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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 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
Public Health versusPopulation Health

Public Health Trias

[IOM, 1988]

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)

… 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 ?

  • ???

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

From the human genome project to the personal genome project
… from the ..Human Genome Project to thePersonal Genome Project …

Continuum of genome based knowledge
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

Product and process innovation
Product ..and Process Innovation!

… need for ..translating biological complexity

(1) into genome-based research

(2) into health policies

(3) into evidence-based health practice

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 (PHG) - a journey of 15 years … .. 1997 worldwide four centres of PHG: Muin Khoury (USA) Wylie Burke (USA) Ron Zimmern (UK) Angela Brand (Germany) [email protected] coordination: European Network (PHGEN) International Network (GRaPHint)

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”

Genome environment interactions phgf uk 2005
Genome-Environment-Interactions ..[PHGF, UK, 2005]















Fragile X


















phenotype (disease) = mix of totally different entities ..

(e.g., breast cancer, obesity)


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”?

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”

health outcome = diseasome instead of disease ..

(pleiotropic effect: e.g.

IgG depletion in rheumatoid arthritis and B-cell lymphoma)


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?

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

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”

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)


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?

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”

Personal genome ..

(e.g., permanent changing of the personal epigenome/(genome?) due to

the influence of environmental factors)


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?

Paradigm shift in public health

health promotion and prevention in public health ..

risk groups




“one size fits all”

risk groups

with similar risk patterns

risks for “diseasomes”

… paradigm shift in Public Health

prevention in public health genomics


family history


genomic profiling

Pharmacogenomics ilhan celik ehfg 2010
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


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

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!

“… 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!

Child & Youth Health? ..

… 4 examples …

Child & Youth Health - PHG ..

1. obesity

> insights into a complex and global phenomenon

Child & Youth Health - PHG ..

2. asthma

> insights into misclassification of diseases

and the consequences of misclassification

Child & Youth Health - PHG ..

3. cancer

> options for personalized healthcare

Child & Youth Health - PHG ..

4. newbornscreening

> technology driven innovations and their consequences

… 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 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“

Policy Advice ..



Public Population Project in Genomics

PHG journal



European Health Forum Gastein

European Observatory on Health Systems and Policies

EC Research &



European Science Foundation

Institute for Public Health Genomics – Department of Genetics & Cell Biology (16.06.2010)

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 …