Nordic health data registries biobanks advanced e Science
Nordic health data registries, biobanks, advanced e. Science tools for improved cancer prevention: NIASC Davit Bzhalava, Ph. D Dept. of Laboratory Medicine, Karolinska Institutet, Sweden
The Nordic Information for Action e. Science Center of Excellence
Well known Nordic strengths that need to collaborate, be interlinked and focussed on implementation § Health data registries: Comprehensive data on all visits to healthcare and all major diseases, linkable on PIN. Started with the Cancer Registries. § Biobanks: Comprehensive storage of biospecimens & associated data, e. g. large population cohorts and all cases of cancer. à Nordic countries first to launch National Biobanks (E. g. BBMRI. se, BBMRI. fi, Biobank Norway (BBMRI. no), Biobank Denmark. Pan. European biobank infrastructure BBMRI-ERIC launched in 2013. § Organised cancer screening programs: targeting the entire population, best results in the world – in particular regarding equity. § Advanced e. Science competence § But cancer screening still ”one-size fits all”, using paper-based invitations! Davit Bzhalava NIASC Espoo 2015 -05 -04 December 22, 2021 3
Main goals for NIASC 2014 -2018 The NIASC is seeking ways to tailor screening to facilitate testing based on individual disease risk. Overall aim: § Develop e. Science tools to enable implementation of riskstratified cancer screening polices àEstablish the use of at least one e. Science-based predictive algorithm within a national screening program by program end in 2018 àEstablish a significant legacy of e. Science tools Davit Bzhalava NIASC Espoo 2015 -05 -04 December 22, 2021 4
From Information to Action • Nordic populations at risk of cancer • Biobank samples and Register data • Linkages and Omics Analysis • Interpretation using e. Science tools • Develop e. Science-based risk algorithms • Cancer screening intensity tailored to cancer risk = better health Davit Bzhalava NIASC Espoo 2015 -05 -04 December 22, 2021 5
Project spectrum: from generic to highly applied § National Biobank Inventories § Computational methods for genetic cancer susceptibility analysis § Efficient imputation pipeline for GWAS data and low-frequency variants § Machine learning methods for cancer risk stratification § Text mining of cancer symptoms and comorbidities in patient records § Prediction and micro-simulation of prostate cancer § IT-system development for risk stratification in screening § SOIGNon. S: societal games to nudge people into attending screening Davit Bzhalava NIASC Espoo 2015 -05 -04 December 22, 2021 6
Current status of screening for the NIASC included cancer forms § Cervical cancer: national screening programs established, risk prediction/stratification possible through high-risk HPV testing, with potential for adapted screening intervals § Breast cancer: national screening programs established, risk stratification on trial stage, efforts to combine SNP’s and biomarkers such as breast density proposed but challenging § Prostate cancer: screening using PSA testing proposed but at trial stage. Prospects for risk prediction/stratification using panel of SNP’s and PSA combined appear promising § Colorectal cancer: screening programs using fecal Hb partly used, risk stratification only on sex so far. SNP’s promising avenue? Further evidence-base needed Davit Bzhalava NIASC Espoo 2015 -05 -04 December 22, 2021 7
Biobanks with follow-up – an essential infrastructure for cancer research § Molecular research is based on biospecimens. § Etiological research àSearch for explanations to differences in cancer occurrence. § Causal exposures may have occurred long ago or may change over time. § Clinical research àSearch for biomarkers of response to treatment § Clinical outcome must be known. § Prevention research - Search for early diagnosis methods/screening tests - Future diagnoses must be known. Davit Bzhalava NIASC Espoo 2015 -05 -04
Biobanking: Longterm longitudinal followup without having to wait. . § Biobanking roots: samples and baseline data § Follow-up for disease and cause of death – preferably for decades - is necessary to provide the ”study base” that molecular research can be based on. § Requires linkage of biobanks to comprehensive registers – Nordic advantage § Requires solid experience of handling personally identifiable data. Davit Bzhalava NIASC Espoo 2015 -05 -04
