The Festival of Genomics & Biodata

Total Page:16

File Type:pdf, Size:1020Kb

The Festival of Genomics & Biodata Time Time GMT EST The Festival of Genomics & Biodata - Agenda Day 1 An Update on Genomics in the NHS 9.00 4.00 Dame Sue Hill, CSO, NHS England 9.30 4.30 Seven Bridges - Talk Title TBA 10.00 5.00 KEYNOTES UK/EUROPE Keynote Plenary Panel Discussion 10.30 5.30 Poster Presentations + Exhibition Hall CLINICAL GENOMICS GENOMICS IN RESEARCH A GENOMICS IN RESEARCH B BIODATA CANCER GENOMICS MASTERMIND SESSIONS YOUNG SCIENTISTS Panel: Is Machine Learning the Key to Uncovering Genomic Evidence for Unlocking RWE? Reinfection with SARS-CoV-2: a Case Structural variants at BRCA1/2 and Clinical Microbial Metagenomics and Exploring the Clinical Application of Study HR deficiency in Tumours Fecal Microbiota Transplantation Single Cell Analysis in Liquid Biopsy Paul Agapow, Health Informatics Director, Interactive sessions moderated with 11.00 6.00 AstraZeneca 3-4 starting contributors & audience Joel R Sevinsky, Principal, Theiagen Ailith Ewing, UKRI Innovation Fellow, Florian Fricke, Professor, University Victor Neduva, Senior Principal Scientist, Bernhard Polzer, Head of Molecular participation Consulting LLC University of Edinburgh of Hohenheim MSD Diagnostics, Fraunhofer ITEM Sponsored by Qiagen Natalie Gavrielov, Senior Data Scientist, Roche 11.30 6.30 Shaping the Disease Microbiome with A Complete Workflow for Analysis of 11.40 6.40 Dietary and Lifestyle Interventions cfDNA: From Plasma to Variants Panel: COVID-19 & Genomics - The Sponsor slot available - email BIONANO Genomics- Talk title to be Gianni Panagiotou, Head Systems Biology Nicole Roseman, IDT UK's response [email protected] for announced shortly and Bioinformatics, Leibniz Institute of Shilpa Parakh, Beckman Coulter Life details Natural Product Research and Infection Sciences MASTERMIND Angela Douglas, Deputy CSO, NHS Biology Hans Knoll Institute(HKI) LIQUID BIOPSY Sponsored by Beckman Coulter Life GENOMIC MEDICINE England Sponsored by Novogene Sciences HUMAN MICROBIOMEHUMAN 11.50 6.50 Tom Fowler, Deputy Chief Scientist, Genomics England A Time to Sequence in Clinical Machine Learning Approaches to STRUCTURAL VARIATION STRUCTURAL DETECTION How can we support and foster Richard Scott, Clinical Director, Cytogenetics The Gut Microbiome in ANALYSIS GENOME ADVANCING DATA Drug Resistance and Variant Effect Addressing the Challenges of Pre- innovation in the UK Genomics Genomics England Inflammatory Bowel Diseases Prediction Analytics of Liquid Biopsies ecosystem via entrepreneurship? 12.00 7.00 Naomi Allen, Chief Scientist, UK Cynthia Morton, Director of BioBank Cytogenetics, Brigham and Women’s Melanie Schirmer, Group Leader, John Overington, Chief Information Pamela Pinzani, Associate Professor, Karen Spink, Innovate UK Hospital, and Institute Member, Technical University Munich Officer, Catapult Medicines University of Florence Broad Institute of MIT and Harvard Discovery Live Lounge Lunch Talks 12.30 7.30 Saliva as a diagnostic tool for COVID-19: A comprehensive extraction-based workflow from collection to detection - Kiranmai Durvasula, Product Manager, Omega Bio-tek, Inc 12.45 7.45 Seven Bridges - Talk title to be announced shortly 13.00 8.00 LabTech - Talk title to be announced shortly 13.15 8.15 Deciphering the Methylome: Enzymatic Methyl-seq, a new alternative to bisulfite sequencing - Adam Peltan, Senior NGS Technical Application Specialist, New England Biolabs 13.30 8.30 Networking Break + Exhibition Hall CLINICAL GENOMICS GENOMICS IN RESEARCH A GENOMICS IN RESEARCH B BIODATA CANCER GENOMICS MASTERMIND SESSIONS YOUNG SCIENTISTS The Microbiome of Idiopathic Exploiting the Multiple Modalities Exploring the Somatic-Germline Genomically Humanised Mouse Clinical Utility of Liquid Biopsies