Annual Report of the Chief Medical Officer 2016, Generation Genome London: Department of Health (2017)
Total Page:16
File Type:pdf, Size:1020Kb
A T G C T G A C T C C A G T A A G A A T G C A C T C C A G T A A G G A A T G C T A C T C C A T C G A T G C T G A T C C A G T A A G A G A G G A A T G G T A A G A A T G C C C A G G T A A G A A T C G A T G C T G A C T C A G T C G A T G C T G A C C C A G T A A G A A T G G A A T G C T A C T C C A G T T G C C A G A A T G G T A A G A A AnnualT G C ReportC T G ofC theC C A G G A A T C G A T G C T ChiefG A CMedicalT C A OfficerG G A 2016A T C T C A G G A A T G G T G A T C C A G T A A A C T C C A G T A A G G A A T G C T A C T C T G C T G A T C C A G T A A G A A T G C C A A T G C T G A C T C C GenerationA G T A GenomeA G A A T G C A C T C C A G T A A G G A A T G C T A C T C C A T C G A T G C T G A T C C A G T A A G A G A G G A A T G G T A A G A A T G C C C A G G T A A G A A T C G A T G C T G A C T C A G T C G A T G C T G A C C C A G T A A G A A T C A T C G G A A T C G A T G A A T C G A T A T A A G A A T C G A T G C T G T G A C T C A A C T C C A G T G A A T C G A T C T A C T C C A T C G A T G C T G A T C C A G T A A G A G A G G A A T G G T A A G A A T G C C C A G G A A G E N E R A T I O N G T G T G A C T C A T G C C C A G T A T G G E N O M E C T C A A C T C C A G T A A G G A A T G C T A C T C C A T C G A T G C T G A T C C A G T A A G A G A G G A A T G G T A A G A A T G C C C A G G T A A G A A T C G A T G C T G A C T C A G T C G A T G C T G A C C C A G T A A G A A T A A T G G T A A G A A T G C A G A A T G C C C A G T A A G A A T G C G A A T G C T A C T Foreword I publish my annual report on health in England as part of my statutory role. In this edition of my report, I take a detailed look at genomics, exploring how we currently utilise genomics in our health and care system and how its potential may be developed. Leading figures from the field of genomics have contributed specialist chapters. I include topics such as the care and treatment of cancer, diagnosing rare diseases, the use of genomics in screening and ‘personalised’ prevention, precision medicine – the targeting of drugs to do the most good and least harm. I wanted also to consider genomics within the context of society and include a chapter considering the ethical and societal discourse around genomics. Using the evidence I make recommendations, aimed at those able to bring about change, to guide how our potential can be realised to both improve patients’ outcomes and maintain the UK’s leadership role in genomics. Genomics is not tomorrow. Its here today. I believe genomic services should be available to more patients, whilst being a cost-effective service in the NHS. This is exciting science with the potential for fantastic improvements in prevention, health protection and patient outcomes. Now we need to welcome the genomic era and deliver the genomic dream! Prof Dame Sally C Davies Annual Report of the Chief Medical Officer 2016, Genomics Foreword page 1 Annual Report of the Chief Medical Officer 2017, Genomics Foreword page 2 Editors and authors Annual Report of the Chief Medical Officer 2016, Genomics Editors and authors page 3 Editors and authors This report could not have been produced without the Chapter 3 Genomics and theraputics generous input of the following people. Chapter lead Munir Pirmohamed Editor-in-Chief Institute of Translational Medicine, University of Liverpool Claudia Langenberg MRC Epidemiology Unit, University of Cambridge Chapter 4 Developing medicines targeting severe genetic diseases Policy Adviser Chapter lead Mark Bale David Altshuler Genomics England and Department of Health Vertex Pharmaceuticals Project Manager and Editor Chapter 5 Cancer diagnosis Orla Murphy Chapter lead Ultan McDermott Department of Health Wellcome Trust Sanger Institute Chapter 6 Rare diseases Chapter Authors