Estonia’s Biobank shows what you can unlock, when you unlock data

5 min read

One of the things that sets Estonia’s tech ecosystem apart is its government’s extensive investment in digital infrastructure on which a host of services can be delivered, e.g.

• Digital Identity, which allows for online self-identification, digital signatures, and remote access to government services; 
• Digital Health Records, which gives patients, doctors, and researchers easy access to critical medical information;
• X-Road, which enables secure data exchange between the country’s public (and private) organizations.

A less-well-publicised but equally impressive example of such foundation-building is the Estonian Biobank.

Part of the Institute of Genomics at Tartu University, the Biobank is a biological database containing the genetic information of (currently) 200,000 Estonians—over 20% of the adult population! This breadth, and its connection (via X-Road) to the country’s digital health records, makes it one of the world’s most valuable tools for genetic research. Tõnu Esko, the Genome Center’s Vice Director and Chief Business Development Officer, emphasizes this point:

“What is unique here is that you can use this or that digital framework to actually get updates from the health databases, and essentially what it creates is a longitudinal data stream.“

This means, for example, that researchers undertaking a clinical trial of a new drug can analyze results against their subjects’ genetic information as well as their entire medical history, and, if need be, keep tracking changes in their health for years into the future.

Unsurprisingly, the Biobank is helping turn Tartu into a beacon for pharma companies, medical R&D centres, and world-class scientists, but it is also stimulating the creation of startups in non-medical fields. For example, Tõnu describes a massive opportunity for “certified algorithms that can interpret genomes.” Such algorithms could be put to use developing risk scores for people predisposed to certain conditions or even identifying ways to improve screening programs for things like breast or prostate cancer. To encourage growth in this space, Tõnu also speaks of setting-up a “data accelerator,” for startups who could not hope to generate or access this quality and volume of data on their own.

Powerful though all this may be for researchers and companies, granting third-party access to such data naturally prompts questions about privacy. One commonly voiced concern is that insurance companies might use genetic information against their customers, such as by increasing premiums for those considered at higher risk of developing a particular disease. But Tõnu flips this idea on its head:

“The aim of health insurance is actually to keep their customers as long as possible, as healthy as possible. This is the cheapest. This is how they generate profit. If you know that [a beneficiary] is at high-risk, and there is some kind of program to follow that would reduce this risk… take some kind of medicine, or keep your weight within a certain range… then your health insurance could actually get cheaper.“

Other concerns – about how employers might treat this data, or how far potential parents (or governments) should go to prevent the transmission of genes linked to horrible diseases to another generation – are perhaps even more daunting.

It helps that Estonia has had laws regulating access to and the use of genetic data since 2000—a full decade before most other countries even started talking about data privacy. Informed consent is at the heart of these laws, however, once such consent is given, the permitted uses of personal data are actually quite broad. This runs counter to other countries’ regulations, where data gathering and use is often strictly limited to specific, pre-identified purposes, but for Tõnu, this freedom is absolutely critical. 

While you might expect this viewpoint from a man who has devoted his adult life to research (and with over 300 published articles and 75,000 citations, Tõnu is among the most highly-respected scientists in the field), the truth is that Estonians in general seem pretty relaxed about sharing their data. (We’ll come back to this in a separate article in the next few weeks.) This may be because Estonians broadly trust their government and have had – perhaps more than any other country’s citizens – quite some experience with the positive trade-offs between privacy and, for example, transparency.

In this case, transparency means that all Estonians who provide genetic data to the Biobank are – by law – guaranteed access to the resulting information. And, as Tõnu emphasizes, “it’s not just that you log-in somewhere and get a PDF you don’t understand, but actually the law and ‘informed consent’ requires that it be in a kind of counselled way,” to minimize the risks of misunderstanding.

Indeed, the benefits of sharing data with the Biobank go further still. According to Tõnu, 98% of Estonians have at least one genetic mutation that affects their body’s metabolism of some drugs. With this kind of information in a patient’s digital health record, doctors could make better and safer decisions about which medicines to prescribe and in what does. This isn’t “the world of tomorrow;” in Estonia, this is happening now.

“We’re actually trying to get the genetics into healthcare, and not just for better diagnostics… If you have just one bad mutation, you may have 20 times the risk of having an early heart attack, or breast cancer. Almost none of these mutations are regularly screened for…but something between 5 to 7 percent of the population carries them.

We have two pilots going on: one for breast cancer and one for cardiovascular disease. Breast cancer for example – if you are in the very top high genetic risk group, regardless of your age or family history, you are invited back to see an oncologist, you get free counselling, you get a free mammography, and then repeated visits. Usually, how it works is that mammography is free between 50 and 65, and if you want to get it earlier, you have to pay for it… In our case, everybody [who needs it] gets it.“

This may explain why, in just 3 months, over 75,000 Estonians volunteered to provide their genetic data, with some waiting over 3 hours in line at a local pharmacy. Tõnu’s objective for the Biobank is clear: “My aim is to get everyone genetically profiled in the next 10 years.” 

With this kind of enthusiasm from his compatriots, that objective is well within reach.