Download The Future Is Being Built Today EDMA Brussels 29.06.2010 A. Brand

Public
Health
Public
Health
Public Health
Genomics –and
The future
is being built
today!
Genomics
Prof. dr. Angela Brand MD PhD MPH
Angela Brand
EUPHA 2008
Director of the European Centre for Public Health Genomics (ECPHG) @ UM
EDMA 29.06.2010
1. The European Centre for Public Health Genomics (ECPHG)
@ Maastricht University
Public Health Genomics – The future is being built today! – EDMA 28.06.2010 – A. Brand
Public Health Genomics (PHG) - a journey of 18 years …
1992
Johns Hopkins School of Public Health (USA)
– Public Health & Genetics
2010
ECPHG @ Maastricht University (NL)
- Centre of Excellence for PHG in Europe
Public Health Genomics – The future is being built today! – EDMA 28.06.2010 – A. Brand
Public Health Genomics (PHG) - a journey of 18 years …
1997
worldwide four pioneers of PHG:
Muin Khoury (USA)
Wylie Burke (USA)
Ron Zimmern (UK)
Angela Brand (Germany)
2010
ECPHG coordination:
European Network (PHGEN)
International Network (GRaPHint)
Public Health Genomics – The future is being built today! – EDMA 28.06.2010 – A. Brand
2. Public Health Genomics
Public Health Genomics – The future is being built today! – EDMA 28.06.2010 – A. Brand
Public Health
versus
Population Health
Public Health Genomics – The future is being built today! – EDMA 28.06.2010 – A. Brand
What is Public Health?
Public Health Genomics – The future is being built today! – EDMA 28.06.2010 – A. Brand
Public Health Trias
[IOM, 1988]
Public Health Genomics – The future is being built today! – EDMA 28.06.2010 – A. Brand
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)
Public Health Genomics – The future is being built today! – EDMA 28.06.2010 – A. Brand
Obesity ...
Public Health Genomics – The future is being built today! – EDMA 28.06.2010 – A. Brand
… the obesity story
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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
nutrigenomics?
self-responsibility? empowerment? health literacy?
discrimination?
obesity versus overweight …
obesity in relation to extreme underweight ?
???
Public Health Genomics – The future is being built today! – EDMA 28.06.2010 – A. Brand
Public Health - The main determinants of health ..
Public Health Genomics – The future is being built today! – EDMA 28.06.2010 – A. Brand
THE EARLY HEALTH ‘DIAMOND’ USES 10 AVAILABLE
METRICS TO GIVE A COMPREHENSIVE PICTURE
OF EARLY HEALTH
Infrastructure
Interventions
Risk factors
Outcomes
2007
Public Health Genomics – The future is being built today! – EDMA 28.06.2010 – A. Brand
•
Large Affluent Asian countries
Risk factors
Infrastructure
5
4
3
2
1
0
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Interventions
Large Affluent Western countries
Risk factors
Outcomes
•
Risk factors
Outcomes
Interventions
Outcomes
Small Emerging Latin American countries
Infrastructure
5
4
3
2
1
0
Infrastructure
5
4
3
2
1
0
Interventions
•
Emerging Southeast Asian countries
Risk factors
Infrastructure
5
4
3
2
1
0
Interventions
Outcomes
Public Health Genomics – The future is being built today! – EDMA 28.06.2010 – A. Brand
2007
Prevention targets ...
Public Health Genomics – The future is being built today! – EDMA 28.06.2010 – A. Brand
… tackling health determinants
and
understanding genome-environmental interactions …
Public Health Genomics – The future is being built today! – EDMA 28.06.2010 – A. Brand
2010 - Paradigm shift in Public Health due to genomics
Public Health Genomics – The future is being built today! – EDMA 28.06.2010 – A. Brand
… genomics is a „moving target“ …
Public Health Genomics – The future is being built today! – EDMA 28.06.2010 – A. Brand
Continuum of Genome-based Knowledge
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Genetic diseases
Inherited genetic variation
– (polymorphisms)
Somatic genetic information
Pathogen/vector genome information
– Genome vs. Genome
Biological markers of all types
Modern biology
Epigenomics
Systems Biology
“diseasomes”
Personal Genome
“Integrative Genomes”
Narrow focus
Broad focus
Biotechnology and Bioinformatics driven!
