The 100,000 Genomes Project Genomics Collaboration Event Finnish Residence Prof Mark Caulfield FMedSci Chief Scientist for Genomics England Barts Heart Centre William Harvey Research Institute Queen Mary University of London
Cancer, rare disease, infection Genomics England Mission Sequence 100,000 whole genomes Capture data delivered electronically, store it securely and analyse it within an English data centre (reading library) Genomes with electronic clinical information for longitudinal life course analysis, interpretation, and aggregation Transform the NHS capacity, capability and leave a legacy in personalised medicine to generate health and wealth for the UK 1. To bring benefit to NHS patients 3. To create an ethical and transparent programme based on consent 2. To enable new scientific discovery and medical insights 4. To kickstart the development of a UK genomics industry
The 100,000 Genomes Project 04 November 2016 3
Genomics England The Big Data Potential 13 NHS Genomic Medicine Centres Rare diseases, cancers and pathogens Broad consent, characteristics, molecular pathology and samples NIHR Biosample Centre DNA & multi-omics Repository Sequencing Centre Wellcome Trust 27m Illumina Partnership Refreshable identifiable Clinical Data Life-course registry Linked to anonymised Whole Genome Sequence Oxford Big Data NHS Digital Primary Care Hospital episodes Cancer Registries Rare Registries Infectious Disease Mortality data Patient entry Fire wall Patient data stays in safe haven MRC 24m Research Data Infrastructure Sequential builds of pseudonymised data and WGS Safe haven- Reading library Annotation & QC SME Product comparison Only processed results pass outside Clinicians & Academics 25m in Training 700 person years Industry GENE Consortium
New Sequencing Centre at Hinxton US genomics giant Illumina building new European HQ in Cambridge - 500 jobs 60 M
Rare Inherited diseases 5000 people in the pilot 18,000 in the main programme <5% of the population 7000 rare diseases 150/200 disorders Detailed standardised eligibility & characterisation Prior genetic testing usual care Human Phenotyping Ontology Disease progression WGS 30X
Newborn with severe immunodeficiency Closely related parents New born in ITU from birth Recurrent infections Fluctuating neurology Unexplained lots of tests Child died at 4 months with no diagnosis Parents and deceased child join the 100,000 Genomes Project at their request Mum becomes pregnant and declines all testing but at 8 months becomes anxious Mutation identified, NHS validate it, fed back
Sequencing cancer genomes The diagnostic and the genomic biopsy Cancer programme Gear 1- mainstream supply of fresh frozen tissue Gear 2- small studies Gear 3- trials Cancer is challenging Transforming molecular pathology High calibre genomes Actionable 25-40% of the time Working on lung, breast, colon, prostate, ovary, sarcoma, renal, haematological oncology Adopting bladder, brain, testis, childhood cancer, unknown primary
Infections and Pathogens 3000 Multi-drug resistance TB strains NHS implementing TB sequencing for diagnosis Global registry of TB resistance
Genomics England Clinical Interpretation Partnership Matina Prapa, Simon Thompson and Kate Witowska
Why do we need a Clinical Interpretation Partnership? The standard way The GeCIP way Start 2014 17 yrs?3 yrs Securing Patient Benefit
Information about a patient s main condition What are we telling Information about additional serious and actionable conditions (optional) participants? Carrier status for non affected parents of children with rare disease (optional) Image courtesy of Health Education England 04 November 2016 12
Industry Consortium and Partners 12 pharma/diagnostics/smes Precompetitive consortia Work together on 5000 WGS to shape data centre Individual company interactions Inward investment from Illumina 50m in new HQ in Cambridge AbbVie Alexion Pharmaceuticals AstraZeneca Biogen Dimension Therapeutics GSK Helomics Roche Takeda Berg Boehringer Ingelheim UCB
International Country Description Status Details of joint working Canada Australia Genome British Columbia/ Canada Garvan Institute Australian Genomes MoU signed MoU signed Estonia Central biobank Meeting held Denmark Norway 5 regional health sectors & central biobank National hub & spoke model Meeting held & visit undertaken Meetings held Partnership projects under consideration GMC Data Visualisation Intellectual disability Potential for national collaboration France INSERM & Genopole Meetings held 600m Euros Singapore National initiative Meeting held Some funds Japan National Initiative Multiple meetings held Circa 70m programme
Building the future of genomic medicine 100,000 WGS on NHS patients and pathogens Concentrating the UK Genomics Knowledgebase in one location The NHS, academics and industry partnerships at the outset to drive Genomic Medicine into the NHS and create wealth Building the human capacity and capability Key international partnerships to add value Leave a legacy of NGS Centres, sample pipeline and biorepository, large-scale data store that makes this usable by the NHS New diagnostics and therapies and opportunities for patients
More information and jobs http://www.genomicsengland.co.uk/ https://twitter.com/genomicsengland?ref_src =twsrc%5etfw http://www.genomicsengland.co.uk/aboutgenomics-england/opportunities/