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Public Health versus Population Health

Public Health Genomics: the European and international context – the future of youth health care is being built today! Prof. dr. Angela Brand MD PhD MPH Director of the Institute for Public Health Genomics (IPHG) @ UM PAOG 25.01..2011. Public Health versus Population Health.

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Public Health versus Population Health

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  1. Public Health Genomics:the European and international context –the future of youth health care is being built today! Prof. dr. Angela Brand MD PhD MPH Director of the Institute for Public Health Genomics (IPHG) @ UM PAOG 25.01..2011

  2. Public Health versusPopulation Health

  3. What is Public Health?

  4. Public Health Trias [IOM, 1988]

  5. Are our current (public) health strategies evidence-based?

  6. The challenge? „Are we assuring the right health interventions (Health Needs Assessment, Health Technology Assessment) in the right way (PHELSI, Quality Management & Policy Impact Assessment) in the right order and at the right time (Priority Setting & Health Targets) in the right place?“ (Concept of Integrated Health Care & Health Management)

  7. Obesity ...

  8. … the obesity story • epidemic pattern? • infectious disease? adenovirus … • bad condition? life expectancy … • obesity – type 2 diabetes – innate immunity? • subtypes? rare and common … • genetic susceptibility regarding physical activity • genetic susceptibility regarding appetite • epigenomics • nutrigenomics • self-responsibility? empowerment? health literacy? • discrimination? • obesity versus overweight … • obesity in relation to extreme underweight ? • ???

  9. The complex interaction of the main determinants of health ..

  10. … tackling health determinants and understanding genome-environmental interactions …

  11. as early as possible ...

  12. 2011 - Paradigm shift in Public Health / Healthcare due to genomics

  13. … genomics is a „moving target“ …

  14. … from theHuman Genome Project to thePersonal Genome Project …

  15. Continuum of Genome-based Knowledge • Genetic diseases • Inherited genetic variation • (polymorphisms) • Somatic genetic information • Pathogen/vector genome information • Genome vs. Genome • Biological markers of all types • Modern biology • Epigenomics • Non-linear networks in systems biology / biomedicine • “Diseasomes” • Interactoms • Personal Genome • “Integrative Genomes” • Multiplex genome engineering & synthetic genomes Highly Biotechnology and (computational) Bioinformatics driven! Narrow focus Broad focus

  16. Product and Process Innovation!

  17. … need for translating biological complexity (1) into genome-based research (2) into health policies (3) into evidence-based health practice

  18. Public Health Genomics (PHG) “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, IPHG]

  19. Public Health Genomics (PHG) - a journey of 15 years … 1997 worldwide four centres of PHG: Muin Khoury (USA) Wylie Burke (USA) Ron Zimmern (UK) Angela Brand (Germany) 2011IPHG@UM coordination: European Network (PHGEN) International Network (GRaPHint)

  20. NIH Vision (1)

  21. NIH Vision (2)

  22. NIH Vision (3)

  23. Paradigm shift in Public Health due to genomics- beyond the 4 P’s 1. from common complex diseases to “multiple rare diseases”2. from diseases to “diseasomes”3. from risk factor to “risk pattern”4. from clinical utility to “personal utility”

  24. Genome-Environment-Interactions [PHGF, UK, 2005] Heart disease PKU Schizophrenia Cancer Motor vehicle accident Cystic fibrosis Multiple sclerosis Alzheimer’s Diabetes Fragile X TB Asthma Duchenne muscular dystrophy Struck by lightning Obesity Rheumatoid arthritis Meningococcus Autism Totally Genetic Totally Environmental

  25. phenotype (disease) = mix of totally different entities (e.g., breast cancer, obesity) Challenges Are we comparing apples with oranges? Are we overestimating the number of “common diseases” and underestimating the number of “rare diseases”? N =1 trials? Reimbursement of “rare health problems”?

  26. Paradigm shift in Public Health due to Genomics- beyond the 4 P’s 1. from common complex diseases to “multiple rare diseases”2. from diseases to “diseasomes”3. from risk factor to “risk pattern”4. from clinical utility to “personal utility”

  27. health outcome = diseasome instead of disease (pleiotropic effect: e.g. IgG depletion in rheumatoid arthritis and B-cell lymphoma) Challenges Do we have to redefine diseases and ICD 10? Are we mixing cases and controls in epidemiology? Does this explain biases in epidemiology? Does this explain multimorbidity? Does this explain the effectiveness of drugs (here: Retuximab)? What kind of medical specialists do we need? “Diseasomists”? How to structure a hospital?