Neurodegenerative Diseases Underpinning Population Diversity Interface in Precision Oncology: A Models of Neurodegenerative (MIND) using AI and XAI Clinical Perspective Disease Interactive sessions moderated with 13.40 8.40 Klaus Pantel, Chairman, Department 3-4 starting contributors & audience of Tumor Biology, University Medical J. Christopher Ellis, Senior Staff Jean-Baptiste Cazier, Director of the Anju Kulkarni, Consultant Genetic Thomas Cunningham, Senior participation Center Hamburg-Eppendorf Scientist, Oak Ridge National Centre for Computational Biology, Counsellor, Guy's and St Thomas' Investigator Scientist, MRC Laboratory University of Birmingham NHS Foundation Trust 4 poster presentations from Young 14.10 9.10 CRISPR Validation and Resolving Scientists Complex Genomics Landscapes with Xdrop™ Sponsor slot available - email Eppendorf - Talk title to be Promega - Talk title to be 14.20 9.20 [email protected] for Peter Mouritzen, Vice President announced shortly announced shortly details Application and Market Development, Samplix MASTERMIND YOUNG SCIENTISTS CLINICAL SEQUENCING 14.30 9.30 Sponsored by Samplix PRECISION ONCOLOGY MICROBIOME SEQUENCING Accelerating the speed of discovery: Case Study: Liquid Biopsy Mining the Unannotated Human Precision Oncology Therapeutic ADVANCING GENOME DATA ANALYSIS GENOME ADVANCING DATA Exome Sequencing of Large Cohorts Improving NGS success rates while Proteome Reveals a Novel DoMI, a Database of Microbe-Host Development Can Guide Drug Discovery reducing costs Catherine Alix-Panabieres, Director GENOME COMPLEXITY VALIDATING ENGINEERED Regulator of mTOR Signaling Interactions for Drug Discovery 14.40 9.40 of Laboratory of Rare Human Andrew Biankin, Director of the Paul Nioi, Senior Director, Research, Ana Dinarina, Thermo Fisher Circulating Cells, The University of Alexandra Khitun, Postdoctoral Julia Maritz, Senior Scientist, Merck Wolfson Wohl Cancer Research Alnylam Pharmaceuticals Scientific Montpellier Researcher, Harvard University Centre, University of Glasgow 15.10 10.10 Poster Presentations + Exhibition Hall CLINICAL GENOMICS GENOMICS IN RESEARCH A GENOMICS IN RESEARCH B BIODATA CANCER GENOMICS MASTERMIND SESSIONS YOUNG SCIENTISTS Panel: Are Long-Reads the End of Short- Reads? Using Whole Exome Sequencing Talk Title TBA David Smith, Professor, Mayo Clinic Digital Pathology at the Intersection Data to Understand Autoimmune NGS in CRUK's Precision Oncology of Genomics, Big Data and AI Phenotype Portfolio Mike Hubank, Head of Clinical Genomics, Interactive sessions moderated with 15.40 10.40 Meriel McEntagart, Consultant The Royal Marsden NHS Foundation Trust 3-4 starting contributors & audience Geneticist, St George's University Matt Loose, Professor, University of Steven Hart, Senior Associate Sarah Ennis, Professor of Genomics Maria Antonietta Cerone, Research participation Hospital Nottingham Consultant, Mayo Clinic with Medicine, University of Programme Manager, CRUK Andrew Beggs, Professor, University of Southampton Birmingham 16.10 11.10 Identification of 370 Loci for Age at Onset Enabling Genomic Medicine: of Sexual and Reproductive Behaviour, Analysis at Scale Highlighting Common Aetiology with Sponsor slot available - email Sponsor slot available - email Reproductive Biology, Externalizing Eurofins - Talk title to be announced 16.20 11.20 [email protected] for [email protected] for Behaviour and Longevity Nick Lench, Chief Scientific Officer, shortly details details Congenica Natalie van Zuydam, Senior Statistician, NGS TESTING Sponsored by Congenica MASTERMIND Data Science and Quantitative Biology, YOUNG SCIENTISTS GENOMIC MEDICINE 16.30 11.30 AstraZeneca 4 poster presentations from Young LONG SEQ RANGE & MAPPING Scientists Integrating Genomics into Routine From Monogenic to Complex Opportunities and