Genomic Medicine

HOUSE OF LORDS Science and Technology Committee 2nd Report of Session 2008–09 Genomic Medicine Volume I: Report Ordered to be printed 2 June 2009 and published 7 July 2009 Published by the Authority of the House of Lords London : The Stationery Office Limited £15.50 HL Paper 107–I Science and Technology Committee The Science and Technology Committee is appointed by the House of Lords in each session “to consider science and technology”. Current Membership The Members of the Science and Technology Committee are: Lord Broers Lord Methuen Lord Colwyn Baroness Neuberger Lord Crickhowell Earl of Northesk Lord Cunningham of Felling Lord O’Neill of Clackmannan Lord Haskel Earl of Selborne Lord Krebs Lord Sutherland of Houndwood (Chairman) Lord May of Oxford Lord Warner The Members of the Sub-Committee which carried out the inquiry (Science and Technology, Sub- Committee II) are: Lord Broers Lord Patel (Chairman) Lord Colwyn Baroness Perry of Southwark Baroness Finlay of Llandaff Lord Sutherland of Houndwood Lord Krebs Lord Taverne Earl of Northesk Lord Warner Baroness O’Neill of Bengarve Lord Winston Information about the Committee and Publications Information about the Science and Technology Committee, including details of current inquiries, can be found on the internet at http://www.parliament.uk/hlscience/. Committee publications, including reports, press notices, transcripts of evidence and government responses to reports, can be found at the same address. Committee reports are published by The Stationery Office by Order of the House. General Information General information about the House of Lords and its Committees, including guidance to witnesses, details of current inquiries and forthcoming meetings is on the internet at: http://www.parliament.uk/about_lords/about_lords.cfm. Contacts for the Science and Technology Committee All correspondence should be addressed to: The Clerk of the Science and Technology Committee Committee Office House of Lords London SW1A 0PW The telephone number for general enquiries is 020 7219 6075. The Committee’s email address is [email protected]. CONTENTS Paragraph Page Summary 5 Chapter 1: Introduction 7 Background 1.1 7 The inquiry 1.5 7 Structure of the Report 1.6 8 Acknowledgements 1.9 8 Chapter 2: Genomic Science and Genomic Medicine 9 Introduction 2.1 9 Advances in genome technologies 2.3 11 Genetics of rare and common diseases 2.6 12 Identification of susceptibility genes for common diseases 2.10 15 Medical applications of genomic science 2.12 16 Bioinformatics and genomic medicine 2.32 20 The role of epigenetics in disease 2.37 21 The importance of biobanks and population cohorts for advancing genomic science 2.40 21 Conclusion 2.44 22 Chapter 3: Translating Human Genomic Research into Clinical Practice 23 The framework for translational research in the UK 3.1 23 Funding and translational research in genomic medicine 3.7 24 Strategies to facilitate translational research in the NHS 3.13 26 Assessment, evaluation and regulation of diagnostic tests 3.27 29 The development of stratified or personalised uses of medicines 3.42 32 Encouraging innovation in the biotechnology and healthcare sectors 3.58 36 Chapter 4: Implementation and Service Delivery through the NHS 37 Introduction 4.1 37 Integration of genetics into mainstream practice 4.10 39 Infrastructure investment 4.13 40 Provision of genetic services in the NHS 4.15 40 Commissioning of genetic services 4.20 42 Commissioning across the NHS 4.24 42 Uptake of pharmacogenetic tests in the NHS 4.29 43 Provision of laboratory services 4.35 45 Chapter 5: Computational use of Medical and Genomic Data: Medical Informatics and Bioinformatics 49 Introduction 5.1 49 The emergence and growth of bioinformatics 5.4 49 Linking informatics with electronic medical records 5.10 50 Developing expertise in bioinformatics 5.22 53 Immediate informatics needs of NHS Regional Genetics Centres and laboratories 5.26 53 Chapter 6: Public engagement and ethical, social and legal issues 55 Introduction 6.1 55 Public engagement 6.3 55 Ethical aspects particular to genomic research and medicine 6.9 56 Use of genetic information for insurance and employment purposes—genetic discrimination 6.31 61 Direct to Consumer Tests 6.51 64 Chapter 7: Training, education and workforce planning 70 Introduction 7.1 70 Genetic testing in common diseases—educational and training needs across the NHS 7.3 70 Medical students 7.7 71 Doctors in primary and secondary care 7.9 71 Genetics education for nurses 7.23 74 Provision of genetic counsellors 7.25 75 The role of the National Genetic Education and Development Centre 7.34 76 Laboratory scientists, modernising scientific careers, workforce planning and re-training 7.38 77 Workforce planning and delivery 7.44 78 Chapter 8: List of recommendations and conclusions 80 Appendix 1: Members and Declarations of Interest 89 Appendix 2: Witnesses 91 Appendix 3: Call for Evidence 96 Appendix 4: Seminar held at the House of Lords 98 Appendix 5: Visit to Washington DC, United States 109 Appendix 6: Acronyms and