The Estonian Biobank has established a population-based biobank of Estonia with about 200,000 individuals donors. Considering the fact that about 20 percent of Estonia's adult population has joined the program, it is an important database for the development of medical science both domestically and internationally.

About 5,000 donors have received information from the biobank about their hereditary risks.

ERR asked Mait Metspalu, director of the institute of genomics, why the biobank has not provided information to the majority of donors.

"First of all, science has not been that far advanced," he went on to say. "Legal difficulties, as well as the building of IT infrastructure, are quite more complex and time-consuming than we anticipated. We must also apologize to the gene donors for being overly hopeful about how long it would take us to complete this task," Metspalu said.

As nearly three-quarters of gene donors contributed their data in 2018 and 2019, the gene bank did not have time to analyze and transfer it to people, he said.

Metspalu explained that this had thus far been done one-by-one via email.

He said that if all goes well and the pilot version of the portal is up and running, the system will eventually provide the hereditary disease risks and genetic ancestry of all gene donors in Estonia.

The genetic material of all Estonian Biobank participants has been genotyped using Illumina GSA microchip, which contains more than 700,000 SNP markers and includes specific variants of the Estonian population that allow an analysis of gene variants in the genome.

This data helps to explain why people have different disease risks and why medicines affect them differently. This information can be the basis for the application of personalized medicine in Estonia.

"Another important aspect is that we will look at the portal to see how people react to the feedback. Do they, for example, change their health behaviors as a result of learning more about the risks?" Metspalu said.

Metspalu said it is critical to consider how and in what context they offer genetic feedback to the gene donor, which could be further researched and treated, for example, by family doctors, oncologists or medical geneticists if needed.

"If I tell a person they have 10 times the risk of the typical person, I should also mention that the average person's risk is 0.00001, therefore 10 times the risk is still only 0.0001," Metspalu said. "So one way to say the same thing could be more scarier than the other."

The system cannot be launched right now due to a legal discussion with the health authority over whether and how the medical devices rule applies to the portal. However, Metspalu said they are not disagreeing with the agency but working out what is right.

According to Piret Põikliklik, chief of the medical devices department of the national health agency, an agreement might be reached within weeks to months.

"If the planned product turns out to be a medical device, there is one EU rule that applies that lays out very stringent conditions that must be completed before such a thing may be placed into operation," Põiklik said. "If it is not a medical equipment, you are exempt from these strict requirements."

The genetics and personalized medicine center at the University of Tartu Hospital is run by Sander Pajusalu. He said that similar programs in other countries are facing the same issues.

"Genetics is a very fast-moving field," he said. "When it comes to things that could be used, it is ahead of its time. There are a lot more things that could be put to use, which are also proven to help people," Pajusalu said.

All activities at the Estonian Biobank are conducted according to the Estonian Human Genes Research Act (HGRA). All participants have signed a broad consent form allowing researchers to use their health and genomics data for various studies upon approval by the Estonian Committee on Bioethics and Human Research. 

The HGRA, together with the broad informed consent, allows obtaining participants' information on health status, prescribed medicines and causes of death from national registries and hospital databases and implementing it in a broad spectrum of studies without re-consent.

Researchers from the Estonian Genome Center at the University of Tartu alone have published over 830 research papers in peer-reviewed journals based on data from the Estonian biobank.

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