Kati Kristiansson, a leading researcher at Finnish Institute for Health and Welfare (THL), and her team utilize genomic data returned from the FinnGen project to the THL Biobank in their research work.

The importance of large genome data collections

Large genome data collections are important for the effects of genes to begin to show in analyses. Therefore, genome data returned to the biobanks from research projects are of utmost importance for new genomic studies.

As much data as possible is needed to study common diseases, as the effects of individual genes may be only minor. Therefore, it is extremely important that we can utilize previously produced large datasets as they enable the effects of individual genes to become detectable.
In the data collections that we use, hundreds of thousands of chromosomal sites, which are known to contain gene variants associated with the diseases of interest, have been genotyped. This number is then increased by computational methods that increase the number of chromosomal loci to about 14 million. This is enough for most studies, such as studies on chronic diseases posing a serious public health issue.

When studying more rare genetic variants, it is necessary to have access to data in which the entire genome has been sequenced, i.e. the base sequence of the genes has been elucidated.

This process enables the determination of the entire DNA base sequence, but it is expensive to produce.

Genotyping, on the other hand, is a well-established and more cost-effective option, especially for large datasets. In the large FinnGen biobank study, the complete genome variant data of 500,000 Finnish sample donors will be generated using GWAS (genome-wide association study) genotyping. This is a great opportunity not only for FinnGen, but also for other studies for which the genome data is available via Fingenious^®service managed by FINBB.

Polygenic risk scores can help prevent common diseases

The utilization of genomic data in prevention and treatment of common chronic diseases is being studied in the national Genomics to Healthcare (P6) project coordinated by THL.

The project assesses, among other things, the genetic risk of developing specific common diseases. Analyzes have already been executed to assess the polygenic risk score for coronary heart disease, venous thrombosis and type 1 and type 2 diabetes.

The objectives are, for example, to determine whether the polygenic risk score can be used to identify diabetes patients at an increased risk of complications, or how a more common polygenic risk score predicts the occurrence of a venous thrombosis.

Prevention and early healthcare are the crucial opportunities for future healthcare. The aim of our research is to utilize genetic information for the prevention of common chronic diseases.

Breakthroughs in research are available for new discoveries via the Fingenious^® service

Fingenious^® service provides a one-stop access point to genome data returned to the public Finnish biobanks. The latest batch of returned FinnGen genome data is from data freeze 5 (DF5), which contains genotypes of almost 300,000 sample donors covering nine biobanks in total*. Fingenious^® service currently offers access to GWAS data from seven public biobanks together with biobank samples and sample donor associated phenotype data.

* Auria, Blood Service, Borealis, Central Finland, Eastern Finland, Helsinki, Tampere, THL, Terveystalo (available via Fingenious^® service)