Genomics and Epidemiology to Understand and Predict Disease
The rapidly increasing capacity to describe the complete genetic and molecular makeup of an individual is changing the way we understand and treat disease. Finland has a unique opportunity to be at the forefront of this developing field. To meet this grand challenge, our strategy has been, and continues to be, to build and utilise a platform that integrates genomic and health outcome data from Finnish national population registries and biobanks into a globally unique and valuable “big data” repository. This data repository can be utilised for basic research building tools for health care, implementation and public-private partnerships.
Our approach relies on a close collaboration between FIMM, THL (the National Institute for Health and Welfare), HUS and the Finnish biobank network. We also have extensive multidisciplinary collaborations with other national stakeholders (e.g. the Faculty of Medicine of the University of Helsinki, Tekes, Sitra, VTT, the University of Eastern Finland, the Health & Technology Center in Oulu, the Finnish Red Cross Blood Services, the Finnish Medical Society Duodecim, the City of Helsinki and Kymenlaakso Social and Health Services), with industry and with inter-national cutting edge institutions, such as the Broad Institute, the McDonnell Genome Institute at Washington University and UCLA.
We envision that data mining of such a massive health data resource will facilitate predictive and preventive approaches, catalyze innovations in health care, as well as empower individuals to reach out towards better health. In our vision, patients and people are seen as active participants and drivers of a “health care system 2.0”.
Ongoing large-scale projects
The FinnGen research project will construct a unique resource of 500 000 Finns that enables ambitious study designs to improve our understanding of the genetic background of diseases and subsequently for implementation of genome medicine in clinical practice and drug development. The FinnGen research project aims on one hand to provide useful and exciting new data but also construct a world-class resource that can be applied for future studies that combine genetic and health data in a way that is currently not possible on this scale. The study is coordinated by FIMM researchers and led by Professor Aarno Palotie.
The Finnish SUPER study on genetic mechanisms of psychotic disorders is a part of the international Stanley Global Neuropsychiatric Genomics Initiative. The objective of the study is to better understand the genetic and biological background of psychotic disorders in order to provide more accurate information for the development of new therapeutic interventions. The national study was launched in early 2016 and will continue for three years. In Finland the aim is to collect a minimum of 10,000 genetic samples from psychosis patients.
Sequencing Initiative Suomi
Due to Finland’s unique population history, the Finnish gene pool is rather exceptional and thus a specific reference dataset of sequence variants in Finns is needed. SISu is a FIMM-coordinated international collaboration project aiming to build tools for genomic medicine by compiling information about the Finnish genetic variation. The freely available SISu search engine provides valuable summary data on variants from exomes of over 10,000 individuals sequenced in disease-specific and population-wide genetic studies. More information: www.sisuproject.fi
Centre of Excellence in Complex Disease Genetics
This Centre of Excellence is one of the 12 centres selected by the Academy of Finland for 2018–2025. The Centre is lead by FIMM-EMBL Group Leader Samuli Ripatti, Professor of Biometry at the University of Helsinki. The CoECDG brings together 10 PIs who are among the global leaders in complex disease genetics and statistical genetics.
Current heart disease prediction methods based on environmental and life-style factors are insufficient, failing to detect over half the high-risk individuals. KardioKompassi® was developed by researchers at FIMM to meet the need for better and more accurate prediction tools. This next-generation web-tool enables patients and doctors to use genomic data to predict and prevent cardiovascular disease. It uniquely combines traditional medical approaches with multiple recently discovered genetic risk factors. KardioKompassi is currently being used in the Finnish population-based GeneRISK-study.