Hannele Laivuori, coordinator of the SISu project, believes that openness is necessary for the future development of medical research. The Project has created an open and internationally unique database of Finnish genetic variation.

The autumn Monday along the borders of Helsinki and Espoo is quiet. The sun is rising behind the grey clouds, and a lone swan swims on the calm sea. The quiet scene would look like a landscape painting, if not for the intermittent cyclists whizzing down the wooden Tarvaspää bridge.

One of these cyclists is Hannele Laivuori, MD and coordinator of the SISu project. She knows that these Finnish vistas have harboured something unique through the centuries – genomes which are now arousing international interest.

From isolation to the international stage

The history of human habitation in Finland has had a significant impact on the hereditary diseases of Finland. Due to historical bottlenecks and geographical isolation, some European hereditary illnesses are practically nonexistent in Finland, while the country has generated regional hotspots for other disease genes. It is these hotspots that have evoked the interest of researchers in Finland and elsewhere. 

Hannale Lauvuori, SISu-projektin koordinaattori, lääketieteen genomipankki

 “There is a great deal of research focusing on Finnish genomes, as we have large quantities of variants which are rare elsewhere," Laivuori explains.  

For example, congenital nephrotic syndrome is a recessive genetic disease in the Finnish disease heritage. Its prevalence in northern Finland has been studied from church records and through interviews, among other methods.

Studying genomes like this is also useful because research into rare genetic diseases can yield insight into the background of more common illnesses.

 “Right now we are working to understand how genetic variation impacts common diseases,” Laivuori says.

Collecting a database

For genes and genomes to be effectively studied, genetic data must be easily accessible. This idea is the basis of the SISu project, which compiles information about genetic variation.

 “SISu is a database of Finnish genetic variation, and it will help clinics and researchers. It will also help us understand the diagnostics of hereditary diseases, and consequently comprehend the risk profiles of common diseases," Laivuori says.

SISu is unique in that it contains genetic information from more than 10,000 Finns in one site, freely available.

All personal information is completely safe. We are incredibly careful with data protection.

 “The data are aggregated and unidentifiable. This means that all personal information is completely safe. We are incredibly careful with data protection in cases like this,” Laivuori states.

The next goal is to add the genetic information of another 10,000 Finns to the database.

Finnish been eager to volunteer for research, and they have been able to trust that the information is used to promote health.

 “Finland has benefited from the fact that our people have traditionally been eager to volunteer for research, and they have been able to trust that the information is then used to promote health. In some other countries, the situation may be quite different," Laivuori points out.

A unique stride

The data in SISu have been created through several years of close research cooperation. Even though the database is built on Finnish genetic variation, it has been a very international project, involving Swedish and American researchers, among others. The database can also be accessed from anywhere in the world.

Hannele Laiuori, SISu-projektin koordinaattori. Sisu on suomalaisten genomipankki.

“Cooperation between research groups is a wonderful example of what we can do when international research groups are open and share their data. This is a unique stride for open science,” says Laivuori.

Open data is significant, as without it, key information would not be as quickly and easily available.

 “We used to have to ask individual researchers for their databases, which made it difficult and slow to access information. Now the data could hardly be more open,” Laivuori says.

The openly accessible database will make research work significantly easier.

 “Our current research would be more challenging without databases like this one. They help us draft better prediction models to promote health and support decision-making. Our goal is to promote the health of everyone – and it is exactly these kinds of breakthroughs that SISu enables," Laivuori explains.

A step towards openness

According to Laivuori, openness is not particularly common in medical research at the moment, but the work progresses.

I hope that open science will become more popular in the future.

 “SISu is a wonderful example of openness and cooperation. I hope that open science will become more popular in the future. In fact, it is a necessary condition for the development of our field,” Laivuori states.

Laivuori believes that the trend is moving in the right direction. At the moment, openness is used as an incentive or even a requirement for funding – funders may even demand that research data is published in open databases.

 “The costs of genetic sequencing are decreasing, and there is great motivation in Finland to make shared tools. The introduction of biobanks is another interesting development in this front,” Laivuori muses.

These days there are many open databases in the world, but why is it particularly important for our health to study Finnish genes in particular?

The answer lies in our history.

As Laivuori explains, “Major international databases do exist, but the data is such that Finns cannot fully trust that they can provide figures that could be reliably applied to us due to our peculiar history and isolation. This information is very important for our health – now and in the future."

Read more:

#ThinkOpen - Innovate with open data and code articles.