100,000 Genomes Project: The vision Sue Hill OBE Chief Scientific Officer for England Innovation Standardisation “Transforming healthcare through genomic medicine”
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100,000 Genomes Project: The vision
Sue Hill OBE Chief Scientific Officer for England
Innovation
Standardisation
“Transforming healthcare through genomic medicine”
Project objectives
100,000 whole genome sequences
Discovery of pathogenic variants leading to new treatments, devices and diagnostics
Advance UK life sciences industry and commercial activity in genomics
Accelerate uptake of genomic medicine practice integrated into the NHS
Increase public understanding for genomic medicine
How does it work?
Patients and sometimes their families are referred by their
clinician
Participants read a Patient Information Sheet before being
able to give consent
Blood and resected tissue/biopsy tissue are collected for
patients (cancer or suspected cancer)
Samples are sent to the bio repository at Genomics
England Ltd
A diagnosis may be identified to help treatment
Participants can choose to ask for ‘looked for/additional
findings’ but won’t hear about ‘not looked for’ or ‘incidental
findings’
Results can be used for research to provide greater
understanding of disease
A remarkable achievement
5
Cancer sample collection: actual recruitment against revised target (1490 samples) Sep 2018-Jan 2019
1490
0
200
400
600
800
1000
1200
1400
1600
1800
Sep-18 Oct-18 Nov-18 Dec-18 Jan-19
Target "actual"
1632
1490
6
Cancer patient recruitment as @ 31/01/2019 (n=814)
0
50
100
150
200
250
300
350
400
450
500
Exeter (RDEFT) Plymouth (PHNT) Truro (RCHT) Taunton (TSFT) Barnstaple (NDHT)
Sarcoma
Renal
Prostate
Ovarian
Melanoma
Head & Neck
Haem (Lymphoma)
Haem (CLL)
Haem (AML)
Lung
Endometrial
Colorectal
Breast
Brain
Bladder
The pathway to day:
Samples received and processed by
Exeter DNA lab for extraction
Patients identified at
MDT
Patient given PIS at out patient
appointment
Genomics England Ltd Sequences
DNA
CNS/team takes consent
Results analysed
Discussion with team including
referrer
Histology manage Fresh
Tissue
Samples taken during routine
surgery
1728 referrals
1113 patients gave consent
1039 patients provided a sample 675 peoples
samples sent
241 tissue Samples fail QC 164 results
1023 provided consent and a sample
Cancer Results Management
• Streamlining turnaround • Genomics Tumour Advisory
Board • Recommendation directly to
clinician at cancer MDTs • National template reporting • Patient Involvement
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Cancer Results Management
5 LDPs 43 open pathways Still going… Biopsy and resection pathways
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Cancer Achievement
MDT pro-forma and discussion CNS-led consent Patient support for retrospective consent Theatre scheduling to support Fresh Frozen
pathway Refrigeration to support tissue collection Reduced sample attrition rates Continued development of biopsy pathways and
novel pathways (cytology) Regional specimen transport infrastructure Cross-specialty communication Formation of GTAB for regional review of results Align GTABs to NHSE work on MDT re-
configuration Embedding genomics in site-specific groups
(SSGs)
Cancer transformation
• The 100,000 Genomes Project stopped recruiting 31st December 2018
• NHS England has established 7 Genomic Laboratory Hubs as part of a new Genomic Medicine Service.
• A new test directory is available https://www.england.nhs.uk/wp-content/uploads/2018/08/national-genomic-test-directory-cancer.xlsx
• SW Genomic Medicine Centre will be working closely with all partner Trusts and the Site Specific Groups (SSGs) to update teams on the changes taking place across the Genomic Medicine Service.
• National and local programs of education and training will be supported through the clinical and scientific expertise in the region
• Work will continue across the region to ensure fresh tissue pathways at centres and LDPs
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H*
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Regional Delivery Infrastructure
13 Sites [H] Cheltenham General Gloucester Royal Southmead Hospital Bristol Royal Infirmary Bristol Royal Childrens’ Royal United Hospital, Bath Musgrove Park, Taunton Yeovil District Royal Devon and Exeter North Devon District, Barnstaple Torbay and South Devon Derriford, Plymouth Treliske, Truro
Population: >5,000,000 Span: >200 miles GMCs: 2
2 Central laboratories [L] Bristol Genetics Laboratory Exeter Genetics Laboratory
L
L
Genomic Laboratory Hubs
Genomics in the South West: Past
Two Genetics Laboratories
Two Clinical Genetics Services
Two Genomic Medicine Centres
Informal working relationships
Genomics in the South West: Present One Genomics Laboratory Hub
Two Clinical Genetics Services
Working towards one (virtual) Genomic Medicine Centre
Formal working relationship via GLH Partnership Board
NHS Genomic Medicine Service
Strategic Oversight
NHS Genomic Medicine Service
Built on existing provision – developing capacity and capability to deliver future technologies
+ Strong ethical framework & effective consent + Reflecting diversity of the population
Workforce development
Informatics systems
& data store
Genomic Medicine Centres & Genomic
Clinical Services
Industry/ academic/ international partnerships
National Whole Genome Sequencing
Provision
National Genomic Labs
network (delivered by 7 hubs)
Genomic Data Interpretation
National Test Directory
with HEE GEP
with Genomics England
Barnstaple
Yeovil
Taunton
Torbay
Plymouth
Truro Lead Organisation:
Royal Devon and Exeter NHS FT
SRO: Prof Adrian Harris Director: Prof Sian Ellard
Cancer Lead (Deputy Director): Mr John McGrath Rare Disease Lead: Dr Charles Shaw-Smith
Project manager: Ana Juett
E-mail the team [email protected]
or call 01392 408565/408177
website http://swgmc.org/
Genomic Nurse Champions
Amanda Skinner
Sarah Haywood
Ana Juett Project Manager
Jocelyn Watson
Genomic Nurse Champions
100,000 Genomes Team:
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