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Public Health Genomics:
Public
Health
Public
the European
andand
international
contextHealth
–
the future of youth
health care is being built today!
Genomics
Prof. dr. Angela Brand MD PhD MPH
Angela
Brand
EUPHA
2008
Director of the Institute for Public Health Genomics
(IPHG) @ UM
PAOG 25.01..2011
Public Health
versus
Population Health
Public Health Genomics – PAOG 25.01.2011 – A. Brand
What is Public Health?
Public Health Genomics – PAOG 25.01.2011 – A. Brand
Public Health Trias
[IOM, 1988]
Public Health Genomics – PAOG 25.01.2011 – A. Brand
Are our current (public) health strategies
evidence-based?
Public Health Genomics – PAOG 25.01.2011 – 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 – PAOG 25.01.2011 – A. Brand
Obesity ...
Public Health Genomics – PAOG 25.01.2011 – 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
epigenomics
nutrigenomics
self-responsibility? empowerment? health literacy?
discrimination?
obesity versus overweight …
obesity in relation to extreme underweight ?
???
Public Health Genomics – PAOG 25.01.2011 – A. Brand
The complex interaction of the main determinants of health ..
Public Health Genomics – PAOG 25.01.2011 – A. Brand
… tackling health determinants
and
understanding genome-environmental interactions …
Public Health Genomics – PAOG 25.01.2011 – A. Brand
as early as possible ...
Public Health Genomics – PAOG 25.01.2011 – A. Brand
2011 - Paradigm shift in Public Health / Healthcare
due to genomics
Public Health Genomics – PAOG 25.01.2011 – A. Brand
… genomics is a „moving target“ …
Public Health Genomics – PAOG 25.01.2011 – A. Brand
… from the
Human Genome Project
to the
Personal Genome Project …
Public Health Genomics – PAOG 25.01.2011 – A. Brand
Continuum of Genome-based Knowledge
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Genetic diseases
Inherited genetic variation
– (polymorphisms)
Narrow focus
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
Broad focus
“Integrative Genomes”
Multiplex genome engineering & synthetic genomes
Highly Biotechnology and (computational) Bioinformatics driven!
Public Health Genomics – PAOG 25.01.2011 – A. Brand
Product and Process Innovation!
Public Health Genomics – PAOG 25.01.2011 – 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 – PAOG 25.01.2011 – 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, IPHG]
Public Health Genomics – PAOG 25.01.2011 – A. Brand
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@UM coordination:
European Network (PHGEN)
International Network (GRaPHint)
Public Health Genomics – PAOG 25.01.2011 – A. Brand
NIH Vision (1)
Public Health Genomics – PAOG 25.01.2011 – A. Brand
NIH Vision (2)
Public Health Genomics – PAOG 25.01.2011 – A. Brand
NIH Vision (3)
Public Health Genomics – PAOG 25.01.2011 – 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 – PAOG 25.01.2011 – 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 – PAOG 25.01.2011 – 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 – PAOG 25.01.2011 – 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 – PAOG 25.01.2011 – 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 – PAOG 25.01.2011 – A. Brand
Diseasomes
[PNAS 104:8677-8678, 2007]
Public Health Genomics – PAOG 25.01.2011 – 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 – PAOG 25.01.2011 – 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 – PAOG 25.01.2011 – 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 – PAOG 25.01.2011 – 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 – PAOG 25.01.2011 – 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 – PAOG 25.01.2011 – A. Brand
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.
Stratified Medicine
Personalized Medicine
- Patient sub-population
e.g. molecular testing for
tumor mutation
- Individual patients
versus
e.g. cancer vaccine made
from the patient’s tumor
Public Health Genomics – PAOG 25.01.2011 – A. Brand
Epigenomics: The missing link between Environment and
Biomedicine? (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 – PAOG 25.01.2011 – A. Brand
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!
Public Health Genomics – PAOG 25.01.2011 – A. Brand
“… 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!
Public Health Genomics – PAOG 25.01.2011 – A. Brand
Child & Youth Health?
… 4 examples …
Public Health Genomics – PAOG 25.01.2011 – A. Brand
Child & Youth Health - PHG
1. obesity
> insights into a complex and global phenomenon
Public Health Genomics – PAOG 25.01.2011 – A. Brand
Child & Youth Health - PHG
2. asthma
> insights into misclassification of diseases
and the consequences of misclassification
Public Health Genomics – PAOG 25.01.2011 – A. Brand
Child & Youth Health - PHG
3. cancer
> options for personalized healthcare
Public Health Genomics – PAOG 25.01.2011 – A. Brand
Child & Youth Health - PHG
4. newbornscreening
> technology driven innovations and their consequences
Public Health Genomics – PAOG 25.01.2011 – A. Brand
… on the international level?
Public Health Genomics – PAOG 25.01.2011 – A. Brand
Public Health Genomics – PAOG 25.01.2011 – A. Brand
… on the European level?
Public Health Genomics – PAOG 25.01.2011 – A. Brand
http://www.phgen.eu
Public Health Genomics – PAOG 25.01.2011 – A. Brand
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
Public Health Genomics – PAOG 25.01.2011 – A. Brand
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“
Public Health Genomics – PAOG 25.01.2011 – A. Brand
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
– PAOG
25.01.2011
– A.
Brand (16.06.2010)
Institute for Public Health
Genomics
– Department
of Genetics
& Cell
Biology
… the national level?
Public Health Genomics – PAOG 25.01.2011 – A. Brand
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 …
Public Health Genomics – PAOG 25.01.2011 – A. Brand
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
Public Health Genomics – PAOG 25.01.2011 – A. Brand
Thanks for your attention !
Public Health Genomics – PAOG 25.01.2011 – A. Brand