Challenges of Using Hybrid Genome Assembly to Histogenomics and Beyond: ANALYSIS GENOME ADVANCING DATA NGS Technologies that are Driving Clinical Practice: Improving HISTO-GENOMICS & DIGITAL PATHOLOGY Disease – Evolving Insights from Applying ML to Biological Explore Plasmid Diversity in Non- Unleashing the Power of Digital New Cancer Therapies Outcomes and Avoiding Harm Genetic Rare Diseases Experiments Clinical Bacterial Populations Pathology for Precision Medicine 16.40 11.40 Jadwiga Bienkowska, Senior John McDermott, Academic Clinical Guillermo del Angel, Sr. Director, Annalisa Pawlosky, Research Liam Shaw, Postdoctoral Fellow, George Yousef, Chief of Paediatric Director, Head of Computation Fellow, Manchester Centre for Data Science, Genomics and Scientist, Google University of Oxford Laboratory Medicine, SickKids Biology Oncology R&D, Pfizer Genomic Medicine Bioinformatics, Alexion 17.10 12.10 Networking Break + Exhibition Hall NHGRI's Genomic Strategic Plan 17.30 12.30 Eric Green, Director, National Human Genome Research Institute Advancing Medicine Through Data Sharing and Collaboration on a Global Scale 18.00 13.00 GLOBAL KEYNOTES GLOBAL Heidi Rehm, Chief Genomics Officer, Massachusetts General Hospital, and Institute Member, Broad Institute of MIT and Harvard 18.30 13.30 Post-Festival activity – announcement coming soon Time Time GMT EST The Festival of Genomics & Biodata - Agenda Day 2 9.00 4.00 Lord Bethell of Romford, Parliamentary Under Secretary of State (Minister for Innovation), UK Department of Health and Social Care Ready for Lift Off: The Next Decade of Human Genomics 9.30 4.30 Ashley Van Zeeland, PhD. MBA, Vice President, Product Integration and Customer Collaboration, Illumina Updates on the UK Biobank for 2021 and Beyond 10.00 5.00 KEYNOTES UK/EUROPE Mark Effingham, Deputy CEO, UK BioBank 10.30 5.30 Poster Presentations + Exhibiton Hall CLINICAL APPLICATIONS OF DRUG DISCOVERY AND RESEARCH TECHNOLOGY HEALTHCARE DATA RARE DISEASES MASTERMIND SESSIONS START-UP ZONE GENOMICS
Recommended publications
  • 2016 Chief Scientific Officer's Healthcare Science Event Church House Conference Centre Westminster, Dean's Yard, London SW1P 3NZ
    #LTF16 Leading the Future: THE VISION FOR 2020 2016 Chief Scientific Officer's Healthcare Science Event Church House Conference Centre Westminster, Dean's Yard, London SW1P 3NZ Day 1 – Monday 29 February 2016 Time Programme item 10.00 REGISTRATION & REFRESHMENTS 10.30 Welcome Vivienne Parry OBE, Science Writer & Broadcaster Professor Sue Hill OBE, Chief Scientific Officer Session 1: Science at the heart of the NHS 10.40 Challenges and opportunities in healthcare Sir Bruce Keogh, NHS Medical Director, NHS England 11.00 Strategic direction: Cancer Taskforce Professor Jane Maher, Joint Chief Medical Officer, Macmillan Cancer Support 11.20 Strategic direction: Delivering the Workforce of the Future Dr Nicki Latham, Chief Operating Officer, Health Education England 11.35 Strategic direction: The Future of Prevention and Population Health Dr Felix Greaves, Deputy Director, Science and Strategic Information, Public Health England 11:50 Question Time 12.10 Strategic direction: New Care Models Sam Jones, Director, New Models of Care, NHS England 12.30 Lunch & Exhibition Session 2: Healthcare scientists delivering the change 13.30 PARALLEL SESSIONS (13.30 – 15.00) Masterclasses: These lively sessions aim to give people skills in telling and using their own stories as a leadership art, one which will connect with and inspire others; in addition, a few of the Higher Specialist Scientist Trainees who have already been through a leadership training programme and produced particularly powerful narratives for their associated assignment will be coached in front of the audience to deliver their story with impact. Masterclass 1 (Bishop Partridge Hall): Elaine Clarke, Programme Director BSc Management, Alliance Manchester Business School Masterclass 2 (Convocation Hall): Dr Peter Birch, Creativity and Leadership Specialist, Alliance Manchester Business School In conversation sessions: The aim of these workshops is to give our delegates the opportunity to understand the viewpoint and challenges faced by others in the system and build confidence that they can be part of the solution.
