Public%20Health%20Genomics:%20the%20European%20and%20international%20context%20

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Public Health Genomicsthe 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) _at_ UM
PAOG 25.01..2011
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Public Health versusPopulation Health
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What is Public Health?

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Public Health Trias
IOM, 1988
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Are our current (public) health strategies
evidence-based?

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• 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)

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Obesity ...
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• 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 ?
• ???

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The complex interaction of the main determinants
of health ..
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tackling health determinants
and understanding genome-environmental
interactions
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as early as possible ...
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2011 - Paradigm shift in Public Health /
Healthcare due to genomics
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genomics is a moving target
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from theHuman Genome Project to the
Personal Genome Project
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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
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Product and Process Innovation!
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• need for translating biological complexity
• (1) into genome-based research
• (2) into health policies
• (3) into evidence-based health practice

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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
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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)
2011
IPHG_at_UM
coordination European Network (PHGEN)

International Network (GRaPHint)
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NIH Vision (1)
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NIH Vision (2)
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NIH Vision (3)
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Paradigm shift in Public Health due to genomics-
beyond the 4 Ps 1. from common complex
diseases to multiple rare diseases2. from
diseases to diseasomes3. from risk factor to
risk pattern4. from clinical utility to
personal utility
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Genome-Environment-Interactions PHGF,
UK, 2005
Heart disease
PKU
Schizophrenia
Cancer
Motor vehicle accident
Cystic fibrosis
Multiple sclerosis
Alzheimers
Diabetes
Fragile X
Asthma
TB
Duchenne muscular dystrophy
Struck by lightning
Obesity
Rheumatoid arthritis
Meningococcus
Autism
Totally Genetic
Totally Environmental
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• 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?

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Paradigm shift in Public Health due to Genomics-
beyond the 4 Ps 1. from common complex
diseases to multiple rare diseases2. from
diseases to diseasomes3. from risk factor to
risk pattern4. from clinical utility to
personal utility
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• 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?

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Diseasomes
PNAS 1048677-8678, 2007
PNAS 20071048677-8678
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Paradigm shift in Public Health due to Genomics-
beyond the 4 Ps 1. from common complex
diseases to multiple rare diseases2. from
diseases to diseasomes3. from risk factor to
risk pattern4. from clinical utility to
personal utility
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• 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 Alzheimers
  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?

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Paradigm shift in Public Health due to Genomics-
beyond the 4 Ps 1. from common complex
diseases to multiple rare diseases2. from
diseases to diseasomes3. from risk factor to
risk pattern4. from clinical utility to
personal utility
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• 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?

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paradigm shift in Public Health
prevention in public health genomics
individuals family history lifestyle genomic
profiling
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Pharmacogenomics (Ilhan Celik, EHFG, 2010)
Stratified Medicine is about adapting the
treatment (molecule, dose, schedule,) according
to the patients characteristics for better
efficacy and less adverse events.
Personalized Medicine - Individual patients
e.g. cancer vaccine made from the patients
tumor
Stratified Medicine - Patient sub-populatione.g.
molecular testing for tumor mutation
versus
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Epigenomics The missing link between
Environment and Biomedicine? (1) gtgt ability of
all environmental factorsto gene expression and
phenotype changegtgt ability to
understandgenome-environment interactionsgtgt
ability to measure genome-environment
interactionsgtgt ability of early diagnosis of
individualsfor adult-onset disease gtgt ability
of novel preventive and therapeutic approachesin
an asymptomatic health status
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Epigenomics The missing link between
Environment and Biomedicine? (2) gtgt need for a
comprehensive personal health information
modelgtgt need for the implementation of
intraindividual monitoring surveillance
systems (individual health management) gtgt
what (epigenomic) information is relevant for
which person at what time during the lifespan for
what purpose? gtgt need for personalized
healthcare gtgt need to look not only from cell
to society, but alsofrom society to cell
gtgt need for strong public health leadership!
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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 Lets
get prepared in time the future is built today!
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Child Youth Health? 4 examples
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Child Youth Health - PHG 1. obesity gt
insights into a complex and global phenomenon
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Child Youth Health - PHG 2. asthma gt
insights into misclassification of diseases and
the consequences of misclassification
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Child Youth Health - PHG 3. cancer gt
options for personalized healthcare
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Child Youth Health - PHG 4.
newbornscreening gt technology driven
innovations and their consequences
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on the international level?
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(No Transcript)
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on the European level?
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http//www.phgen.eu
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• PHGEN II (DG SANCO)

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
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• 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

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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)
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the national level?
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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 2010 NTF Croatia in
preparation Slovenia, Iceland, Malta, Sweden,
France
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• PHG in National Instituts of Public Health
• Germany
• Belgium
• Italy
• Poland
• Finnland
• Croatia
• The Netherlands?
• platform for the development of national
  strategies
• vehicle for the promotion of sustainability

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Thanks for your attention !