Public Health Genomics – The future is being built today! – EDMA 28.06.2010 – A. Brand
… need for translating biological complexity
(1) into genome-based research
(2) into health policies
(3) into evidence-based health practice
Public Health Genomics – The future is being built today! – EDMA 28.06.2010 – A. Brand
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, ECPHG]
Public Health Genomics – The future is being built today! – EDMA 28.06.2010 – A. Brand
Society
Knowledge
Generation
Communication and Stakeholder Engagement
Population
Sciences
Genomebased
Science and
Technology
Humanities
and Social
Sciences
Informing Public Policy
Knowledge
Integration
Policy Develpment
Improvement
in
Within
And
Across
Disciplines
Assessment
Assurance
Population
Health
Developing and Evaluating
Health Services
Education and Training
Translational Research
Public Health Genomics – The future is being built today! – EDMA 28.06.2010 – A. Brand
Public Health Genomics
(“from cell to society and from society to cell”)
Society
Knowledge
Generation
Population
Sciences
Genomebased
Science and
Technology
Humanities
and Social
Sciences
Communication and Stakeholder Engagement
Informing Public Policy
The Enterprise
Knowledge
Integration
Policy Development
“… to rethink
and
systematically
evaluate
Within
Assessment
Assurance
Andpublic health task and
every
Across
intervention…”
Developing and Evaluating
Disciplines
Improvement
in
Population
Health
Health Services
Brand A. EJPH 2005. 15(2):113-116
Education and Training
Translational Research
Public Health Genomics – The future is being built today! – EDMA 28.06.2010 – A. Brand
NIH Vision (1)
Public Health Genomics – The future is being built today! – EDMA 28.06.2010 – A. Brand
NIH Vision (2)
Public Health Genomics – The future is being built today! – EDMA 28.06.2010 – A. Brand
NIH Vision (3)
Public Health Genomics – The future is being built today! – EDMA 28.06.2010 – A. Brand
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”
Public Health Genomics – The future is being built today! – EDMA 28.06.2010 – A. Brand
Genome-Environment-Interactions
[PHGF, UK, 2005]
Heart
disease
PKU
Schizophrenia
Cancer
Cystic
fibrosis
Duchenne
muscular
dystrophy
Totally
Genetic
Fragile X
Multiple
Diabetes sclerosis
Asthma
Motor
vehicle
accident
Alzheimer’s
TB
Struck
by
Meningococcus
lightning
Autism
Obesity
Rheumatoid
arthritis
Totally
Environmental
Public Health Genomics – The future is being built today! – EDMA 28.06.2010 – A. Brand
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”?
Public Health Genomics – The future is being built today! – EDMA 28.06.2010 – A. Brand
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”
Public Health Genomics – The future is being built today! – EDMA 28.06.2010 – A. Brand
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?
Public Health Genomics – The future is being built today! – EDMA 28.06.2010 – A. Brand
Diseasomes
[PNAS 104:8677-8678, 2007]
Public Health Genomics – The future is being built today! – EDMA 28.06.2010 – A. Brand
PNAS 2007;104:8677-8678
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”
Public Health Genomics – The future is being built today! – EDMA 28.06.2010 – A. Brand
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?
Public Health Genomics – The future is being built today! – EDMA 28.06.2010 – A. Brand
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”
Public Health Genomics – The future is being built today! – EDMA 28.06.2010 – A. Brand
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?
Public Health Genomics – The future is being built today! – EDMA 28.06.2010 – A. Brand
… paradigm shift in Public Health
health promotion and prevention in public health
risk groups
or
communities
settings
“one size fits all”
prevention in public health genomics
individuals
family history
lifestyle
risks for
“diseasomes”
risk groups
with similar risk
patterns
genomic profiling
Public Health Genomics – The future is being built today! – EDMA 28.06.2010 – A. Brand
Epigenomics: The blueprint for Public Health Genomics? (1)
>> ability of all environmental factors
to gene expression and phenotype change
>> ability to understand
genome-environment interactions
>> ability to measure
genome-environment interactions
>> ability of early diagnosis of individuals
for adult-onset disease
>> ability of novel preventive and therapeutic approaches
in an asymptomatic health status
Public Health Genomics – The future is being built today! – EDMA 28.06.2010 – A. Brand
Epigenomics: The blueprint for Public Health Genomics? (2)
>> How to integrate epigenomics
into Systems Biology and the Personal Genome?