Chapter lead Patrick Chinnery Chapter 1 Chief Medical Officer’s summary Cambridge University Hospitals NHS Trust, University of Cambridge Chapter lead Sally C Davies Chapter authors Patrick Chinnery, Cambridge University Hospitals NHS Trust, Department of Health University of Cambridge. Alastair Kent, Genetic Alliance UK Chapter 2 100,000 Genome Project John Bradley, Cambridge University Hospitals NHS Trust, Chapter lead and author University of Cambridge Marc Caulfield 1 Chapter authors Chapter 7 Genomics and obesity Marc Caulfield1,2, Ellen Thomas1,3 Clare Turnbull1,2 Richard Chapter lead Scott1,4 Augusto Rendon1,5 Louise Jones1,2 Kay Lawson1,6 Stephen O’Rahilly1 Nirupa Murugaesu1,7 Clare Craig1 Matina Prapa1 Simon Chapter authors Thompson1,2 Katarzyna Witkowska1,2 Laura Shallcross8 Emma Sadaf Farooqi1, Vanisha Mistry1, Stephen O’ Rahilly1 Baple1,9 Caroline Wright1,10 Katherine Smith1,2 Matthew Parker1 Ellen McDonagh1,2 Eik Haroldsdottir1 Antonio Rueda1,2 1 University of Cambridge Metabolic Research Laboratories and NIHR Damian Smedley1,2 Laura Riley1,2 Suzanne Wood1,2 Tim Cambridge Biomedical Research Centre, Wellcome Trust-MRC Institute of Rogers1,2 Mark Bale1,11 Lisa Dinh1 Katrina Nevin-Ridley1 Sue Metabolic Science Hill1,12 Tom Fowler1,2 Chapter 8 Personalised Prevention 1 Genomics England,London 2 William Harvey Research Institute and the Barts Cancer Institute, Chapter lead Queen Mary University of London Ron Zimmern 3 Guy’s Hospital, London 4 Great Ormond Street Hospital, London PHG Foundation 5 University of Cambridge, Cambridge 6 University College London Hospital, London 7 St George’s Hospital, London 8 UCL Institute of Health Informatics and Genomics England 9 Southampton General Hospital, Southampton 10 Wellcome Trust Sanger Institute, Hinxton 11 Department of Health, London 12 NHS England, London Annual Report of the Chief Medical Officer 2016, Genomics Editors and authors page 4 Editors and authors Chapter 9 Pathogen genomics Chapter 13 Solving Data Challenges Chapter lead Chapter editor Sharon Peacock Claudia Langenberg1 London School of Hygiene and Tropical Medicine Chapter authors Genomic data environment; Peter Counter2 Chapter contributors Bioinformatics and statistical analyses; Jessica Vamathevan,3 Eleanor Barnes, Nuffield Department of Medicine and Ewan Birney3. the Oxford NIHR BRC, University of Oxford. Judith Breuer, Clinical interpretation of genomic data; Clare Turnbull2 University College London. Miles Carroll, Public Health Lifelong electronic health records for genomic medicine; England, Porton Down. Derrick Crook, University of Oxford, Claudia Langenberg,1 Harry Hemingway4,5,6 and Public Health England. Xavier Didelot, Imperial College London. Mark Fife, The Pirbright Institute, Surrey. Andrew 1 MRC Epidemiology Unit, University of Cambridge Fox, Public Health England. Jane Greatorex, Public Health 2 Genomics England England. Ian Goodfellow, University of Cambridge. Paul 3 European Bioinformatics Institute (EBI), Wellcome Trust Genome Campus, Cambridge Kellam, Imperial College London. Donald King, The Pirbright 4 Farr Institute of Health Informatics Research, University College London Institute, Surrey. Julian Parkhill, The Sanger Institute, 5 Inst itute of Health Informatics, University College London Wellcome Genome Campus, Cambridge. Tim Walker, 6 NIHR University College London Hospitals / UCL Biomedical Research University of Oxford Centre, London Chapter 10 Risk-stratified cancer screening Chapter 14 Economics of sequencing Chapter lead Chapter lead Douglas Easton John Chisholm Department of Public Health and Primary Care, and Department of Genomics England, Queen Mary University of London Oncology, University of Cambridge Chapter authors Chapter authors John Chisholm, Genomics England, Queen Mary University Douglas Easton, Department of Public Health and Primary of London.