Goals

FinnGen is a medical research project, whose principal aim is to improve our understanding of the genetic background of diseases. By constructing a unique large-scale genomic and health resource, we strive to enable ambitious study designs - not only for basic genetic research, but also for drug discovery and the implementation of genome medicine in clinical practice.
Blood samples are placed in a centrifuge.

Achieved scientific goals of FinnGen

The primary aim of FinnGen was to produce close to complete genome variant data in a large Finnish collection of biobank participants using GWAS genotyping and imputation that is based on a population specific whole genome sequencing imputation backbone. Since most of the biobank samples have been collected during the study, coordinating and supporting sample collection activities in Finnish biobanks has been one of the main focuses of the project.

FinnGen is utilising the extensive longitudinal registry data available on all Finns. The opportunity to define informative and multi-dimensional disease phenotypes from this data is the key element of FinnGen and creating the best practices to do that is one of the key activities of the study. 

The above data sources have been used for performing thorough genetic association studies in all available disease phenotypes. This so-called GWAS-PheWas approach where the impact of all genetic variants is tested across a broad range of human phenotypes is the main scientific strategy of FinnGen. These analyses have been performed for each of the FinnGen data freezes.

Future scientific goals of FinnGen

During the next few years, FinnGen will address two of the key challenges that have hindered the transition of genetic discoveries into novel medicines and diagnostics. First, FinnGen will engage in studies which will enhance our understanding of the longitudinal aspects of health and disease and second, FinnGen will support mechanistic inference for the earlier uncovered genetic signals.

In addition to maintaining FinnGen’s core activities of updating the resource and maintaining the vibrant collaborative analysis environment, the primary goal of FinnGen 3 is to leverage the rich FinnGen genotype and phenotype resource, and discoveries made with it, to enhance target prioritisation as well as the development of personalised medicine. Specifically, the focus activities of FinnGen 3 will involve the addition of functional screening data and enhanced phenotypic data on FinnGen participants. Combining data from different registries provides opportunities to construct reliable disease endpoints as well as novel long-term phenotypes of disease progression and therapeutic response. 
 

Broader societal goals of FinnGen


With FinnGen, Finland has taken a big leap forward in growing excellence in biomedicine. The following aims were defined at the launch of the study:
 

Aim 1: Produce medical innovations by combining health registry and genome data.

Aim 2: Support Finland to become a pioneer in biomedicine and personalised healthcare.

Aim 3: Create a co-operation model between public sector and healthcare industry.

Aim 4: Provide early access to new personalised treatments and health innovations for all Finns.

Aim 1 and 3, have already been met. The study has identified hundreds of previously unknown genetic risk-causing and protective variants specific to the Finnish population. By producing and returning the genome data of half a million Finns to the partnering biobanks, FinnGen has strengthened the Finnish health ecosystem significantly. 

The cooperative model is highly valued by our partners. A tangible indicator of this success is the increase in partners from the pharmaceutical industry. Initially, seven international pharmaceutical companies joined the project in 2017, and since then, seven more have become partners. For aim 4, the FinnGen team is committed to promoting the utilisation of genome data and discoveries in genetic research in the Finnish healthcare system.