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Public Health Genomics and International Activities Prof. Angela ...

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Public Health Genomics and International Activities Prof. Angela ...

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    Slide 1:Public Health Genomics, International Activities A Practice Model For Personalized Health Care Dr. Serdar Savas MD Director of GENAR Institute for Public Health and Genomics Research, Turkey Prof. Angela Brand MD PhD MPH Director of the European Centre for Public Health Genomics (ECPHG) Maastricht University, The Netherlands Dr. Tomris Cesuroglu MD R&D Coordinator of GENAR Institute for Public Health and Genomics Research, Turkey

    WFPHA, Istanbul, 01.05. 2009

    Slide 2:A. What is Public Health Genomics?

    Slide 3:Epidemiologic and Demographic Transition

    Slide 4:Epidemiologic and Demographic Transition

    Fertility Mortality First Phase

    Slide 5:Epidemiologic and Demographic Transition

    Fertility Mortality First Phase Second Phase

    Slide 6:Epidemiologic and Demographic Transition

    Fertility Mortality Third Phase First Phase Second Phase

    Fertility Mortality Fourth Phase Third Phase First Phase Second Phase

    Slide 7:Epidemiologic and Demographic Transition

    Near Future Fertility Mortality Fourth Phase Third Phase First Phase Second Phase

    Slide 8:Epidemiologic and Demographic Transition

    age (years) % with disease Figure: Prevalence of selected chronic conditions, expressed in percentages, as a function of age. Life style External factors Genetic structure _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ Genetic diseases External factors Complex diseases 1% of burden of disease 18% of burden of disease 81% of burden of disease Disease threshold

    Slide 10:The diseases of this phase are complex diseases, which stem from mainly the complex interaction of human genome with life style factors. These diseases are serious, chronic and costly. Cardiovascular and cerebrovascular diseases, cancers, diabetes and osteoporosis are among major chronic and complex diseases, which account for approximately two third of all deaths in the world. Currently, the best known prevention for chronic and complex diseases is adopting a healthy lifestyle. However, this is not achieved in many places of the world. An effective intervention model including lifestyle changes for prevention of these diseases is urgently needed. The diseases of this phase are complex diseases, which stem from mainly the complex interaction of human genome with life style factors. These diseases are serious, chronic and costly. Cardiovascular and cerebrovascular diseases, cancers, diabetes and osteoporosis are among major chronic and complex diseases, which account for approximately two third of all deaths in the world. Currently, the best known prevention for chronic and complex diseases is adopting a healthy lifestyle. However, this is not achieved in many places of the world. An effective intervention model including lifestyle changes for prevention of these diseases is urgently needed.

    Pathology Development Phase I Disease Phase III Check-Up Early Diagnosis Disease Threshold Early Symptoms Threshold Diagnosis and Treatment Genetic Predisposition Life Style and Environmental Conditions Conception Death Early Symp. Phase II Public Health Genomics !

    Slide 12:Deoxyribonucleic acid DNA Double Helix 4 different chemical units 4 bases (4 ‘letters’) A T G C Deoxyribonucleic acid DNA Double Helix 4 different chemical units 4 bases (4 ‘letters’) A T G C

    “Public Health Genomics (PHG) is the responsible and effective translation of genome-based knowledge and technologies into public policy and health services for the benefit of population health.” [Bellagio Statement 2005: GRAPHInt, PHGEN, ECPHG] Public Health Genomics (PHG)

    Slide 14:B. World Wide Activities on Public Health Genomics

    Slide 15:USA Centers for Disease Control and Prevention National Office of Public Health Genomics www.cdc.gov/genomics

    PHG Foundation, Cambridge www.phgfoundation.org

    Hacettepe University Science Park, Ankara GENAR Biotechnology and Molecular Genetics Laboratories, 2004 GENAR Center for Nutrigenetics and Life Style Researches, 2006 GENAR Center for Personalized Medicine and Pharmacogenetics, 2007 GENAR Institute for Public Health and Genomics Research, 2008

    Slide 21:

    Genome-based Research and Population Health International Network www.graphint.org

    Slide 25:Public Health Genomics: Is Public Health in Europe prepared for these genome-based innovations?

