Finnish Biobanks. The most advanced testbed in the world

Transcription

1 Finnish Biobanks The most advanced testbed in the world Jaana Hartikainen, Ph.D., Adjunct Professor in Molecular Genetics Assistant Professor in Translational Cancer Research and Biobank Research University of Eastern Finland (UEF), Kuopio, Finland Biobank of Eastern Finland (BBEF), Kuopio, Finland Cores symposium on applications of big data, sensor networks, robotics and artificial intelligence in radiation safety 5-6 September 2018 TAMPERE Finnish Biobanks / Jaana Hartikainen

2 Finland The most advanced testbed in the world for biomedical research Well-functioning healthcare system Digital health data Health-related registers, e.g.: Cancer Registry, Hospital discharge registry, Birth Registry, Forensic records Register of reimbursable medications, Prescription register Engaged people Genomic data and biobanks Biobank Act Government backing Unique personal identifying number Biobank Act Recalling made easy Privacy terms and informed consent policy Finnish Biobanks / Jaana Hartikainen

3 Biobanking in Finland Biobank is a collection of biological samples and data gathered with the donor s consent for future medical research and product development for healthcare and health promotion purposes. Finnish Biobanks / Jaana Hartikainen

4 Biobanking in Finland The Finnish Parliament approved the Biobank Act on October 2, 2012 (law 688/2012). The law entered into force on September 1, The Biobank Act requires that clinical samples collected for biobank research in the future and samples already existing be stored in a biobank, if collected with the type of consent described in the act. This act will improve opportunities for citizens to obtain information about ongoing research projects that use their samples. The sample donors can also prohibit the use of their samples, at any stage of the research project. The difference between traditional sample collections and the biobank concept is that samples collected in a biobank can be used for a variety of future research needs, not just for a defined specific research purpose. Finnish Biobanks / Jaana Hartikainen

5 Biobanking in Finland From the point of view of the researcher, the most important change made by the Biobank Act is the authorization to compile samples for research programs which are not yet fully formulated. The comprehensive use of existing sample collections in medical research has many benefits. Citizens do not have to be invited on multiple occasions to participate in surveys and donate new samples. Also, samples that have been collected at great expense can be used more efficiently for research purposes, aiding in the development of better treatments and medications. The only Biobank Act in the world that allows contacting the donors if they have given their permission in the consent. Finnish Biobanks / Jaana Hartikainen

6 Biobanking in Finland In Finland, the biobanking activity is governed by the following laws: The Biobank Act New act coming!! The Law on the medical use of human organs, tissues and cells The Law on the status and rights of the patient The Medical research law The Personal data Act The following authorities guide and monitor the Finnish biobanks: The National Supervisory Authority for Welfare and Health (VALVIRA) The National Committee on Medical Research Ethics (TUKIJA) The applicable regional ethical committees Finnish Biobanks / Jaana Hartikainen

7 Public Biobanks in Finland Nine public biobanks, owned by Health care districts and catchment areas, universities, and other research infrastructures The Institute for Health and Welfare (THL Biobank) One private biobank has been established Suomen Terveystalo Finnish Biobanks / Jaana Hartikainen

8 Biobanking in Finland BBMRI.fi National collaboration of biobanks Public biobanks (9) Harmonized procedures across all biobanks Joint projects between biobanks Finnish national node of BBMRI-ERIC FinBioBank - FINBB Finnish Biobank Cooperative, registered in Nov Biopankkien Osuuskunta Suomi Hospital/regional biobanks (6) One-stop shop Supporting the biobanks and biobank researchers Operational support on protocols and processes, QMS Finnish Biobanks / Jaana Hartikainen

9 Biobank of Eastern Finland - BBEF BBEF was registered to the National Biobank Register on by The National Supervisory Authority for Welfare and Health (Valvira) Owners: The North Savo Hospital District (KUH) The South Savo Social and Health Care Authority (essote) The Eastern Savo Hospital District (SOSTERI) The Joint Municipal Authority for North Karelia Social and Health Services (Siun sote) The University of Eastern Finland (UEF) Part of Kuopio University Hospital (KUH) and it s budget Finnish Biobanks / Jaana Hartikainen