Glossary 122 Appendix 7: Recent Reports 127 NOTE: The Report of the Committee is published in Volume I, HL Paper No 107–I The Evidence of the Committee is published in Volume II, HL Paper No 107–II Volumes I and II are available on the internet at www.publications.parliament.uk/pa/ld/ldsctech.htm Reference in the text of the Report as follows: (Q) refers to a question in oral evidence (p) refers to a page of written evidence (paragraph) refers to a paragraph in the report SUMMARY Modern, effective healthcare rests upon centuries of scientific advances and innovation that have been shown in clinical trials and other studies to prevent, cure or alleviate human disease. Every so often, a scientific advance offers new opportunities for making real advances in medical care. From the evidence given to this inquiry, we believe that the sequencing of the human genome, and the knowledge and technological advances that accompanied this landmark achievement, represent such an advance. The 2003 White Paper, Our inheritance our future, recognised the potential impact of genetics and the genome project on our lives and our healthcare, and the importance of preparing the National Health Service (NHS) to be able to respond to this new knowledge. The investment that resulted from the White Paper enabled development of new genetics knowledge, skills and provision of services within the NHS. It targeted the diagnosis and treatment of rare single-gene disorders under the care of clinical geneticists based in Regional Genetics Centres and significantly advanced the capabilities and knowledge for managing these disorders. But the White Paper could hardly have anticipated the remarkable advances since 2003, including the charting of the genetic causes of a wide range of common diseases such as diabetes, coronary heart disease and several cancers. These scientific advances are with us now, and the use of genomic diagnostics to provide more rational and increasingly personalised management of common diseases has already started to permeate clinical practice in mainstream specialties across the NHS. The new knowledge of these genomic studies is still very fresh. It will be several years, for example, before prediction of common diseases will lead to the realistic possibility of disease prevention. But the use of many types of genomic tests is increasing rapidly, both in the NHS and in tests sold directly to consumers, and the availability of these tests will, in time, have a dramatic impact on disease diagnosis and management. This is already placing strain on the expertise of doctors, nurses and healthcare scientists who at present are poorly equipped to use genomic tests effectively and to interpret them accurately, indicating the urgent need for much wider education of healthcare professionals and the public in “genomic medicine”. Advances in genomic science will present challenges for delivering genomic tests across the mainstream specialties, suggesting the need for greater co-ordination and consolidation in “molecular pathology”, with new models for service delivery. Genomic advances also present opportunities for industry, with commercial opportunities in biotechnology as the power of genome sequencing methods continues to increase, and challenges and opportunities to the pharmaceutical industry who are increasingly using genetic testing in the drug development pipeline to develop more effective and safer drugs for which genetic tests are part of the prescribing process. Scientific advances also present social, legal and ethical challenges, with increasing amounts of personal genetic information being generated for both research and healthcare, raising concerns about personal privacy, data security and the potential for discrimination. These challenges must be faced if an appropriate balance is to be found between legitimate use of genetic information in research and protection of individual choice and privacy. In our inquiry, we have investigated these many aspects of genomic medicine, and make recommendations to ensure that the challenges afforded by advances in genomic science are met and the opportunities exploited. If our recommendations are taken forward, we believe that the UK will benefit in terms both of wealth generation and of improved health of the population. Genomic Medicine CHAPTER 1: INTRODUCTION Background 1.1. Scientists in the UK have contributed significantly to the rich history of achievement in genetics and genomics during the last six decades: from the discovery of the structure of DNA in 1953 to the development of DNA sequencing in 1975, and as principal partners in completing the human genome sequence in 2000—hailed by President Bill Clinton and Prime Minister Tony Blair as “the most wondrous map ever produced by humankind”. 1.2. Until recently, geneticists have focused on identifying the genes that underlie “single-gene disorders”—rare diseases, caused by defects in single genes, such as Huntington’s disease, cystic fibrosis and sickle cell anaemia.

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