1. Genomics and Population Health Challenges for the Public Health Community Dr Ron Zimmern MA, FRCP, FFPHM Director, Public Health Genetics Unit, Cambridge Royal College of Physicians, London 26 January 2006

2. Contents of Talk 1.Intellectual challenges of public health genetics 2.Practical challenges and public health action 3.Bellagio and the international dimension

3. Intellectual Challenges of Public Health Genetics

4. The Basic Thesis Public health practice in the twenty first century can no longer ignore the knowledge derived from genetic and molecular science. An understanding of the cellular mechanisms of disease will be as important to the public health community as an understanding of the social determinants of health.

5. Intellectual Challenges 1.Understanding basic genetics, cell and molecular biology and their complexity 2.Understanding that genetic factors are important health determinants and the implications of gene-gene and gene-environment interaction 3.Understanding that genetic influences do not entail determinism 4.Understanding the basic principles of genetic epidemiology and their implications for population health 5.Understanding the complementary nature of high risk and population approaches to disease prevention 6.Understanding the ethical, legal, social and policy implications of genetics and molecular science

6. Genetic BiologicalPhysical Political Social Behavioural Genetic Endowment Natural Environment Structural Environment Individual Behaviour INDIVIDUALS POPULATIONS Determinants of Health

7. Gene-environment Interaction ‘Totally’ Genetic ‘Totally’ Environmental Struck by lightning Motor vehicle accident Duchenne muscular dystrophy Cystic fibrosis Heart disease Cancer Schizophrenia Diabetes Obesity Asthma Rheumatoid arthritis PKU Alzheimers Fragile X Autism TB Meningococcus Multiple sclerosis

8. Complexity in Genetic Science 1.Gene-gene interaction 2.Control of transcription 3.Alternative splicing 4.Post translational modification 5.Temporal effects

9. Practical Challenges and Public Health Action

10. Practical Challenges 1.Leadership in public health genetics 2.Knowledge integration and evidence synthesis 3.Service development and evaluation 4.Education and training 5.Informing public policy 6.Genomics and global health

11. Leadership in Public Health Genetics 1.Developing awareness genetic literacy 2.Building capacity specialist public health geneticists 10 to 12 in UK with detailed understanding of issues informing intelligent commissioning 3.Establishing networks national and international SOGPAPH and GRAPHInt

12. Knowledge Base Genetics and Molecular Science Public Health Sciences Humanities and Social Sciences Technical Skills Health Needs Assessment Programme Planning Data Analysis Review and Evaluation Management Financial Planning Political Sensitivity Ethnicity Cultural differences Interpersonal Skills Personal Development THE SCIENCE THE ART Professional Competence PROFESSIONAL COMPETENCE IN PUBLIC HEALTH GENETICS

13. Genetic and Population Sciences and the Humanities GENETIC SCIENCE Basic concepts of mendelian genetics Family histories and pedigrees Risk assessment and communication Principles of genetic epidemiology Principles of molecular genetics Genetic testing and screening Genetics of common disorders Gene-environment interaction HUMANITIES Sociology Anthropology Law Economics Ethics Metaphysics and epistemology Theology Political philosophy POPULATION SCIENCES Epidemiology Biostatistics Environmental health sciences Infectious diseases Social and behavioural sciences Health economics Health services research Management science Information science

14. Service Development and Evaluation 1.Evaluation and regulation of genetic tests and biomarkers 2.Integration of genetic science into mainstream clinical specialties 3.Organisational issues for laboratory genetics in the context of pathology modernisation 4.Ensuring intelligent commissioning of genetic services 5.Genetics in primary care 6.Genetic screening programmes 7.Genetic services and the commercial sector

15. National Strategy for Genetics Education Strategy for increasing the knowledge and understanding of genetics across the health care professions – genetic literacy Commitment of Wellcome Trust to background report Strategy commissioned jointly by Wellcome Trust and DH Establishment of the National Genetics Education and Development Centre

16. Six Policy Issues 1.The regulatory framework Ensuring a balanced approach 2.Educational strategies Health professionals, general public 3.The science base Science infrastructure 4.Commercial considerations Entrepreneurship, IPR and public private partnerships 5.Information and confidentiality Personal data, human tissue, stem cells,gene therapy 6.Financial framework for health Cost pressures, impact on NHS, health economics

17. UK Policy Context 1.Our Inheritance, Our Future – Realising the potential of genetics in the NHS (Jun 03) 2.Strengthening Clinical Research (Oct 03) 3.Lambert Review of Business University Collaborations (Dec 03) 4.Bioscience 2015: Improving National Wealth, Improving National Health (Nov 03) 5.Securing Good Health for the Whole Population: Wanless Report (Feb 04) 6.Science and Innovation: A Ten Year Investment Framework (Mar 04) 7.Research for Patient Benefit Working Party (Mar 04) 8.Public Health Sciences: Challenges and Opportunities (Mar 04) 9.Choosing Health: Making Healthier Choices Easier (Nov 04) 10.NHS Improvement Plan: Putting People at the Heart of Public Services (Nov 04) 11.Better Health Through Partnership. HITF (Nov 04) 12.Creating a Patient Led NHS (Mar 05) 13.Best Research for Best Health: A New NHS Research Strategy (Jul 05) 14.Modernising Pathology: Building a Service Responsive to Patients (Sep 05)

18. Impact of UK Policy Context 1.Importance of genetics and molecular science research 2.Need for a vibrant research base and research capacity 3.Imperative of strong and well developed links between academia, the NHS and the commercial sector 4.Importance of the NHS as a unique resource for clinical trials and all forms of clinical research including epidemiological studies and health services research 5.Growing importance of public health and preventive medicine 6.Need for appropriate and balanced regulatory regimes

19. Bellagio and the International Dimension

20. The Bellagio Initiative 18 experts from UK, France, Germany, USA and Canada Funded by Rockefeller Foundation Aims To explore the possibility of establishing an international network to promote the goals of public health genetics/genomics To share knowledge and resources To ensure equitable access to the benefits of genome-based knowledge by all, including those in developing countries

21. Questions and Issues 1.What are the fundamental concepts of public health genetics/genomics? 2.Can ‘personalised medicine’ be reconciled with the population- level goals of public health? 3.What are the key ethical, legal and social issues and how can they be addressed? 4.How can different disciplines work together to achieve shared goals? 5.What genetics competencies do health professionals need?

22. The Bellagio Statement The responsible and effective translation of genome-based knowledge and technologies for the benefit of population health

23. The Enterprise

24. GRAPH Int GRAPH Int is an international collaboration that facilitates the responsible and effective translation of genome-based knowledge and technologies into public policies, programmes and services for the benefit of population health Aims To provide an international forum for dialogue and collaboration To promote relevant research To support the development of an integrated knowledge base To promote education and training To encourage communication an engagement with the public and other stakeholders To inform public policy Official Launch Genomics and Public Health Montreal, Canada 4-7 June 2006 www.humgen.umontreal.ca/events/dnasampling/