    [Show full text]
  • Developing the Long Term Plan for the NHS
    9 August 2018 Developing the long term plan for the NHS Today NHS England and NHS Improvement have published a document on developing the long term plan for the NHS. This briefing summarises the document; outlines what we know about the plan; our view on the process and development of the plan; and how we plan to engage in its development. As ever, we welcome member thoughts or input on this and anything in the wider briefing. Please contact Chris Hopson, Chief Executive ([email protected]) or Amber Jabbal, Head of Policy ([email protected]) with any feedback. Overview of the five and ten year plans In March, the Prime Minister committed to a “sustainable long term plan” for the NHS backed by “a multiyear funding settlement”. She expanded on this in June, confirming a new funding settlement for the NHS of an average of 3.4% real terms increase over the next five years. Mrs May also tasked the NHS with producing a 10 year plan in return for the increase in funding, setting out how the service intends to deliver major improvements. The timing of the plan’s publication is expected to coincide with the autumn Budget, where the funding uplift, and how it will be funded, will be formally set out. Further detail is set out in the next section. The government’s priorities and tests for the plan The Prime Minister set a number of priorities for the 10 year plan. They include: • “getting back on the path to delivering agreed performance standards – locking in and further building on the recent progress made in the safety
    [Show full text]
  • Board Meeting Held in Public
    OFFICIAL BOARD MEETING HELD IN PUBLIC Date/Time Thursday, 30 March 2017 – 10:45 to 12:45 Location Rooms 102A & 124A, Skipton House, London MINUTES RECORD OF MEETING 1. Welcome, Introduction & Apologies 1.1 The Chairman welcomed everyone to the meeting, noting that the Board is committed to openness and transparency. The Board transacted its business in public, though it was not a public meeting. 1.2 There were no apologies for absence. 1.3 The following declarations of interests in respect of specific items on the agenda for this meeting were made: • Professor Sir John Burn recorded a new role as specialist advisor to the House of Commons on Genomics, which he had undertaken with an understanding that he would speak in relation to his NHS role. • David Roberts recorded that he had family members who worked in General Practice. 1.4 The Board agreed that neither declaration would exclude participation in the relevant discussions. 1.5 The Chairman welcomed Professor Sue Hill, Chief Scientific Officer, and Rosamond Roughton, Director of NHS Commissioning, who were in attendance for the agenda items on Genomics and General Practice Services respectively. 2. Minutes of the Previous Meeting 2.1 The minutes of the meeting held on 9 February 2017 were approved. There were no matters arising. 3. Chairman’s Report 3.1 The Chairman informed the Board that, along with the Chief Executive, he had recently attended a regular accountability meeting with the Department of Health, during which the draft Mandate for 2017-18 had been discussed. 3.2 He reported that he had attended meetings with NHS Improvement and also other Arm’s Length Bodies, many jointly with the Chief Executive.