Biobanking is not just a warehouse of samples • but also how to store and analyse large amounts of data. • it calls for interdisciplinary collaboration and access to both broadranging and specialised expertise and services. Davit Bzhalava NIASC Espoo 2015 -05 -04
The need for a Nordic concerted effort § Will achieve improved e. Science and improved translation to health policies through increased researcher mobility between Nordic countries, training and synergy effects § Joint development and sharing of e. Science tools, adapted to unique Nordic infrastructures (registers, biobanks and organised screening programs) Davit Bzhalava NIASC Espoo 2015 -05 -04 December 22, 2021 11
The key tools: e. Science approaches 1. Nordic Biobank Register (sample tracking & basis for studies) 2. Handling, validation of next-generation sequencing (NGS) data 3. Feedback to citizens (guidelines, thresholds) 4. Micro-simulation and risk prediction models 5. ICT: data collection, text mining, data storage, risk-based screening invitations, communication, mobile apps Davit Bzhalava NIASC Espoo 2015 -05 -04 December 22, 2021 12
The Nordic teams in NIASC - National Biobanking Infrastructures: BBMRI. se, BBMRI. fi, BBMRI. no, BBMRI. ee, Biobank Denmark: biobanking and sample info - Bioinformatics Infrastructures: ELIXIR national nodes (e. g. BILS in Sweden (Bioinformatics in Life Sciences): big data and large-scale computational efforts) - Nordic Cancer Registries, screening registers and the organised cancer screening programs in Finland, Sweden, Norway and Iceland. - Formalised collaboration with Ne. IC (Nordic e-Infrastructure Collaboration) Davit Bzhalava NIASC Espoo 2015 -05 -04 December 22, 2021 13
Partners in NIASC § § Danmark Statens Serum Institut § Mads Melbye Technical University of Denmark § Søren Brunak Estonian Genome Center § Andres Metspalu Finland University of Helsinki § Lauri Aaltonen § Aarno Palotie § Anu Jalanko Finnish Cancer Registry § Eero Pukkala Icelandic Cancer Registry § Laufey Tryggvadóttir Davit Bzhalava NIASC Espoo 2015 -05 -04 § Norway Norwegian University of Science and Technology (NTNU) Kristian Hveem Cancer Registry of Norway Giske Ursin § Sweden Karolinska Institutet Joakim Dillner (Principal Investigator) Jan-Eric Litton Mark Clements Henrik Grönberg Cancer Screening, Stockholm County Council Sven Törnberg Stockholm university Hercules Dalianis Uppsala University Jan Komorowski Bengt Persson § Poland University of Warsaw Piotr Bała December 22, 2021 14
NIASC and sensitive data § Sensitive data: All kinds of information that is directly or indirectly referable to a natural person who is alive constitute personal data (Information on the Personal Data Act http: //www. regeringen. se). § Nearly all of the NIASC’s data are sensitive since they contain markers that can identify individuals, and there are special requirements and restrictions relating to the sharing of such data. Davit Bzhalava NIASC Espoo 2015 -05 -04 December 22, 2021 15
NIASC and sensitive data Processing of personal data (Information on Data Act http: //www. regeringen. se): the Personal § § Collection Registration Storage Disclosure by transfer, dissemination or other provision of data § Compilations or joint processing. Davit Bzhalava NIASC Espoo 2015 -05 -04 December 22, 2021 16
NIASC and sensitive data Information on the Personal Data Act (http: //www. regeringen. se): § It is prohibited to process personal data relating to health or sexual life! § THIS DOESN’T APPLY IF: àwhen the registered person has given explicit consent àwithin health and hospital care, if it is necessary for preventive medicine, medical diagnosis, care or treatment, or the administration of health and hospital care. Davit Bzhalava NIASC Espoo 2015 -05 -04 December 22, 2021 17
Thank you! NIASC homepage: www. nordicehealth. se davit. bzhalava@ki. se Davit Bzhalava NIASC Espoo 2015 -05 -04 December 22, 2021 18
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