  28. Diseasomes[PNAS 104:8677-8678, 2007] PNAS 2007;104:8677-8678

  29. Paradigm shift in Public Health due to Genomics- beyond the 4 P’s 1. from common complex diseases to “multiple rare diseases”2. from diseases to “diseasomes”3. from risk factor to “risk pattern”4. from clinical utility to “personal utility”

  30. genomic variant = risk factor and protective factor at the same time (e.g., ACE insertion-deletion polymorphism increases the risk of stroke and decreases the risk of Alzheimer’s disease) epigenomic effects = environmental factors can modify and trigger health outcomes by changing the genome (e.g., infectious diseases, social factors, soja milk) Challenges Are we still thinking of health determinants and risk factors in a deterministic way (genetic determinism and social determinism)? Shall we avoid to separate between infectious and non-infectious diseases? Are we for the first time in history able to understand the genome-environmental interplay and risk patterns? Are we able to “measure” the success of prevention?

  31. Paradigm shift in Public Health due to Genomics- beyond the 4 P’s 1. from common complex diseases to “multiple rare diseases”2. from diseases to “diseasomes”3. from risk factor to “risk pattern”4. from clinical utility to “personal utility”

  32. Personal genome (e.g., permanent changing of the personal epigenome/(genome?) due to the influence of environmental factors) Challenges Individual pathways in systems biology correlate with onset, severity and prolongation of diseases as well as with responses to therapies. Does this mean “myself evidence” instead of EBM and RCT? Does this mean to proof “personal utility” instead of clinical utility? Do we have to offer and reimburse the right intervention for the right person at the right time? How to interpret and manage personal data? Role of Biobanks or Surveillance?

  33. health promotion and prevention in public health risk groups communities settings or “one size fits all” risk groups with similar risk patterns risks for “diseasomes” … paradigm shift in Public Health prevention in public health genomics individuals family history lifestyle genomic profiling

  34. Pharmacogenomics (Ilhan Celik, EHFG, 2010) Stratified Medicine is about adapting the treatment (molecule, dose, schedule,…) according to the patient’s characteristics for better efficacy and less adverse events. • Personalized Medicine • - Individual patients • e.g. cancer vaccine made • from the patient’s tumor Stratified Medicine - Patient sub-populatione.g. molecular testing for tumor mutation versus

  35. Epigenomics: The missing link between Environment and Biomedicine? (1) >> ability of all environmental factorsto gene expression and phenotype change>> ability to understandgenome-environment interactions>> ability to measure genome-environment interactions>> ability of early diagnosis of individualsfor adult-onset disease>> ability of novel preventive and therapeutic approachesin an asymptomatic health status

  36. Epigenomics: The missing link between Environment and Biomedicine? (2) >> need for a comprehensive personal health information model>> need for the implementation of intraindividual monitoring & surveillance systems (individual health management) >> what (epigenomic) information is relevant for which person at what time during the lifespan for what purpose? >> need for personalized healthcare >> need to look not only “from cell to society”, but also“from society to cell” >> … need for strong public health leadership!

  37. “… we face a time when the taxonomy of human disease is being redefined given the existence of pathological and molecular disease subtypes…” [Nuria Malats, CNIO 2009] … we face a time when boundaries of disciplines are crossed and the understanding of diseases is changed as it happened before with the jump from the macroscopic view in anatomy to the microscopic view in cell structure … Let’s get prepared in time – the future is built today!

  38. Child & Youth Health? … 4 examples …

  39. Child & Youth Health - PHG 1. obesity > insights into a complex and global phenomenon

  40. Child & Youth Health - PHG 2. asthma > insights into misclassification of diseases and the consequences of misclassification

  41. Child & Youth Health - PHG 3. cancer > options for personalized healthcare

  42. Child & Youth Health - PHG 4. newbornscreening > technology driven innovations and their consequences

  43. … on the international level?

  44. … on the European level?

  45. http://www.phgen.eu

  46. … 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 and stakeholder approach … reviewing the available evidence including evidence emerging from relevant European research and health action networks. … covering all EU Member States, Applicant Countries, and EFTA-EEA Countries PHGEN II (DG SANCO)

  47. PHGEN II challenges and USPs? • We have to define today and tomorrow what kind of (policy) „guidelines“ we can and should aim for! • … taking into account e.g. • dynamics of the field: genomics is a „ moving target“ (from HG to PG) • genome-environment interactions changing permanantly over time and space (incl. epigenomics: „from cell to society to cell“) • systems network thinking of biomedicine and environment (incl. social environment): e.g. „diseasomes“ and „social networks“ • P4 medicine (predictive, preemtive, personalised, participatory): „a change of view that changes everything“

  48. Policy Advice GRaPH-Int OECD Public Population Project in Genomics PHG journal ECDC JRC-IPTS European Health Forum Gastein European Observatory on Health Systems and Policies EC Research & DG SANCO EUPHA European Science Foundation Institute for Public Health Genomics – Department of Genetics & Cell Biology (16.06.2010)

  49. … the national level?

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