    [Show full text]
  • 100000 Genomes and Genomics England
    100,000 Genomes & Genomics England Tim Hubbard Genomics England King’s College London, King’s Health Partners Wellcome Trust Sanger Institute Global Leaders in Genomic Medicine Washington 8-9th January 2014 UK Health System 101 • Four separate health services – NHS England – NHS Wales – NHS Scotland – Health & Social Care in Northern Ireland (HSC) • NHS (England) – ~1.4 million employees – ~£110 billion annual budget • Structure in England changed 1st April 2013 https://www.gov.uk/government/organisations/department-of-health Linking Health data to Research Clinical Data Healthcare Professional World Genotype Electronic Health Record Whole Genome Sequencing Phenotype Electronic Genomic Biology Health Data World Records Reference Genotype and genome sequence Phenotype ~3 gigabytes relationship capture EBI: repositories (petabytes of genome sequence data) Human sequence data Sanger: sequencing repositories (1000 genomes, uk10K) Steps in UK towards E-Health Research, Genomic Medicine • Health data to Research – 2006 Creation of OSCHR • Increase coordination between funders: MRC and NIHR – 2007 OSCHR E-health board • Enable research access to UK EHR data • Build capacity for research on EHR data • Genomics to Health – 2009 House of Lords report on Genomic Medicine – 2010 Creation of Human Genomic Strategy Group (HGSG) 2011: UK Life Sciences Strategy No10: http://www.number10.gov.uk/news/uk-life-sciences-get-government-cash-boost/ BIS/DH: http://www.dh.gov.uk/health/2011/12/nhs-adopting-innovation/ Linking Health data to Research Clinical Data
    [Show full text]
  • Functional Effects Detailed Research Plan
    GeCIP Detailed Research Plan Form Background The Genomics England Clinical Interpretation Partnership (GeCIP) brings together researchers, clinicians and trainees from both academia and the NHS to analyse, refine and make new discoveries from the data from the 100,000 Genomes Project. The aims of the partnerships are: 1. To optimise: • clinical data and sample collection • clinical reporting • data validation and interpretation. 2. To improve understanding of the implications of genomic findings and improve the accuracy and reliability of information fed back to patients. To add to knowledge of the genetic basis of disease. 3. To provide a sustainable thriving training environment. The initial wave of GeCIP domains was announced in June 2015 following a first round of applications in January 2015. On the 18th June 2015 we invited the inaugurated GeCIP domains to develop more detailed research plans working closely with Genomics England. These will be used to ensure that the plans are complimentary and add real value across the GeCIP portfolio and address the aims and objectives of the 100,000 Genomes Project. They will be shared with the MRC, Wellcome Trust, NIHR and Cancer Research UK as existing members of the GeCIP Board to give advance warning and manage funding requests to maximise the funds available to each domain. However, formal applications will then be required to be submitted to individual funders. They will allow Genomics England to plan shared core analyses and the required research and computing infrastructure to support the proposed research. They will also form the basis of assessment by the Project’s Access Review Committee, to permit access to data.