10 Biobank of Eastern Finland - BBEF Population base > BBEF s field of research covers the specialty fields in health and clinical care of the owner organizations and stakeholders One of the significant research infrastructures in UEF BBEF supports especially research addressing cardiovascular, metabolic, musculoskeletal, and neurological disorders, cancer, and mental health Finnish Biobanks / Jaana Hartikainen

11 Biobank of Eastern Finland - population Unique population of Eastern Finland Population is highly homogeneous due to geographic barriers and low migration, population history! Main genetic division between Western and Eastern parts of Finland BBEF Kerminen et al., 2017 Finnish Biobanks / Jaana Hartikainen

12 Biobank of Eastern Finland - population Fine-scale population structure Kerminen et al., 2017 Finnish Biobanks / Jaana Hartikainen

13 What kind of samples will be available in biobanks? Blood samples (whole blood, plasma, buffy coat, serum) Tissue samples (FFPE, FF) DNA and RNA isolated from tissues and tissue lysates Secretion samples (e.g. urine, stool, saliva, sputum, pleural effusion, ascites) Cytological samples (e.g. fine needle aspiration samples, brushing and irrigation samples) Cells cultivated from tissues or tumours Circulating tumour cells Finnish Biobanks / Jaana Hartikainen

14 Material in BBEF - Example Consents Archived FFPE tissue samples from KUH Pathology samples from individuals (yy ) Data from hospital records Lab tests, pathology, treatment, imaging New collection (since Sept. 2016) 7304 consents (Sep ) 3562 blood samples whole blood, buffy coat, plasma, serum 245 tissue samples Liquid biopsy collection started (cancer) Collecting of cerebrospinal fluid planned Healthy individuals from replacement hip/knee surgery Samples Finnish Biobanks / Jaana Hartikainen

15 Material in BBEF - Example Consent for re-contact Yes No Notification of significant findings Finnish Biobanks / Jaana Hartikainen

16 Material transfer agreement BBEF may grant access to the Material for research projects that are of high scientific quality and impact, and that correspond with the research area of the BBEF. Promotion of population health Identification of factors contributing to disease mechanisms Prevention of diseases Development of products promoting population health and welfare Development of products and practices used in health care Assignment is always performed based on a written contract to a research institution or company representing the researcher Samples and data are delivered in a coded format All procedures must protect the privacy of the sample donors Returning the sample analyses data to the biobank! Finnish Biobanks / Jaana Hartikainen

17 FinnGen Genotyping 10% of the Finns! Finnish Biobanks / Jaana Hartikainen

18 FinnGen Launched in the autumn 2017 The FinnGen study plans to tap into unique blood samples collected by a nation-wide network of Finnish biobanks. FinnGen will boost the activities of Finnish biobanks by speeding up sample collection and enabling enrichment of samples with genomic data. The study is expected to continue for six years, securing funding of 59M. Finnish Biobanks / Jaana Hartikainen

19 FinnGen Finnish Biobanks / Jaana Hartikainen

20 FinnGen The research project is based on combining genome information with digital health care data from national registries. The study is conducted following the highest standards of data security. The FinnGen will manage anonymous health registry and genomic data without compromising the privacy and integrity of participants. An unprecedented global research project representing one of the largest studies of this type. The data created during the study can be used for prioritizing drug targets based on genomic information, enabling more efficient drug development pipelines and better individualized drug treatment choices. Finnish Biobanks / Jaana Hartikainen

21 FinnGen FinnGen will utilize the extensive longitudinal registry data available on all Finns. The opportunity to define informative and multi-dimensional phenotypes from this data is the key element of FinnGen. Combining data from different registries provides opportunities to construct reliable disease endpoints as well as novel long-term phenotypes of disease progression and therapeutic response. The project will also develop imputation methods that enable achieving near-complete genome variant information without whole genome sequencing. The unique history of the Finnish population makes this a realistic aim. Finnish Biobanks / Jaana Hartikainen

22 FinnGen Genome Data The genomic data produced during the project will be returned to Finnish biobanks from where the sample was delivered, providing the basis for new industrial partnerships, drug trials, monitoring studies, and other private-public projects. The genome data produced in the project will be available in the future in health care, supporting e.g. the prevention of diseases, diagnostics and personalised treatment solutions. Finnish Biobanks / Jaana Hartikainen

23 FinnGen Participating Biobanks Finnish Biobanks / Jaana Hartikainen

24 Thank you! Kiitos!