The Finnish Genomic Research Landscape and FinnGen Why Finland? X Countries with Biobanks X Universal Healthcare X Unique personal identity code X Isolated population X Recalling made easy (biobank act + social security number) From Discovery to treatment and prevention 10 – 20 years Innovative Study Designs National registers Hospital discharge Hospital procedure Register data for Outpatient visit administration Outpatient procedure Primary care Register data for Primary151167 care procedure-123J administration Cancer register Cause of death Register data for administration Drug purchase Drug reimbursement Nationwide registries 02/04/2021 Data from every healthcare visit over a lifetime, nationwide 9 Ministry of Health Ministry of Education Ministry of Employment and Welfare and Culture and Economy Health Sector Growth Strategy Government backing • National Genome Strategy • The Biobank act • Secondary usage of register data • National Genome Center The Finnish Biobank Act is Unique • Registration of biobanks, wide consent and protection of 10 Biobanks participants • Transfer of existing sample and data collections to biobanks • Possibility to recontact • Possibility to collect samples and data from the health care • Covers the whole country • Collaboration with industry Five University Hospital Districts 742 000 1 111 000 816 000 869 000 1 904 000 15 Photo (c) Jussi Hellsten/VisitHelsinki Jussi (c) Photo Portal to ”all” health care information Secondary use of data legislation Act on Secondary use of Health and Social Data USERS • To ensure authorities, institutes and companies access to health and social data in Finland DATA PERMIT AUTHORITY • To provide efficient and secure procedures to SECURE ENVIRONMENT utilize the data in research, development and innovation activities, education and knowldedge management duties BIOBANKS, STATISTICS, KANTA, NATIONAL SOCIO- GENOME MY KANTA REGISTERS ECONOMIC CENTER DATA Data Permit Authority Sensitive health and bio data & HPC in Finland 1.980 CSC computing computing projects by PIs in health & bio area One of the largest consumer of CSC billing units (30%) DMPTuuli Discovery: Beacon, EGA Access management: • DMPTuuli : data management planning tool REMS • Beacon, EGA : openly searchable indexes Storage: Allas • REMS : secondary use access management tool • Allas : encrypted, local cloud storage • secure HPC, FEGA: secure desktop to HPC • FEGA : national storage, international discoverability Secure Federated EGA computing FEGA Federated European Genome Archive Ministry of Health Ministry of Education Ministry of Employment and Welfare and Culture and Economy Hospitals Universities Business Finland + + + 25 POPULATION HEALTH BIOBANKS GENOME DATA ISOLATE REGISTERS INNOVATIVE STUDY DESIGNS Finland, a population isolate EARLY SETTLEMENT • 2000-10 000 years ago 26 • South and Coast LATE SETTLEMENT • 16th century • multiple bottle necks LATE SETTLEMENT EXPANSION • 18th century – population 250 000 • Today – population 5.5 million EARLY SETTLEMENT Power of a Genetic Isolate 27 Specific damaging genetic variants become enriched and easy to discover Reconstructing genomes of Finns (’imputation’) from inexpensive genotype data is much more accurate than in the rest of the world Genetic isolate • Consequences for: 28 • Medical and genetic research • Genetic diagnostics Genetic isolate • Consequences for: 29 • Medical and genetic research • Easier to identify disease associated genetic variants • Genetic diagnostics • Unique spectrum of diseases and genetic variants to test 500,000 individuals 10% of the population 30 Existing sample collections: 200,000 Finns 300,000 new sample donors by the end of FinnGen2 FinnGen National Health Register data 31 500 000 individuals 500 000 individuals ~1O % of the Combined genotype and Association analyses population register data Imputation Axiom GWA array Public-private research project 32 Academic institutions Pharmaceutical and public health care industry Industry Scientific discoveries Clinical research Clinical Industry testing 33 Basic research Clinical implementation eHealth data National registers Population health implementation Samples in biobanks 34 441 000 participants 441 000 participants, so far 285 000 new samples collected Expanded Phenotype Potential 20000 35 15000 10000 12000 5000 9000 0 6000 1 10 100 1000 10000 # events per individual 3000 Mean 340 health events per individual 0 (including 186 drug purchases) 0 30 60 90 current age or age at death Longitudinal analyses 36 Data protection 37 PARTICIPATION IS VOLUNTARY AND THE 01 CONSENT CAN BE WITHDRAWN SAMPLES ARE CODED AND FINNGEN CAN NOT 02 IDENTIFY PARTICIPANTS GENOME DATA, ANALYZED AND 03 PRODUCED FROM BIOBANK SAMPLES, IS OWNED BY FINNISH BIOBANKS Sandbox for Data Analysis, version 2 Approved users anywhere finngen.fi 38 in world Google Cloud Industry: Individual and group Abbvie Astra Zeneca workspaces Sandbox Biogen Celgene GSK Summary and count Genentech Merck/MSD level results for export, Novartis Pfizer Sanofi download, portals Janssen Maze Academic: UH, HUS, THL, Finnish Biobanks, standard or custom Sandbox Hospital Districts, Tools Universities in Finland or US, EU • Secure access to individual level data • Data cannot be copied A wealth of new discoveries More than 400 Finnish specific gene associations 39 40 € 41 Success with from analyzing first 269,000 participants.