Download 100k Genomes Project

100k Genomes Project
• Programme of Whole Genome Sequencing, part of UK Life Sciences Strategy
• Aim to sequence 100,000 genomes from patients with cancer and rare disorders
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2 genomes per cancer patient (germline and cancer)
3 from rare disorders (patient and both parents)
• Link sequence data to standardised data set of diagnosis, treatment and outcome
• The overall aims of the Project are to
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Increase discovery of pathogenic variants for rare disease and cancer
Accelerate the uptake of genomic medicine in the NHS
Stimulate and enhance UK industry and investment
Increase public knowledge and support for genomic medicine
“A world-leading programme in the use of genomics and genetic technologies for
participant benefit within the NHS. Integral to this and the adoption of the complete
functional genomics pathway from genome sequencing and DNA through to products
as metabolites and biomarkers, will be the development of new capability and capacity
for genomic medicine within the NHS and the transformation of care delivery”
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West of England GMC Partnership
The West of England GMC Partnership Board comprises 17. All have committed
to securing a GMC in the West of England.
Partnership Board
AHSN, BSU, CCGs, GHFT, NBT, patient association, RUH,
UHB, UOB, UWE, WAHT, AWP
Working Groups
Cancer, Commercial & Contract, Consent &Communication, Education and
Training, Information and Informatics , Laboratory, Rare Disease
NOTE: a separate PPI group is not proposed as PPI will underpin all of the
working groups
Wave 2 GMC bid
• Deadline for pre-qualifying was 28 August 2015, this has been met
• Application document needed to show ability to
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recruit eligible patients with cancer or rare inherited diseases
obtain appropriate consent and blood and/or tumour samples from these patients
capture of clinical information in a co-ordinated way
transfer of samples and linked data to the Genomics England Central Biorepository;
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interpret of genomic data and feedback of findings to patients within clinical care
• Next step is to
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Validate likely recruitment numbers
Determine pathway for recruitment
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PATHWAY COMPONENT
ORGANISATIONS INVOLVED
WORKFORCE AFFECTED
PATIENT IDENTIFICATION
AWP, GFHT, NBT, RUH, WHAT, UHB
PATIENT CONSENT
AWP, GFHT, NBT, RUH, WAHT
TAKE SAMPLE
As above. On a hospital site or is
GP practice involved?
Phlebotomists, clinic staff, GP
practices
TRANSPORT SAMPLE
As above by usual transport
systems
As above + transport and
receiving staff
PROCESS BLOOD SAMPLE
Bristol Genetics Laboratory NBT
EXTRACT DNA FROM BLOOD
Bristol Genetics Laboratory NBT
MOLECULAR PATHOLOGY AND
DNA EXTRACTION FROM
TUMOUR
Bristol Genetics Laboratory NBT
Rare disease clinicians, oncologists,
clinical geneticists and genetic
counsellors
As above + clinic staff
BGL staff
As above
LEAD WORKING GROUP
FOCUS
RD & Cancer, informatics,
education
RD & Cancer, Consent &
Communication
RD & Cancer, informatics,
education
SPECIFICATION REF
3.1
3.1.2
3.3.1 & 3.3.2
RD & Cancer, laboratory
Laboratory
3.3.3
Laboratory
3.3.4
As above
Laboratory
3.3.5
Laboratory
3.3.8
DISPATCH SAMPLES TO GE
BIOREPOSITORY
Bristol Genetics Laboratory NBT
As above
WGS AND POST-ANNOTATION
VALIDATION TESTING
Validation –BGL NBT
BGL NBT
RETURN RESULTS TO PATIENT
AWP, GFHT, NBT, RUH, WHAT-
Recruiting clinicians and
clinical genetics UHB
DELIVER CARE
(TRANSFORMATION AND
IMPROVED OUTCOMES
AWP, GFHT, NBT, RUH, WHAT,
CCG & NHSE Commissioners
AWP, GFHT, NBT, RUH,
WHAT, CCG & NHSE
Commissioners
Laboratory
RD & Cancer, consent &
communication,
education& informatics
RD & Cancer, consent &
communication, education
3.3.9
3.2.6 & 3..4.1
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Proposed Tissue collection pathway
Referral to service
Referral to service
Diagnostic biopsy
PIS sent with appointment for endoscopy
MDT discussion
Patient identification
Consent for GE biopsy
Diagnostic biopsy
GE biopsy
Result/Pre-op clinic
Consent for GE biopsy
Blood sample taken
MDT discussion
Patient identification
Surgery
Biopsy processed for omics
Biopsy taken in pathology
Biopsy processed for omics
Biopsy sent to biobank
Colorectal SSG and WoE GMC
Recruitment of patients, return of results
• Model needs to be developed around existing clinical teams & research
infrastructure (? No additional resource, potentially CRN staff initially)
• Specific consent for use of their samples for
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whole genome sequencing
clinical data being made available to the Genome England project and their partners for
the purposes of improving the diagnostics and treatment of included conditions
to be invited to take part in future relevant studies
• Some uncertainty how this will work in WoE
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?Lead organisation will be responsible for ensuring that WoE sites have the relevant
approved versions of the information sheets and consent.
?To ensure that potential participants are fully informed about the study, invitation
packs (containing approved versions of the information sheet and consent forms) will be
provided
? feedback of pertinent and incidental findings, including a discussion about the
likelihood of finding any clinically relevant results and the potential time-frame in which
they would become available.
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