Utilizing Genomics for Personalized Healthcare Intervention and Follow-up
Enhance healthcare with genomics by providing genetic and metabolic risk information to Biobank participants, implementing personalized medicine, training professionals, and promoting preventive care. Explore processes and questionnaires to optimize health outcomes.
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Presentation Transcript
Genomics to Healthcare - Intervention and Follow-up (P6) Mikko Kuokkanen, PhD National Institute for Health and Welfare (THL) 3/21/2025 1
P6 Goals P6 - Genomics to Healthcare To provide information for Biobank participants of their genetic and metabolic risks How they react on the information To bring personalized medicine as a part of daily practice Training healthcare professionals, policymakers, citizens To shift the emphasis more towards to prevention To encourage citizens to take more responsibility of their own health To prepare the healthcare system for fulfilling the National Genome Strategy and the Health Sector Growth Strategy planned by the Government *P6=P4 Medicine (predictive, preventive, personalized and participatory) + Population Health + Pohjois-Karjala 2.0 3/21/2025 2
Process 200K new participants in the FinnGen study will be actively contacted to take part in the study Re-consent, usually 50-55% -> 100k E-questionnaire (life style etc) Selected 5000 given F2F counseling in a randomized control trial setting Plasma samples will be analysed for NMR metabolomics A set of a few traits and diseases will be tested for functionability in the FinnGen legacy samples Working ones will be selected for feedback Web feedback will be opened up to all FinnGen participants (500k) (no active contact) 3/21/2025 3
P6.fi 3/21/2025 4
Questionnaires Baseline questionnaire Conception of one s risk for the disease Basic knowledge of genetics and genetic risk Life style, diet, smoking, exercise etc. baseline data Follow-up questionnaires Conception of one s risk for the disease Life style changes Experiences on receiving results Experiences on the web portal as the media for receiving results 21.3.2025 5
Why F2F feedback? Just letting know, is it enough? Hollands et la. 2016 No. Trial of the system Training of the healthcare professionals A direct test of the PORS potential in preventing endpoints The F2F feedback is designed as a RCT 3/21/2025 6
Whom to tell? High risk Per age group, per sex, per life style Level of risk should be selected Comparable to existing examples (like smoking etc) Benefits from feedback Actionable treatment/screening options Statin/metformin/PSA/mammography Already has the disease: probably not helpful Coronary disease an exception? A budgetary question as well 3/21/2025 7
How to tell? Training of the professionals of essential importance Relevant clinical experts consulted before training The PRS should be related to current practice ( k yp hoito ) in Finland and treated mostly in a similar way. 3/21/2025 8
Why we do this Testing the implementation of PRS They are here whether we want it or not (DTC) Danger that only the ones with monetary and other resources will get access to the technology Giving back to biobank volunteers Health benefits (remains to be seen by us!) Participation rate + Positive publicity for both biobanks and FinnGen Trial run for genomic medicine in Finland Builds up mechanisms, tools and partnerships 3/21/2025 9
P6 National Institute for Health and Welfare (THL) is running the project Scientific PI Professor Markus Perola Collaborators Business Finland, Sitra, HealthTech companies, Biobanks (FinBB), Universities, Social and Health Ministry 3/21/2025 10
Influence 21.3.2025 11
