Public Health versus Population Health

Public Health and Public Health Genomics

Angela Brand EUPHA 2008

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 Genomics – PAOG 25.01.2011 – A. Brand

Public Health versus

Population Health


What is Public Health?


Public Health Trias

[IOM, 1988]


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


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)


Obesity ...


… 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 ? • ???


The complex interaction of the main determinants of health ..


… tackling health determinants

and

understanding genome-environmental interactions …


as early as possible ...


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


… genomics is a „moving target“ …


… from the

Human Genome Project

to the

Personal Genome Project …


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!


… need for translating biological complexity

(1) into genome-based research

(2) into health policies

(3) into evidence-based health practice


“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)


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)


NIH Vision (1)


NIH Vision (2)


NIH Vision (3)


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]

TotallyGenetic

TotallyEnvironmental

Struckby

lightning

Motorvehicle

accident

Duchennemusculardystrophy

Cysticfibrosis

Heartdisease

Cancer Schizophrenia

Diabetes

ObesityAsthma

Rheumatoidarthritis

PKU

Alzheimer’sFragile X

Autism

TB

Meningococcus

Multiplesclerosis


phenotype (disease) = mix of totally different entities(e.g., breast cancer, obesity)

ChallengesAre 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






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?


Diseasomes [PNAS 104:8677-8678, 2007]

PNAS 2007;104:8677-8678


genomic variant = risk factor and protective factorat 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)

ChallengesAre we still thinking of health determinants and risk factors in adeterministic way (genetic determinism and social determinism)?Shall we avoid to separate between infectious andnon-infectious diseases?Are we for the first time in history able to understand thegenome-environmental interplay and risk patterns?Are we able to “measure” the success of prevention?


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?


… paradigm shift in Public Health

health promotion and prevention in public health

“one size fits all”

or

risk groups

communities

settings

prevention in public health genomics

individuals

family history

lifestyle

genomic profiling

risks for “diseasomes”

risk groups

with similar risk patterns


Stratified Medicine is about Stratified Medicine is about adapting the treatmentadapting the treatment (molecule, dose, schedule,…) (molecule, dose, schedule,…)

according to the patient’s characteristics according to the patient’s characteristics

for better efficacy and less adverse events.for better efficacy and less adverse events.

Pharmacogenomics (Ilhan Celik, EHFG, 2010)

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


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



2. asthma

> insights into misclassification of diseases and the consequences of misclassification



3. cancer

> options for personalized healthcare



4. newbornscreening

> technology driven innovations and their consequences


… on the international level?


… on the European level?


http://www.phgen.eu


… 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)


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 AdvicePolicy Advice

GRaPH-Int

Public Population Project in Genomics

JRC-IPTS

European Science Foundation

PHG journal

European Health Forum Gastein

EC Research & DG SANCO

OECD

ECDC

European Observatory on Health Systems and Policies

EUPHA

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


… the national level?


PHGEN National Task Forces

June, 19th 2006 – NTF TurkeyJuly, 10th 2006 – NTF Italy November, 3rd 2006 – NTF Portugal November, 24th 2006 – NTF GermanyNovember, 29th 2006 – NTF BelgiumJanuary, 12th 2007 – NTF Spain January, 24th 2007 – NTF NetherlandsSeptember, 25th 2007 – NTF Czech RepublicOctober, 19th 2007 – NTF BulgariaNovember, 20th 2007 – NTF NorwayJanuary, 30th 2008 – NTF PolandApril, 23rd 2008 – NTF HungaryAugust 28th 2009 – NTF Switzerland 2010 – NTF Croatia … in preparation: Slovenia, Iceland, Malta, Sweden, France …


PHG in National Instituts of Public Health

Germany Belgium

ItalyPoland

FinnlandCroatia

The Netherlands?…

• platform for the development of national strategies• vehicle for the promotion of sustainability


Thanks for your attention !

Public Health versus Population Health

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