>> May genetic susceptibilities be due to epigenomic effects?
>> What epigenomic information is relevant
for which person at what time during the lifespan?
>> Can we make prevention measurable?
Will it be “theranostics” on the individual level?
>> How to deal with unstable health information
(changing over time and space)?
>> What is the role of health indicators in the context
of health reporting in the future?
Public Health Genomics – The future is being built today! – EDMA 28.06.2010 – A. Brand
Epigenomics: The blueprint for Public Health Genomics? (3)
>> need for a comprehensive health information model
>> need for the implementation
of intraindividual surveillance systems
(individual health management)
>> 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!
Public Health Genomics – The future is being built today! – EDMA 28.06.2010 – A. Brand
… with genomics we face a time when the taxonomy of human
disease is being redefined as it happened before with the
discoveries of anatomy and microscopy …
Let’s get prepared in time – the future is built today!
Public Health Genomics – The future is being built today! – EDMA 28.06.2010 – A. Brand
3. Selected projects of the ECPHG
Public
Health
Genomics
– The
future –
isDepartment
being built today!
– EDMA
28.06.2010
– A. Brand
Institute
for Public
Health
Genomics
of Genetics
& Cell
Biology (16.06.2010)
Projects
PHGEN II: Will produce the first edition of "European Best Practice Guidelines for Quality
Assurance, Provision and Use of Genome-based Information and Technologies".
MUTANOM aims to characterize the functional consequences of somatic mutations and to develop models
that predict the outcome of such genetic alterations on a molecular pathway level, cellular and organism level.
BBMRI creates a pan-European Biobanking and Biomolecular Resources Research Infrastructure for
biomedical and biological research in Europe and worldwide.
DATAproBIO project is on data protection in biobanking and public health, and is focusing on implications for the
governance of emerging genome-based knowledge in Europe (joint project with the JRC-IPTS in Sevilla).
EUGiM project will generate a flexible educational module "Gender Medicine (GM)" that teaches gender differences in widespread diseases, therapy and research methods at a European level. The project aims to generate internationally
recognized experts for a gender-sensitive medicine and develop an expandable European network.
PGP project will encourage the development of personal genomics technology and practices that: are
effective, informative, and responsible, yield identifiable and improvable benefits at manageable levels
of risk; and are broadly available for the good of the general public.
PIE at the NIH Parmacogenetics Research Network is a nationwide collaboration of scientists studying
the effect of genes on people's responses to a wide variety of medicines.
Public
Health
Genomics
– The
future –
isDepartment
being built today!
– EDMA
28.06.2010
– A. Brand
Institute
for Public
Health
Genomics
of Genetics
& Cell
Biology (16.06.2010)
PHGEN II (EU - DG SANCO)
„European Best Practice Guidelines for Quality Assurance, Provision
and Use of Genome-based Information and Technologies“
http://www.phgen.eu
Public Health Genomics – The future is being built today! – EDMA 28.06.2010 – A. Brand
4. Societal Impact & policy advice of the ECPHG
Public
Health
Genomics
– The
future –
isDepartment
being built today!
– EDMA
28.06.2010
– A. Brand
Institute
for Public
Health
Genomics
of Genetics
& Cell
Biology (16.06.2010)
Societal Impact & Policy Advice
GRaPH-Int
Public
Population
Project in
Genomics
JRC-IPTS
OECD
PHG journal
European Health
Forum Gastein
ECDC
European Observatory on
Health Systems and Policies
EC Research &
DG SANCO
EUPHA
European Science
Foundation
Public
Health
Genomics
– The
future –
isDepartment
being built today!
– EDMA
28.06.2010
– A. Brand
Institute
for Public
Health
Genomics
of Genetics
& Cell
Biology (16.06.2010)
... but also public relations
Public Health Genomics – The future is being built today! – EDMA 28.06.2010 – A. Brand
Thanks for your attention !
Public Health Genomics – The future is being built today! – EDMA 28.06.2010 – A. Brand