NordForsk Open Access Reykjavik 14-15/8-2014: Bbmri

1. Nordic Biobank Collaboration – Opportunities and Obstacles
Joakim Dillner
Director, BBMRI.se (Sweden)
Johanna Ekström
Coordinator for BBMRI Nordic pilot project in Sweden

2. What are the Nordic advantages, really? -Possibility to link biobanks to nationwide, comprehensive registries on health data, heredity and sociodemographic factors

3. Personal Identification Number (PIN)
Health care
Registries
Biobanks
Registry infrastructure in the Nordic countries
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A unique number given at birth or at immigration
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Collect health data for e.g. cancer and birth data.
•
It is mandatory to report health events to nationwide registers
•
Health care
•
Research
•
The registries use the PIN
•
The health care system uses the PIN
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The biobanks use the PIN

4. Biobanks with follow-up – an essential infrastructure for medical research
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Biobanking roots: samples and baseline data
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Follow-up for disease and cause of death
Biobanking is not just about not having to collect samples – it is about not having to wait for the outcomes
Strategic development of biobank and registry resources →a unique Nordic advantage

5. Biobanks with follow-up – an essential infrastructure for medical research
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Etiological research
-Causal exposures may have occurred long ago
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Prevention research
-Future diagnoses must be known
Exposure
Disease
Sample occasion

6. BIOBANK STUDY BASE
Registry/ies
1.
Application
2.
Selection of case & controls
3.
Case verification
4.
Data retrieval
5.
Validation of data quality
Biobank/s
1.
Application
2.
Selection of case & controls
3.
Case verification
4.
Sample & data retrieval
5.
Validation of sample & data quality
Scientific coordination: The user perspective
Scientists (PIs) with idea of how to use samples & data
BBMRI Nordic coordinators assist with performing registry linkages and sample/data retrieval
If assembled data and samples are found to be sufficiently comparable and of high quality –> analysis can start
2-4 yrs

7. Scientific coordination: The biobank perspective
→ Biobank
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Limited scientific impact by multiple small projects
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Questionable scientific validity – different hypotheses can not be compared unless included in the same study
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Limited scientific impact of non-coordinated studies threatens the long-term sustainability of the biobanks

8. Scientific coordination: The scientific perspective
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Research on etiology -all risk factors should be studied
→Exactly the same study base with samples and data should be used
•
Predictive sciences -all biomarkers and predictive factors should be studied
→Exactly the same study base with samples and data should be used

9. BBMRI Nordic (Nordic Biobank Network) NordForsk-funded Collaborative Network between the National Biobanking Infrastructures in the Nordic Countries

10. •
Identify and validate samples and data
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Study bases built for one disease at a time
-clinical data and data on exposures
-samples taken both before, at and after diagnosis
Generation and exploitation of Nordic Biobank materials for medical research

11. •
Combine genealogy, prospective cohorts and exposure assessments in several generations
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Use the best available and useful expertise and technologies to fulfill the best possible research purposes applied on the study bases
Generation and exploitation of Nordic Biobank materials for medical research

12. BBMRI Nordic Pilot
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Colon cancer selected as pilot disease
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Expected Result: Very large-scale Nordic study providing information from registries and biobanks, on the etiology and early diagnosis of a pilot disease
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If successful, concept could be copied to enable joint Nordic studies on any disease

13. The BBMRI Nordic pilot project on joint biobank-based research
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Is a research project - it is not a new biobank
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The national biobank platforms will: -Systematically identify i) cases and controls and ii) accessory data from Nordic biobanks using registry linkages using PINs -File applications for ethical permission & biobank withdrawals
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This ”ready-to-use” infrastructure will then be made openly available to Nordic scientists

14. The BBMRI Nordic pilot project on joint biobank-based research
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A real-life standardisation & harmonisation project in the Nordic countries
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High –profile project: to show that the Nordic countries can indeed collaborate on biobank- based sciences
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Optimises the scientific output from biobanks by facilitation of more large-scale sciences

15. Schematic overview of the study
Aim
Cancer registry Statistic Sweden
Environmental, clinical & sample data
Biobanks
Sample retrieval
Nordic PI’s
Heredity in the Nordic countries
Effect of environmental exposure
Validation papers on methods, screening & verification
Possible biomarkers for early discovery and best possible treatment
Relations
CRC cases
Biobanks
Research project

16. Genotyping of Colorectal cancer risk SNPs
Principal Investigator: Lauri Aaltonen, Professor
Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
Genotyping the known >20 CRC risk SNPs in sufficient number of cases and controls should shed light on possible additive effects of risk genotypes and exposure.

17. Ethical application - piloted by Sweden
•
Very general in concept: ”A joint Nordic study on etiology and diagnosis of colorectal cancer.” -Genomics, proteomics, transcriptomics, metabolomics… -Waiving of consent applied for -Biobanks to use: All biobanks registered at the Swedish National Board of Health and Welfare -Ethical and legal arguments checked by BBMRI.se ethicists and lawyers

18. Ethical application
Response from Ethical Review board:
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Be more specific on the analyses.
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Waiving of consent approved, but include a communication plan for conveying information to the public via media, internet and patient organisations Action by BBMRI Nordic:
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Updated the Ethical application with specifics on analyses and included a ambitious communication plan Result:
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Ethical application approved Conclusion:
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The permission has established that large-scale, joint Nordic biobank-based research is allowed also with the present ethical/legal framework.

19. Some identified bottlenecks
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No clear legal basis for general and infrastructural projects – only for ”specific” projects -Solution: Collection of specific projects added to the Nordic work plan already from the start. Caused significant delays
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Some scientific experts say no to collaboration
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The Open Access principle was not as widely accepted as we thought

20. Some identified bottlenecks
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Different ways of working for the biobanks -withdrawals are independent with each hypothesis separated from others, even on the same disease -other biobanks are more disease-oriented with a coordinating scientist for each disease

21. Disease-orientation instead of Project-orientation?
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Biobank in the center
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Research data on disease archived at the biobank -Enables investigating effect of confounding
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No legal obstacles for large-scale data (except that interlinkage requires new permission).

22. Nordic biobanks as key players for international research
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If we ensure that collaborating Nordic biobank cohorts are similarly followed-up for disease endpoints et c using registry linkages – we will create a uniquely large and uniquely reliable study base for molecular research

23. Opportunities for Nordic biobank collaboration
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Routine linkages of biobanks to registries has important implications on development of best practises – notably on how to handle personal identfiers
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It is mostly the Nordic countries who fully understand this issue – crucial to participate in the European development in this area

24. Summary
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Formalities were laborious – but BBMRI Nordic has established that large-scale, joint Nordic biobank-based research -on all biobanks in a country -for quite broad hypotheses is possible and allowed also with the present ethical/legal framework

25. Summary
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Issues within the scientific community very important -Genuine will to share both data and samples (Open Access) -Similar way of working required (preferably disease-oriented with continuous adding of new data to the biobank cohorts) -Genuine will to collaborate outside the home university

26. Acknowledgements
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BBMRI Nordic is funded by NordForsk
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Johanna Ekström & Joakim Dillner (S); Tine Jess, Jan Wohlfahrt & Mads Melbye (DK); Eivind Ness-Jensen & Kristian Hveem (N); Miia Artama, Eero Pukkala & Anu Jalanko (FIN); Andres Metspalu (EE); Jon G Jonasson (IS); Gudrid Andorsdottir (Faeroese)
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Very large number of biobank managers and interested scientists in all the Nordic countries