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FUGE – Biobanks for Health
The Norwegian network of human
research biobanks and health studies
Camilla Stoltenberg
MD, Dr med
Director – Division of epidemiology
Oslo 2005-09-06
Biobanks for Health
The University of Tromsø
Inger Njølstad
Norwegian University of Science and Technology
Kristian Hveem
University of Bergen
Grethe Tell
University of Oslo
Dag Undlien
The Norwegian Institute of Public Health
Camilla Stoltenberg (chair)
Per Magnus
Lars Christian Stene
AIM
Establish a large population based cohort for studies of
genes, environment and health
Identify genetic and environmental causes of disease
Investigate the separate and combined effects of genes
and environment on the risk of disease
Biobanks for Health
Background
from the
human genome project
to
biobanks
Biobanks for Health
Geneticists call for cohorts
• Francis Collins (Nature 2004)
– Calls for a large population based cohort
based on existing epidemiological cohorts
to assess the role of genes and
environment in common diseases
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Pregnancy and Birth Cohorts
• National Child Study, NIH
(Science 2003)
100,000 Births Cohort
2.7 billion USD
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Inspired by
• deCODE genetics
• UK Biobank
• Estonian genome project
• GenomEUtwin
and many, many other initiatives
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What does Norway have?
The whole country is a cohort
• The personal identification number
• National health registries
• Well established large population based
cohorts with biobanks
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Prospective cohort design
• Information on exposure prior to development
of disease
• Investigation of many different conditions and
endpoints
• Avoids recall bias
– Allows accurate measurement of variables known
to be affected by the disease process or by an
individual’s awareness of having a particular
condition
Biobanks for Health
The Norwegian Research Council
established technology platforms
for functional genomics (FUGE) in
2002
A platform for human biobanks was
funded for 5 years with approx 6
mill EURO
Biobanks for Health
Two core components
CONOR
Cohort of Norway
200 000 adults
MOBA
The Norwegian mother and child cohort study
100 000 pregnant women
100 000 children
70 000 fathers
270 000 individuals
– Builds on existing and ongoing studies
– Includes biological samples and standardised health and exposure data
Biobanks for Health
CONOR – COHORT of NORWAY
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170 000 adults included
Regional health studies
Recruited 1991 - 2004
Core questionnaire
– life style, diet, social factors,
selected diseases
• Clinical examination
• Biological samples
– Frozen full blood, serum or clots
• National collaboration
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CONOR – Biobank
Blood samples
• Clots, full blood and serum
• DNA extraction initiated
Location
• Storage at four sites
• Will be centralised in Mid-Norway
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The Norwegian Mother and Child
Cohort Study - MoBa
• Recruitment 1999 - 2008
• Participation by August 2005 nearly 150,000:
– 56,000 pregnant women
– 50,000 children
– 40,000 fathers
• Norwegian institute of public health
Biobanks for Health
MoBa – Biobank
Blood samples
• Mother: gestational week 18 and after birth
• Father: gestational week 18
• Child: umbilical cord
Storage
• EDTA full blood and plasma, aliquots, frozen at
-80oC
• DNA frozen at -20oC
• From ultimo 2004: RNA from cord blood
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Health registries
Linkage provides background variables, exposures,
outcomes and information on bias/attrition
– Cancer registry 1952
– Medical birth registry 1967
– Cause of death registry 1964
– Prescription database 2004
– Vaccinations
– Tuberculosis and other infectious diseases
– Hospital discharge and outpatient registry ?
Biobanks for Health
Clinical biobanks
• Clinical/Disease biobanks
– Routine and research biobanks in hospitals
– Information on disease outcome (endpoints)
• Established collaboration with
– JANUS from 1973: 300,000 individuals, 600,000 sera
– The Hordaland homocystein study 18 000 full blood
– Type 1 diabetes high risk families (MIDIA)
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Genealogy database
• Personal identification number
• Centralised Person Registry in Statistics
Norway
• Complete for all individuals born in 1953 and
later + their parents
• Covers 3-5 generations and can be extended
historically
• Similar database in Sweden
Biobanks for Health
Who and how many will be included?
