Samuli Ripatti, PhD
Professor of Biometry, University of Helsinki
Research Group Leader, Institute for Molecular Medicine Finland (FIMM)
Phenome-wide scans using genome-wide variation and decades of health registry data in Finnish Biobanks
The long history of systematically coded major health events using electronic nation-wide population-based health registries in the Nordic countries provide special opportunities for genetic studies. In particular, the possibility to link information from various registries including for example prescription drug purchases, in-patient and out-patient records and deaths using unique personal electronic identifiers together with genomic profiles, allow for rich genetic and epidemiological study designs. We illustrate these opportunities by analyzing data on Finnish population-based and clinical biobanks with close to 50 years of registry-based health event data. As examples, we present 1) phenome-wide scans across the major health events for hundreds of loss-of-function (LoF) variants enriched in Finland, 2) strategies for evaluating risks of cardio-metabolic diseases and common cancers when combining polygenic risk with routinely used clinical measures, and 3) early experiences from returning genomic and clinical risk back to 7000 individuals. As the number of genetically profiled individuals grow, the rich life course health event data provide a powerful platform to study health events of carriers of candidate variants and test for predictive tools to disease risk and management across hundreds of diseases.