    The European Commission called for a “networking exercise … to lead to an inventory report on genetic determinants relevant to public health. This network will identify public health issues linked to current national practices in applying genetic testing and on that basis will contribute to developing best practice in applying genetic testing.”

    Slide 26: 2005 CALL FOR PRPOSALS FOR PROJECTS PROGRAMME OF COMMUNITY ACTION IN THE FIELD OF HEALTH (2003-2008)

    PHGEN I PHGEN Public Health Genomics European Network EU Project No 2005313 2006-2008 Collaborating Partners, Networks, Organizations & Experts Collaborating Partners from all EU Member States, Applicant Countries, EFTA-EEA Countries: public health, human genetics/genomics, competent authorities Representatives of EU Networks: e.g. EuroGentest, PHOEBE, EUnetHTA, Orphanet, NuGo Representatives of Organizations: e.g. WHO, WTO, OECD, UNESCO, STOA Experts on European Law Experts from outside EU: e.g. NOPHG at CDC, AETMIS, P3G, HumGen To conduct a networking exercise on PHG covering all EU Member States, Applicant Countries, and EFTA-EEA Countries To identify and list key experts and institutions relevant to PHG in these countries To provide an inventory of PHG-issues and priorities in Europe Aims of PHGEN (1) To identify legal diversities and barriers in a cross-border market To analyse the relevance of EU treaties for PHG To contribute to the co-operation and exchange of information in order to enhance coherence and disseminate best practice in Europe To promote and stimulate the countries’ efforts in this emerging field by developing PHG and by supporting effective networking in order to reach sustainability (e.g. national task forces on PHG) Aims of PHGEN (2) „In the long run PHGEN will serve the European Commission as an ‚early detection unit‘ (European observatory on PHG) for horizon scanning, fact finding, and monitoring of the integration of genome-based knowledge and technologies into public health.“ Aims of PHGEN (3) Assessment of Definitions Assessment of “Genetic Exceptionalism” Assessment of Issues & Priorities Cross Sectional Working Group on Legal Aspects 5. Cross Sectional Working Group on Ethical Benchmarks 6. Policy Development for Education and Training 7. Policy Development for Genome-Based Knowledge in Health Services 8. Policy Development for Public Health Assessment Policy Development for Public Policy and Stakeholder Involvement Assurance of PHG in the Member States, Applicant Countries and EFTA-EEA Countries PHGEN Working Groups … the national level? PHGEN National Task Forces June, 19th 2006 – NTF Turkey July, 10th 2006 – NTF Italy November, 3rd 2006 – NTF Portugal November, 24th 2006 – NTF Germany November, 29th 2006 – NTF Belgium January, 12th 2007 – NTF Spain January, 24th 2007 – NTF Netherlands September, 25th 2007 – NTF Czech Republic October, 19th 2007 – NTF Bulgaria November, 20th 2007 – NTF Norway January, 30th 2008 – NTF Poland April, 23rd 2008 – NTF Hungary August 28th 2009 – NTF Switzerland In preparation: Slovenia, Iceland, Malta, Sweden, France … … PHGEN acitivities? … collaborations EuroGentest EUnetHTA NUGO orphanet PHOEBE GRaPHint p3g etc. … publications JAMA EJHG EJPH PHGJ IJPH Nature Pathobiology etc. … statements & policy reports CoE OECD IPTS Medical Devices EU Health Strategy ECDC NCA Report on Data Protection European Observatory on Health Systems and Policies (in preparation) etc. … contribution to meetings EHFG 2007/2008/2009 ISPOR 2006 ESHG 2006/2007/2008/2009 Brocher Foundation 2007 EUPHA 2005, 2006, 2007, 2008, 2009 WFPHA 2009 CNIO 2009 etc.

