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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 Biobanks for Health Pregnancy and Birth Cohorts • National Child Study, NIH (Science 2003) 100,000 Births Cohort 2.7 billion USD Biobanks for Health Inspired by • deCODE genetics • UK Biobank • Estonian genome project • GenomEUtwin and many, many other initiatives Biobanks for Health 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 Biobanks for Health 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 • • • • 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 Biobanks for Health CONOR – Biobank Blood samples • Clots, full blood and serum • DNA extraction initiated Location • Storage at four sites • Will be centralised in Mid-Norway Biobanks for Health 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 Biobanks for Health 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) Biobanks for Health 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 Biobanks for Health Collaboration Projects Organization Guidelines Biobanks for Health 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 • • • • • • 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) Biobanks for Health 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? 50 45 40 35 30 25 20 15 10 5 0 0,0 10,0 20,0 30,0 40,0 50,0 60,0 70,0 80,0 90,0 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