    [Show full text]
  • Genomics England and Sciencewise Evaluation of a Public Dialogue On
    Genomics England and Sciencewise Evaluation of a public dialogue on Genomic Medicine: Time for a new social contract? Evaluation report June 2019 Quality Management URSUS Consulting Ltd has quality systems which have been assessed and approved to BS EN IS9001:2008 (certificate number GB2002687). Creation / Revision History Issue / revision: 3 Date: 19/6/2019 Prepared by: Anna MacGillivray Authorised by: Anna MacGillivray Project number: U.158 File reference: Genomics England/genomic medicine draft evaluation report 19.6.2019 URSUS CONSULTING LTD 57 Balfour Road London N5 2HD Tel. 07989 554 504 www.ursusconsulting.co.uk _________________________________________________________________________________________ URSUS CONSULTING GENOMICS ENGLAND AND SCIENCEWISE 2 Glossary of Acronyms ABI Association of British Insurers AI Artificial Intelligence APBI Association of British Pharmaceutical Industry BEIS (Department of) Business, Energy and Industrial Strategy BME Black and Minority Ethnic CMO Chief Medical Officer CSO (NHS) Chief Scientific Officer DA Devolved Administration DHSC Department of Health and Social Care FTE Full Time Equivalent GDPR General Data Protection Regulation GE Genomics England GG Generation Genome report GMS Genomic medicine service GMC General Medical Council NHS National Health Service OG Oversight Group REA Rapid Evidence Assessment SEG Socio economic group SGP Scottish Genomes Partnership SoS Secretary of State SSAC Scottish Science Advisory Committee SLT Senior Leadership Team UKRI UK Research and Innovation WGS Whole Genome Sequencing _________________________________________________________________________________________ URSUS CONSULTING GENOMICS ENGLAND AND SCIENCEWISE 3 EXECUTIVE SUMMARY Introduction This report of the independent evaluation of a public dialogue on Genomic Medicine: Time for a new social contract? has been prepared by URSUS Consulting Ltd on behalf of Genomics England (GE) and Sciencewise1.
    [Show full text]
  • Dr Sophia Skyers Director, CIBS IQ Research
    CIBS IQ Research Inclusion by Dialogue and Design 100,000 Genomes Project Black African and Black Caribbean Communities A Qualitative Exploration of Views on Participation Report Author: Dr Sophia Skyers Director, CIBS IQ Research June 2018 Acknowledgements Dr Sophia Skyers, the author, would like to thank all of the focus group participants, event attendees and radio panel members for the invaluable contribution that they have made to informing this report and to shaping its recommendations. The participation of the community and the critical exchange of views is vitally important, and projects such as these cannot be undertaken without that active engagement. The author would also like to thank Can-Survive UK, BME Cancer Communities, Genomics England, and all of the healthcare professionals, geneticists, genetics researchers, and stakeholders from a range of organisations for sharing their knowledge, experience and insights so openly, and to Dr Rohan Morris for sharing his experience on ethnicity and access in relation to clinical research. 2 Table of Contents Executive Summary 4 100,000 Genomes Project 4 1. Introduction and background 9 2. About the 100,000 Genomes Project 9 3. Purpose and approach to conducting the study 13 4. Discussion oF Findings 15 a) Interviews with stakeholders 15 b) Focus groups, awareness-raising events and media campaigns 24 5. Conclusion, synthesis and recommendations 38 Appendix A – Focus Groups 41 Appendix B – Awareness Raising Events and Radio Campaigns 42 Appendix B – Stakeholder Interviews 43 Appendix B – ReFerences 44 3 Executive Summary 100,000 Genomes Project The 100,000 Genomes Project is aiming to sequence 100,000 whole genomes from approximately 70,000 consented NHS patients in the UK with all types of cancer, and rare diseases, as well as patients’ family members, as these diseases are strongly linked to changes in the genome.