    Slide 42:

    EUPHA Section „Public Health Genomics“

    Plenary III „Public Health Genomics: Is Public Health in Europe prepared for genome-based innovations?“ A. Brand (The Netherlands), S. Savas (Turkey), J.Thakuria (USA) Major issues identified by PHGEN I indication versus use of evidence-based health information genetic test versus genome-based health information 3. product innovation and process innovation 4. social driven versus technology driven 5. need to communicate the paradigm shift in public health 6. need for the timely integration of genome-based health innovations into the healthcare system To produce the first edition of "European Best Practice Guidelines for Quality Assurance, Provision and Use of Genome-based Information and Technologies" using an interdisciplinary approach by, e.g., Public Health experts, EU lawyers, Human Geneticists and patient groups reviewing the available evidence including evidence emerging from relevant European research and health action networks.

    Slide 47: PHGEN II DG SANCO 2009-2011 Main Partner: European Center for Public Health Genomics (ECPHG), Maastricht University

    Main Partner: UM University of Maastricht / Netherlands 20 Associated Partners: SDU University of Southern Denmark / Denmark INSERM Institut National de la Santé et de la Recherche Médicale / France KULEUVEN Katholieke Universiteit Leuven / Belgium IRCCS Instituto di Ricovero e Cura a Carattere Scientifico / Italy UD MHSC University of Debrecen, Medical and Health Science Centre / Hungary OSTEBA Osteba, Basque Office for HTA. Deparment of Health. Basque Country / Spain VUA Vrije Universitait Amsterdam / Netherlands UNIVIE University of Vienna / Austria MU-Varna Medical University of Varna, Faculty of Public Health / Bulgaria PHGEN II RUB Ruhr-Universität Bochum / Germany PUM Phillips-Universität Marburg / Germany BioGlobe BioGlobe GmbH Hamburg (SME) / Germany MPIMG Max Planck Institute for Molecular Genetics Berlin / Germany UCSC Universita Cattolica del Sacro Cuore / Italia NGAK Norwegian Group on Inherited Cancer / Norway NIP-NIH National Institute of Public Health- National Institute of Hygiene / Poland INSA Instituto Nacional de Saude Dr Ricardo Jorge / Portugal CNIO Fundación Centro Nacional de Investigaciones Oncológicas Carlos III / Spain GIG Genetic Interest Group / UK Associated Partners “European Best Practice Guidelines for a) Quality Assurance, b) Provision and c) Use of Genome-based Information and Technologies” PHGEN II

    Slide 51:General objective of PHGEN II

    PHGEN II aims to produce the first edition of "European Best Practice Guidelines for Quality Assurance, Provision and Use of Genome-based Information and Technologies". The guidelines assist Member States, Applicant and EFTA-EEA Countries with evidence-based guidance on timely and responsible integration of genome-based information and technologies into healthcare systems for the benefit of population health. Since genetic determinants are hardly recognized as playing a key role in understanding diseases and target-oriented prevention, ongoing exchange of knowledge and best practice in this rapid growing field is needed.

    http://www.phgen.eu

    Slide 53:B. A Practice Model for Personalized Health Care with Public Health Genomics Perspective

    An Example to a Single Nucleotide Polymorphism (SNP) Stop Codon An Example to a Single Nucleotide Polymorphism (SNP) An Example to a Single Nucleotide Polymorphism (SNP) Stop Codon Genetic Polymorphisms Dark skin Fair skin Which one is better?