Population of Norway
The Norwegian
network of human
research biobanks
and health studies
4.6 million
460 000
individuals
all ages
families/trios
Mother &
child
Other FUGEplatforms
Genealogy
research
database
MoBa
BIOHEALTH
Network of Human
research biobanks
and health studies
Health
registries
Cohort of
Norway
CONOR
Clinical and
pathology
biobanks
Projects
Biobanks for Health
Projects and applications
• EU: Coordination action Nov 2004
POPULATION BIOBANKS
– Harmonising population-based biobanks and
cohort studies to strengthen the foundation of
European biomedical science in the postgenome era
Biobanks for Health
Projects
• Gene-Environment Interactions in an Autism
Birth Cohort. NIH 2003-2008,13 mill USD
• Ethics: Mapping the language of research
biobanks and health registries: From traditional
biobanking to research biobanking. UiO, NIPH NFR
Biobanks for Health
Projects
• Cancer:
– Link Biohealth and Cancer registry
– Extract DNA from all cases and a control group
• IT-solutions:
– Establish a web-based system for access to
data and biological samples, and for
accumulation of results from analyses
Biobanks for Health
Projects
• Cancer:
– Link Biohealth to the Cancer registry
– Extract DNA from all cases and a control group
• IT-solutions:
– Establish a web-based system for access to
data and biological samples, and for
accumulation of results from analyses
Future
Complete establishment of
Biobanks for health
Collect information on diseases
Develop scientific projects
And publish!
Thank you
Biobanks for Health
Cohort of Norway
NIPH
The Oslo Health Study
The Oppland & Hedmark Health Studies
The Finnmark & Troms Health Studies
UiT
The Tromsø Health Study
NTNU
The North Trøndelag Study (HUNT)
UiB
The Hordaland Health Study
UiO
The Oslo Health Study
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Collaboration
Projects
Organization
Guidelines
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International and
national networks
• Participation in GenomEUtwin 20022007
• Organized EU workshop:
Biobanks for Health, Oslo 2003
• Coordinator of EU project:
Coordination Action, 2005
• Collaboration with MORGAM 2004
• Participant in EARNEST, EU 2004
Biobanks for Health
Projects
• DNA Variation in Norway. UiO, NIPH
• Mapping the language of research biobanks and
health registries: From traditional biobanking to
research biobanking. UiO, NIPH
• Genes and environment in multiple sclerosis:
MS-BioHealth, a population based cohort study
of MS in Norway. NIPH, UiO, UiB
• Identification of Environmental Triggers of Type
1 Diabetes: The MIDIA Study. NIPH
Biobanks for Health
DNA and RNA extraction
• Overview of biological material in CONOR
• Plans for centralised DNA-extraction of CONOR
material
• ROBOT for DNA extraction from clots
• Plans and pilot for RNA extraction from cord blood
• Ongoing DNA-extraction in MoBa
Biobanks for Health
Organization
• Organization and agreements between partners
• Guidelines for access to biological specimens and
data
Biobanks for Health
Why establish a large
population based
cohort for genetic
epidemiologic
research?
Biobanks for Health
Why cohort design?
• Prospective design
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Large number of individuals
Investment in future research
A basis for nested case-control studies
Major investment – cost effective
Rapid refutal or support of new hypotheses
Avoids certain biases (selection, recall etc)
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Scientific approach
• Data collection only partly hypothesis driven
• Main approach:
– nested case-control with/without additional data collection
– triads (TDT)
• Fishing expeditions: genome scan, all exposures
against all endpoints?
• Model of causation: candidate gene, specific
exposure versus specific endpoint
• Repeated biological sampling: gene expression,
protein activity, new infection, exposure gradient
Biobanks for Health
Why prospective
design?
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Biobanks for Health
Prospective cohort design
• Measurement of blood based molecular and
proteomic factors using samples collected prior to
development of disease
• Prospectively collected blood samples with genetic
information on all cases regardless of severity
(or definition of phenotype)
• Allows investigation of conditions that cannot be
studied retrospectively (death, stroke, dementia) and
inclusion of all cases where case-fatality is high
Biobanks for Health
Prospective cohort design
• Consideration of both risks and benefits associated
with a genotype and/or environmental exposure
• The best source of comparable controls
• Minimises the need for a priori assumptions on the
relationship between genotype, exposure and
outcome
• Investigation of continuous outcomes
• Grows in value as time passes
• Studies based on future technologies and
hypotheses
Biobanks for Health
Why large scale?
Why population based?
Why Norway?
Biobanks for Health
Why large scale?
• yields statistically reliable results
• provides appropriate information on a range of
health outcomes
• accurate information on moderate effects with
clinical and public health relevance
• accurate and comprehensive quantification of
combined genetic and environmental effects
Biobanks for Health
Why population based?
• information with direct relevance to health
in the general population
• direct information on incidence and
prevalence of intermediate phenotypes,
risk factors and disease
Biobanks for Health
Why Norway?
• provides both a large heterogeneous
population
• and more homogeneous sub-populations