    [Show full text]
  • Sarcoma Detailed Research Plan
    GeCIP Detailed Research Plan Form Background The Genomics England Clinical Interpretation Partnership (GeCIP) brings together researchers, clinicians and trainees from both academia and the NHS to analyse, refine and make new discoveries from the data from the 100,000 Genomes Project. The aims of the partnerships are: 1. To optimise: • clinical data and sample collection • clinical reporting • data validation and interpretation. 2. To improve understanding of the implications of genomic findings and improve the accuracy and reliability of information fed back to patients. To add to knowledge of the genetic basis of disease. 3. To provide a sustainable thriving training environment. The initial wave of GeCIP domains was announced in June 2015 following a first round of applications with expressions of interest in January 2015. These will be used to ensure that the plans are complimentary and add real value across the GeCIP portfolio and address the aims and objectives of the 100,000 Genomes Project. They will be shared with the MRC, Wellcome Trust, NIHR and Cancer Research UK as existing members of the GeCIP Board to give advance warning and manage funding requests to maximise the funds available to each domain. However, formal applications will then be required to be submitted to individual funders. They will allow Genomics England to plan shared core analyses and the required research and computing infrastructure to support the proposed research. They will also form the basis of assessment by the Project’s Access Review Committee, to permit access to data. Domain leads are asked to complete all relevant sections of the GeCIP Detailed Research Plan Form, ensuring that you provide names of domain members involved in each aspect so we or funders can see who to approach if there are specific questions or feedback and that you provide details if your plan relies on a third party or commercial entity.
    [Show full text]
  • BMJ.2016.036140 Entitled "The Genomics England 100,000 Genomes Project" Response to Editor and Reviewer Comments
    BMJ.2016.036140 entitled "The Genomics England 100,000 Genomes Project" Response to Editor and Reviewer Comments Editors' comments 1) While editors felt that your paper covered an interesting and relevant topic, we did not feel it was a good fit for the Analysis section of the journal in its current form. Typically Analysis articles are 1800-2000 word scholarly debate articles that present a clear argument. The paper as it currently stands is too detailed and too descriptive compared with the papers that we typically publish as Analysis, with no argument being put forward. -Thank you. We have shortened the manuscript from almost 4000 words to 2471. Furthermore, as also suggested by Reviewer 1, we have removed a lot of the descriptive/background material and added more data and emphasis relating to current challenges in NHS genomics and how the 100,000 Genomes Project is addressing these. 2) Editors also found the paper unclear as to when one of the key objectives of the 100,000 Genomes Project -- "to bring benefit to NHS patients" -- is supposed to be met and whether any of this goal has been met thus far. We would usually expect Analysis articles that cover specific projects and initiatives to include some information about outcomes, barriers, challenges etc. -Thank you. We have added examples of how a result can change management of a family and additional metrics around reports returned and diagnostic rate. We have also added a full section to the end entitled “Challenges, hurdles and future directions” as well as box e “100,000 Genomes Project: examples of early steps in catalysing complex change”, in which additional complex hurdles are addressed.