    Slide 58:Gene and Environment/Life Style Interaction

    Genetic variation: Is it good or bad? Genetic variation: Is it good or bad? Genetic variation: Is it good or bad? Genetic variation: Is it good or bad? Genetic variation: Is it good or bad? Genetic variation: Is it good or bad? GSTP 1 Effective detoxification GSTP 1 (A313G Homozygous) Ineffective detoxification Transcription (mRNA production) Translation in ribosom (synthesis of amino acid chain) Protein Transcription (mRNA production) Translation in ribosom (synthesis of amino acid chain) Protein

    Slide 66:Facts and Challenges (1)

    Burden of complex diseases is increasing. Health care systems will not be able to pay the costs of complex diseases in aging societies. The risks of complex diseases vary among individuals. Most of the complex diseases can be prevented or delayed. Although there are general approaches, specific interventions to prevent complex diseases vary among individuals. General information on health issues is not effective in many cases to change the lifestyle.

    Slide 67:Facts and Challenges (2)

    The importance of personalized medicine and personalized health care interventions are recognized. Evidence for association of polymorphisms with complex diseases is not fully established yet. The current knowledge about complex genetics has already the potential to be used for the benefit of the individual and society.

    Slide 68:Gentest is an endeavor to face the mentioned challenges as an integrative preventive model which utilizes individual’s health information, lifestyle factors, biomarkers and genotype in order to prevent, early detect and treat chronic and complex diseases in a targeted way.

    Slide 69:Personal data Medical history Family history Living and working conditions Physical activity and exercise Smoking and drinking habits Supplement consumption Nutritional habits Food consumption

    20 A: Rice, 20 g 20 B: Rice, 75 g 20 C: Rice, 150 g 26 A: Pizza, 75 g 26 B: Pizza, 150 g 26 C: Pizza, 220 g 66 A: Sushi, 40 g 66 B: Sushi, 80 g 66 C: Sushi, 120 g Clinical Laboratories

    Slide 72:Genotype Assessment

    Nutritional Assessment

    Slide 80:

    Slide 81:

    Slide 87:

    Slide 88:Body Composition Assessment

    Slide 89:Assessment of Physical Activity and Exercise

    Slide 90:Assessment of Causes of Smoking

    Slide 92:

    Age Type 2 Diabetes Risk in 30 Years Age Type 2 Diabetes Risk in 30 Years With Optimum Lifestyle and Medical Follow-up Plan Age Heart Attack Risk in 30 Years Age Heart Attack Risk in 30 Years With Optimum Lifestyle and Medical Follow-up Plan Age Stroke Risk in 30 Years Age Stroke Risk in 30 Years With Optimum Lifestyle and Medical Follow-up Plan High Average Low Lung Cancer Risk Lung Cancer Risk with Optimum Lifestyle and Medical Follow-up Plan High Average Low Breast Cancer Risk Breast Cancer Risk with Optimum Lifestyle and Medical Follow-up Plan High Average Low Colon Cancer Risk Colon Cancer Risk with Optimum Lifestyle and Medical Follow-up Plan High Average Low Stomach Cancer Risk Stomach Cancer Risk with Optimum Lifestyle and Medical Follow-up Plan High Average Low Osteoporosis Risk Osteoporosis Risk with Optimum Lifestyle and Medical Follow-up Plan

    Slide 105:Medical Follow-up Plan

    Slide 106:Programme for Optimum Body Composition

    Slide 107:Menu Plan and Exchange Options

    Slide 109:

    Slide 110:Physical Activity and Exercise Recommendations

    Slide 111:

    Slide 112:

    Slide 113:Gentest Products

    According to age groups GentestKid GentestJunior GentestVital GentestMedical GentestBioaging For women GentestFutureMum GentestHRT GentestMenopause According to medical conditions GentestHealthyWeight GentestMedicalDiabetes GentestMedicalCardio GentestMedicalOnco

    Slide 114:Thank you for your attention!

    Prof. Dr. Angela Brand a.brand@socmed.unimaas.nl Dr. Serdar Savas ssavas@genar.gen.tr Dr. Tomris Cesuroglu tcesuroglu@genar.gen.tr

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