer register) to confirm status of the patient
Send a covering letter offering the patients the opportunity to take part and including  the introductory leaflet about the project
Letter will note consent team plan to follow up with a phone call
Research nurse consenting team will attempt to make contact with the patient to gauge interest in participating
Interested patients will be offered an appointment in the Clinical Research Centre to consent and give blood
Once consented their stored tissue sample will be sent for sequencing
Results anticipated in approx 12 months via Genomics MDT
Review prospective pathway
Potential to offer additional hours for staff to support consenting?
Potential to approach patients post surgery?
How else can we improve pathway activity

20. What are the next steps for cancer within the WE GMC?
Short-term
Continue to expand open pathways and review processes
Agreement for small amount of additional funding to ‘facilitate consent’
Offer additional hours for staff to support consenting
Clinical Nurse Specialist teams?
Cancer Research teams?
Others local enthusiasts with appropriate skills?
How to support upskilling and education of the existing workforce
Longer term
How do we prepare for next generation sequencing in mainstream cancer practice?
Need to consider the impact on clinical pathways, commissioning, staff training, education and resources
Nationally not clear if all patients will receive whole genome sequencing
Key changes to patient treatment could anticipated

21. What next? What else do we need to consider?
I appreciate your continued interest and engagement.
Any queries:
Catherine Carpenter-Clawson
Tel:

22. Further Information http://www.wegmc.org/