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

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

Slide courtesy of NHS England

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

From the 100,000 Genomes Project to Personalised medicine

Cancer and Rare Disease patients and individuals

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

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

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 

West of England Genomics Medicine Centre – our geography

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.

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

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

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

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

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

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

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

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

What next? What else do we need to consider? I appreciate your continued interest and engagement. Any queries: Catherine Carpenter-Clawson Email: Catherine.Carpenter-Clawson@nbt.nhs.uk Tel: 07732 561067

Further Information http://www.wegmc.org/ https://www.genomicsengland.co.uk/ https://www.genomicseducation.hee.nhs.uk/