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Four main aims
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1. To bring benefit to NHS
patients
2. To create an ethical and transparent
programme based on consent
3. To enable new scientific
discovery and medical insights
4. To kickstart the development of a UK genomics industry
13 September 2015
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What will we be telling participants?• Information about a patient’s main condition
• Information about ‘serious and actionable’ conditions (optional)
• Carrier status for non affected parents of children with rare disease (optional) Image courtesy of Health Education England
13 September 2015
Principal Partners
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NHSEand GMCs
GeCIP
IndustryPartnerships
Genomics England
Illumina
13 September 2015
Rare diseases studied
• A growing repertoire
• 131 disorders to date• each with specific eligibility criteria• each with tailored clinical data collection models• each with diagnostic-‐grade gene panel for initial report
• Pattern of family members recruited reflects likely pattern of inheritance:• Proband-‐mother-‐father trio in simplex cases• Multiple affected individuals +-‐ parents in other scenarios
613 September 2015
NHS Genomic Medicine Centres• Clinical samples and hospital data• Laboratory processing including molecular pathology• Broad consent for research and re-contact
Bio
rep
osito
rySe
que
ncin
g
DNA & samples for multi-omics
Clinical Data
• Identifiable clinical data• Longitudinal • Linked to genomic data
Research Data• Pseudonymised• GeCIP and industry partners
work within data centre
Clinicians & Academics
TrainingIndustry
Part
icip
ants
Dat
a
Fire wall
Existing Clinical DataCancer &RD registries, HES, Mortality data, etc
Data and Analysis Improvement
• Annotation & QC• Scientists/SMEs• Product comparison
Oversight: Funding:
Establishment Phase• Illumina -‐ NHS Genomic Medicine Sequencing Centre in Hinxton• UK Data Infrastructure for Genomic Medicine (with MRC)• NIHR National Biosample Centre -‐ £24 million state-‐of-‐the-‐art facility to store the samples • 11 NHS Genomic Medicine Centres in England to enrol, validate and feedback to patients
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Data CentreNHS Genomic Medicine Sequencing Centre NIHR Biosample centre
13 September 2015
NHS Genomic Medicine Centres• Eleven Genomic Medicine Centres (GMCs) established in December 2014 by NHS England. These centres will lead the way in delivering the 100,000 Genomes Project.
• Track-‐record of providing excellence in genomic services.• Eligible patients will be referred to GMCs by their clinicians.• First patients recruited by Manchester GMC in March.
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Genomics England Clinical Interpretation Partnership (GeCIP)
• Launched at the Wellcome Trust in June 2014• Partnership between over 2,000 researchers from academia and the NHS, trainees, plus international collaborators.
• Designed to accelerate academic/industry partnership and development of diagnostics and therapies
• Over 30 topics (domains) of research and most domains cover a single disease or group of diseases and some are wider. These include epigenomics, health economics and technology.
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Working with the research community
• All data generated contributes to the Genomics England Dataset
• Second round of applications Aug-‐Oct. New domains announced in December 2015
13 September 2015
GENE Consortium
• Ten companies have come together to create the Genomics Expert Network for Enterprises (GENE) Consortium to oversee a year-‐long Industry Trial• Aims to identify most effective and secure way of bringing industry expertise into the 100,000 Genomes Project in order to realise the potential benefits for patients.• AbbVie, Alexion, AstraZeneca, Berg, Biogen, Dimension Therapeutics, GSK, Helomics, Roche, Takeda
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Working with industry
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Health Education England
• 9 University providers of MSc in Genomic Medicine – aimed at NHS healthcare professionalsworking in England
• HEE -‐ Genomics Education Programme, online training courses and resources • University of Birmingham• Newcastle University• University of Manchester• University of Sheffield• Imperial College London• Queen Marys University of London• St Georges, University of London• University of Cambridge• University of Southampton
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Upskilling the workforce
13 September 2015
What can we expect from this Project?
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Patients • Feedback on min findings – which will get quicker and better informed as the project progresses
• If the patient opts for it, feedback on secondary findings – again this will develop as the project progresses
• Access under strict governance rules to the increasing dataset and a suite of best in class tools
• Engagement in a collaborative programme with leading scientific and clinical experts
• Opportunity to share in the publication of findings• Opportunity to engage in translation opportunities
with industry collaborators
Research Collaborators
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What can we expect from this Project?
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Industry
General Public
• A number of mechanisms to gain access to the dataset and tools under strict governance rules
• Engagement with the research collaborators and access to expert clinical and bioinformatics support
• Opportunity to address relevant patient cohorts both through the Genomics England dataset and through other UK collaborations
• Possibility of significant advances in diagnostic markers of genetic diseases
• Possibility of new understanding of mutations causing progress of common cancers
• Possibility of fresh insights into genetic markers for common diseases
13 September 2015
Progress so far
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• Over 5,000 participants have already agreed to take part as part of the pilots: 3,500 in rare diseases and almost 2,000 in cancer.
• We have already delivered over 2,300 whole genome sequences, and we are starting to interpret these to help patients.
• Dependent on samples passing quality control, we will have 5,000 whole genome sequenced by the end of August 2015
• These first 5,000 sequences are from the pilot phase and ourGeCIPdomains and GENE Consortiumpartners will shortly begin working with this data
• http://www.genomicsengland.co.uk/100000-‐genomes-‐project-‐update/
13 September 2015