FinnGen: Universal Insights from a Distinctive Genetic Population

Launched in 2017, FinnGen began with the goal of improving health through genetic research. FinnGen has collected and analysed genomic and health data from 520,000 Finns to date—approximately 10% of the Finnish population. It is now the largest such research project in Finland, and one of the world’s leading biobank-based genomic research projects.  

Delving into Finland’s Genetic Secrets 

At various points of history, the Finnish population experienced major population bottlenecks—severe reductions in population size due to incidents such as conflict, disease, famines and natural disasters. In addition, Finland’s relatively isolated location meant that there was limited migration—contributing to a genetically homogenous population. Put together—these qualities make the Finnish population uniquely suitable for genetic study. 

As Professor Aarno Palotie, FinnGen’s Scientific Director, explained, “Our small founder population has resulted in enriched genetic variants—some of which have been associated with diseases. FinnGen has the potential to offer shorter pathways to understanding the genetic mechanisms underlying various conditions and diseases.”  

Due to Finland’s relatively homogeneous genetic makeup, Human Leukocyte Antigen (HLA) imputation is also more accurate as compared to more diverse populations—especially for genetic variants and disease-specific mutations. Reconstruction of Finnish genomes can therefore be done using more inexpensive genotype data, reducing the time and cost needed for research.  

Researchers working with FinnGen’s data can also combine genomic data with Finland’s comprehensive health registers—covering healthcare data for all residents through their entire lives. This includes in- and outpatient records, drug prescriptions and cause of death. As a result, the correlation between genetics and health outcomes throughout a person’s life can be better identified. 

Nurturing Collaborations for Greater Impact 

In addition to leveraging the unique qualities of the Finnish population genome, FinnGen was conceptualised as a public-private collaborative effort—involving Finnish universities, research institutions, healthcare organisations, biobanks and global pharmaceutical companies. Over the years—drawn in part by the data-rich resource that FinnGen has become—more partners from both public and private sectors have come onboard. At present, FinnGen is a large-scale collaboration with over 30 partners.  

Notably, the partnerships are often mutually beneficial. With the project’s growing number of genetic discoveries, biobanks from across Finland—which contributed participant data—have been able to share genetic insights with participants. Prof Palotie said, “Based on our findings, the biobanks got in touch and followed-up with participants at higher risk of specific diseases. We are glad that many patients have expressed their appreciation for the information.”  

Likewise for industry partners—“Our industry partners not only offer intellectual and financial resources, but also a window into the pressing problems that the industry is trying to solve,” Prof Palotie shared. This fulfils FinnGen’s goals of facilitating drug discovery and improving population health—meanwhile the pharmaceutical companies leverage FinnGen’s research findings to inform decision-making for drug development.  

However, as Prof Palotie explained, helming such an extensive project with multiple public-private involvement is a complicated affair. He said, “Take the biobanks, for instance. They are located across Finland, each facing local challenges and with differing data collection methods. Naturally, what they want from our partnership vary.” Similar challenges abound with partners from the private sector.  

To overcome these, Prof Palotie credits strong communication for getting all partners on the same page to enable successful collaborations. “It’s all about communication,” he said. “One thing Mark (Professor Mark Daly, former Director of the Institute for Molecular Medicine Finland and one of FinnGen’s key architects) and I do a lot is listen to our partners—finding out what they expect from our collaboration, while having clear discussions to keep expectations grounded.”   

Future Path to Genomic Breakthroughs 

These efforts have borne fruit—with FinnGen data driving research findings across a wide range of conditions including cancers, cardiovascular diseases, adverse drug reactions and mental disorders. Efforts to turn these findings into clinical practice are also underway—such as incorporating genetic factors into screening programmes for prostate and breast cancers.  

Having collected phenotype and genotype data of 520,000 Finnish individuals over two phases, FinnGen entered its third phase—FinnGen 3—in August 2023. While the first two phases (2017 to 2023) focused on building a resource of genotype and phenotype data and analysing genetic associations, FinnGen 3 aims to further explore disease progression and biological mechanisms underlying the diseases studied in the previous two phases.   

Looking back on how far FinnGen has come since 2017, Prof Palotie reflected, “Much of the project has turned out the way we envisioned. But the number of discoveries uncovered—is much more than we ever dreamt.” Furthermore, FinnGen has become a known biobank resource in genomic studies—with its data tapped on for international research projects. 

Prof Palotie said, “Today, FinnGen contributes to global projects and findings—and I think this is an important development for us, because it’s only through sharing data and results that we can move the field forward and unearth meaningful discoveries for precision medicine.”