Deep in the belly of the University of Helsinki, large metallic cylinders line a basement lab. While the setting is clinical, scientists have added a playful touch with snow-themed name tags on each of the vats. Still, the mission of the lab is serious — inside “snow queen” and “snow castle” lie genetic samples that could potentially help decode genetic variants responsible for disease.

Finland is unique 

Finland came onto the world stage last year when it was named “happiest country” by Forbes. But it isn’t just their happiness scores that make the Finnish people unique. 

Situated in the far northeast corner of Europe, over the last few millennia Finland has seen less immigration than other parts of Europe. This has led to Finland becoming one of the largest population bottlenecks, meaning that the Finnish gene pool is largely homogeneous. 

This fact can help scientists pinpoint gene variants that are linked to specific diseases, Anu Jalanko, project manager at FinnGen, said at a media event in June. Instead of researchers sifting through billions of variants to link them to a disease or condition, they need only sift through hundreds of thousands.

“We geneticist use this fact to have an easier time to identify variants, and identify specific variants in complex situations,” Aarno Palotie, scientific director of the FinnGen Project, said at HIMSS Europe in June. 

The country has taken advantage of this feature, as well as its cohesive patient health records and pro-research biobank laws, to launch the FinnGen Project, a public-private research partnership that aims to bring 500,000 genomic samples (roughly 10% of the Finnish population) together with health records to help understand the origins of disease, prioritize drug treatments and come up with potential new therapies. The project officially kicked off in 2017 and will span a six-year period. 

Though hardly the first national genome project, the unique genetic and health dataset have landed it international attention from major pharma partners. 

The project currently has a total of €70 million in funding, €50 millions of which comes the project’s international pharma partners including AbbVie, AstraZeneca, Biogen, Celgene, Genetch, GSK, MSD, Pfizer and Sanofi. The other €20 million comes from Business Finland, a government agency responsible for innovation funding, according to materials provided by the agency. 

"FinnGen is a unique data source of genetic information and health data,” Cecilia Young, Celgene, Nordic medical director at Celegene Nordic, said in a statement. “This constitutes a very valuable resource to identify novel targets for drug development, to validate known targets with causal human biology from 500,000 European individuals, as well as to perform robust safety and efficacy predictions and to conduct recall/epi studies. Additional partnerships will for sure emerge from this project, and this data source, including follow-up information, has the potential to become one of the very best in the world."

While these partners are the main funders, the project will also include collaborations with Finnish biobanks, hospitals, universities and the healthcare industry. 

Finland’s population bottleneck, isn’t the only key component to this research project, as there are several other aspects that make Finland ripe for such an initiative. Like many countries in the area, Finland has a government-run health system, which is able to track its population’s health records across a lifetime. 

“The key thing in Nordic countries is that we all have been collecting data on the usage of the healthcare system over decades,” Palotie said. “Whenever in the country you visit a hospital, your diagnosis of the discharge is registered in one central place in a structured form. ... What it does is it builds a story and data from every healthcare visit over the lifetime."

As partners of the FinnGen Project, the country’s ten biobanks are contributing data. This is in part facilitated by Finland’s biobank laws, which enable researchers to use donated samples for more than one specific study purpose. While this project is actively recruiting new participants, scientists are able to pull from the existing dataset. 

“The Finnish biobank is quite unique. Whoever consents to biobank, consents to broad health research,” Palotie said. “You don’t have to say you can only study diabetes or only study Alzheimer’s disease, it covers all medical research. What is also innovative [is] there is the law stat[ing] that collaboration within industry is ok.”

Another contributing factor is Finland’s history and culture of data sharing, according to Finland’s Health Ministry officials. 

“One very important thing is if you think about Finnish citizens, they have a very positive attitude towards research and they are willing to participate in clinical trials and they are ready to develop healthcare services,” Tuula Helander, senior advisor in foreign Ministry for the government of Finland, said at a media event in June.  

While the project will give insights into the Finnish people, scientists explain that the findings of this project have the potential to impact broader populations. 

“[The gene variants] are actually existing in other populations so they can be really useful. It is just easier to find them. That was a very important thing for the pharmaceutical industry,” Jalanko said. 

What about the sample donors?

While the project is aimed at gaining insights into diseases on a broader scale, individual participants enrolled in a biobank are able to control their data and request details about their results. 

“Patients have rights. The patients have the right to ask about the research and their own results,” Jalanko said. “They can even ... get themselves all the results that have been done in the study. That’s a really difficult question currently we are [grappling with]; how much data should we give back to the patient?”

With the growing sample size, due in part to the FinnGen project, biobanks are now kicking off the conversation about ways to more easily facilitate providing participants with insights into their personal genomic information. 

“Currently the biobanks are not returning routinely the data. There is a plan and there is a workgroup nationally, because FinnGen will collect a lot of data and that will go back to biobanks,” Jalanko said. “So currently we are thinking there will be a participant portal, an electronic portal, where you can go and look at the results.”

However, if a participant is identified as having a specific condition that can be treated, the biobanks are able to alert the donor. 

“For example, if the patient or participant is a carrier of some severe mutilation, then they have to return the data and then we have to direct this patient into genetic counseling,” Jalanko said.   

While the biobanks will refer people with treatable or manageable conditions to gene counseling, there is an exception: untreatable conditions. 

“It is not ethical to inform people of diseases that cannot be treated. At the national level and the ethics committee, we discuss these things,” Jalanko said. 

Patients have the option to pull out of the project at any time. 

“Built into the biobank law are provisions we can adhere very strictly to and build a computational construct around to ensure that individuals at any time can withdraw from the biobank,” Mark Daly, director of the Institute for Molecular Medicine Finland (FIMM) at the University of Helsinki, said at HIMSS Europe. 

Considering the sensitive nature of the data, security is another hot topic in this project. Throughout the process, all of the data remains under the jurisdiction of the biobanks. The project specifically spells out that pharmaceutical companies involved in the project will not at any point own the samples or data. 

In order to be used, each sample is encoded and anonymized. The project also promises that the samples will not come out of a secure computing location at anytime, according to Daly. 

“We have a computational environment that is entirely secure but permits analytic activities essentially,” Daly said. “We implement this on the Google Cloud, which is extremely secure, and we are now able to upload analyses on that data that take place in the secure area. The results of those analyses come back out for our use in our institute and for distribution and sharing results around the world.”

While the results will be transferred to a global sphere, the data will remain in Finland. 

Where are they now?

Within the first year the project collected over 100,000 samples, according to materials provided by Business Finland. Additionally, Palotie noted that 290,000 Finns have signed into the biobank research platform that will be part of FinnGen’s approach. 

 With this data, researchers have already begun making connections. 

“We find for example a very new and strong predictor of inflammatory bowel diseases that is actually specific to the Finnish population,” Daly said. “We also find with other more common diseases, such as asthma and Type 2 diabetes, that we in fact have discoveries of genes that have been made in many other populations, particularly large European collaborative studies over the years. But we also find additional information, not only for those previously discovered genes but also new discovered genes.”

While these discoveries are specific to Finland, they could give the broader world more information about disease. 

“This tells us about disease risk and prediction within Finland but the biological pointers we get [regarding] what genes are involved in disease are biological facts that apply to all humanity,” Daly said. “So the discoveries that are made in this project then have a broad impact."

Editor's note: This story was reported in Finland, on a trip partially paid for by Business Finland, a public agency for funding research. As always, MobiHealthNews maintains its editorial independence and made no promises to Business Finland about the content or quantity of coverage.