    [Show full text]
  • Genomics England Is a Department of Health Company • Seconded to Genomics England from Queen Mary/Barts Who Pay My Salary • Multiple Industry Partnerships E.G
    The 100,000 Genomes Project Transforming Healthcare Berlin Institute of Health Prof Sir Mark Caulfield FMedSci Chief Scientist William Harvey Research Institute Queen Mary University of London Disclosures • Genomics England is a Department of Health Company • Seconded to Genomics England from Queen Mary/Barts who pay my salary • Multiple industry partnerships e.g. Illumina, iQVIA • No shares in anything except failed banks in 2008 29 January 2021 2 The 100,000 Genomes Project Milestones Announced by David Cameron, former Prime Minister in December 2012 –An Olympic Legacy Genomics England launched by then Secretary of State for Health in speech during NHS 65th Anniversary Celebrations, July 2013 Opening of new Sequencing Centre by Theresa May in 2016 CMO’s Generation Genome and the Life Sciences report in 2017 Commissioning of new NHS Genomic Medicine Service October 2018 Reached goal of sequencing 100,000 genomes in December 2018 “aspiration to undertake 5 million genome analyses over the next 5 years” The 100,000 Genomes Project in numbers 29 January 2021 How did the 100,000 Genomes Project work • 13 NHS Genomic Medicine Centres covering England, over 98 hospitals • Responsible for identifying and recruiting participants and for clinical care following results • Northern Ireland, Scotland and Wales joined Discovery Forum Industry Users 29 January 2021 5 Scalable disease diagnostics Sequence depth germline 36x to 40x Somatic 82x to 100x Patient/ family Validation Outcomes Phenotypes Clinical DNA GeCIP(s) & Pedigree assessment Gene Report
    [Show full text]
  • Endocrine and Metabolism Detailed Research Plan
    Genomics England Clinical Interpretation Partnership (GeCIP) Detailed Research Plan Form Application Summary GeCIP domain name Metabolic and Endocrine Disease Project title Whole genome sequencing to improve diagnosis and management of (max 150 characters) inherited metabolic and endocrine disorders Objectives. Set out the key objectives of your research. (max 200 words) Our major objectives are to use data from high-throughput whole genome sequencing to advance the understanding of the aetiology and heterogeneity of a range of important inherited metabolic and endocrine syndromes where full understanding is currently lacking. We will gain insights into disease mechanism and to novel therapeutic opportunities. Specific aims: 1. We will develop and implement bioinformatics algorithms and pipelines to categorise rare, severe inherited metabolic and endocrine disorders into homogeneous phenotypic groups. This will improve gene identification, assist genotype-phenotype correlations and future stratification prior to intervention studies. 2. We will identify novel causative genes and establish clinically useful risk scores to facilitate identification of novel disease genes, genetic risks and modifying factors to enable NHS diagnostic testing, prediction of disease onset, penetrance and clinical severity. 3. We will use our extensive experience in phenotyping in cellular and animal model systems to study disease mechanism. 4. We will recall and invite affected individuals for further deep metabolic and endocrine phenotyping to better understand how their diseases impact on their in vivo physiology. 5. We will use our extensive nexus of collaborative relations with the biotech and pharm industry to work together to develop novel approaches to therapy of these disorders. 6. We will work together with other GeCIPs and GMCs to train the next generation of scientists, technologists and clinicians in genomic medicine.
    [Show full text]
  • Extraordinary This Gem of a Book Tells the Fascinating, Heartwarming Stories of Britain’S Healthcare Scientists
    Extraordinary This gem of a book tells the fascinating, heartwarming stories of Britain’s healthcare scientists. Extraordinary jobs. Extraordinary science. Extraordinary journeys. Working behind the scenes in your NHS, You they go the extra mile to make a difference for patients. Ingenious, world leading and often unsung, their stories will inspire and humble. © Crown copyright 2010 301274 2p 500 April 10 (MP) Printed by COI for the Department of Health Healthcare Science ExtraordinaryYou The 55,000 strong healthcare science workforce of the NHS and its related bodies, the Health Protection Agency and NHS Blood and Transplant, represent the largest group of scientists in a single employment sector in the UK. Their vast scientific knowledge and skill base stretches across some 45 scientific specialisms encompassing biology, genetics, physiology, physics and bioengineering. This knowledge lies at the foundation of the profession’s crucial and often unique role in: – providing complex and specialist diagnostic services, analysis and clinical interpretation – offering direct therapeutic service provision and support – introducing technological and scientific advances into healthcare, and undertaking research, development and innovation – providing performance and quality assurance, risk management and clinical safety design and management – teaching, training and providing a specialist consultancy and clinical advice service to other clinicians with respect to all of the key functions above. The healthcare science workforce plays a critical part in delivering healthcare. More than 80% of all diagnoses are reached with a contribution from healthcare scientists. 1 ExtraordinaryYou Extraordinary careers. Professor Sue Hill OBE Extraordinary science. Chief Scientific Officer, Department of Health Extraordinary patient journeys. The pages of this book will be a revelation to many people.
    [Show full text]