FinnGen as a Honey Jar for Additional Biomedical studies. Eero Punkka, Helsinki Biobank

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2 FinnGen as a Honey Jar for Additional Biomedical studies 2 Eero Punkka, Helsinki Biobank

3 FinnGen Step 1: Producing genome data 1O % of the population Step 2: Combining genome data with digital health care data 3

4 FinnGen: an example of biobank research Many existing population cohorts have already been transferred to THL Biobank 4 New participants recruited through six hospital biobanks and Blood Service Biobank Cumulative number of new biobank samples available for FinnGen Oct Nov Dec Jan Feb Mar New biobank samples collected at a rate of ~6,000 samples / month Apr 2018

5 FinnGen Add-on Projects 5

6 FinnGen exploitation basics o DNA analysis data returned to biobanks 12 months after each FinnGen data release (taking place every 6 months) o FinnGen samples are stored in biobanks for additional omics measurements o EHR data available from biobanks for more precise phenotype analysis for the FinnGen cohort o Biobanks can organize FinnGen cohort patient recalls if necessary o Biobank legislation changing in 2018 and presumably allowing a wider secondary use of samples and data 6

7 FinnGen add-on project opportunity 7 Clinical focus areas Gastro entero Lung Cardiometaboly Oncology Rheuma Eye Neuro Genetic data FinnGen FinnGen FinnGen FinnGen FinnGen FinnGen FinnGen Registry data FinnGen FinnGen FinnGen FinnGen FinnGen FinnGen FinnGen EHR data Biobank Biobank Biobank Biobank Biobank Biobank Biobank Omics data Company Company Company Company Company Company Company Lifestyle data patient patient patient patient patient patient patient

8 FinnGen business ecosystem generation status 1Q/ Tier 1 partners: seven big pharma companies financing the project are getting ready to data analysis phase 2. Tier 2 partners: discussions ongoing within the FinnGen steering group on the rules of allowing outside companies to contribute and get a partial access to data 3. Finnish health tech ecosystem companies: genomic technology companies actively exploring ways to participate and benefit from FinnGen 8

9 FinnGen funding pharma partners 9 Starting data analysis phase; further add-on project interests in o Detailed drug discovery projects with more comprehensive phenotype data sets o Subpopulation trials for phases 1-3 (with patient recall)

10 Opportunities for the Finnish ecosystem in a public-private partnership o Research services (consulting, bioinformatics, omics): BC Platforms, Medisapiens, Genomill, Euformatics, Genevia, Medfiles, Crown, Medaffcon, Synlab, United Medix Laboratories, Syrinx, Fimlab, Nightingale Health, Fimmic, BCB Medical, Statfinn, Epid Research, Glykos, Experimentica, Medengine o Patient and consumer healthcare: Abomics, Negen, DiagFactor, Woble, Neosmart Health, Evogenom, Blueprint Genetics, Heltti, Terveystalo, Mehiläinen, Pihlajalinna, Aava, Docrates, Pohjola Terveys, Attendo, Coronaria 10

11 FinnGen add-on project concept ideas o Detailed drug discovery projects with more comprehensive phenotype data sets o Subpopulation trials for phases 1-3 (with patient recall) o FinnGen + omics analytics using plasma/serum samples o FinnGen + EHR data analytics with time series formation o Real-world evidence studies on (pharmaco)genetic testing o Decision support tool validation with real-life data o Diagnostic tool development with samples and data o Personalized health service concept testing 11

12 FinnGen Exploitation via Finnish Biobanks 12

13 Biobank ecosystem for personalized medicine Finnish biobanks form the key research infrastructure for conducting biomedical studies. 13 Sample type The old collections transferred (no of individuals) Tissue Plasma / Serum Cells DNA

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15 Access process STEP 1 Data and sample availability inquiry 15

16 Access process STEP 2 Ethical evaluation and applying for samples 16

17 Access process STEP 3 Sample delivery and return of data 17

18 Finnish Bio-databank model 18

19 The strategy for prospective sample collection at HUS Biobank sample from every hospital patient ( annually) 19 PLUS dynamic clinical data content based on the need of the research project PLUS genomic and other biological data from the samples = BIG DATA APPROACH

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22 Summary: what do we offer? access to the sample and data collections for both academic research and industrial r&d possibility to combine samples, clinical data and FinnGen genomic data (2019-) 22 collaboration to build joint focused biobanking operations targeted collections enriching the biological data content test, pilot and implement advanced technologies for data and sample analytics e.g., advanced digital pathology technologies available

23 Thank You! 23