While much of Europe is focused on the European Football Championships, many Estonians, whose team did not qualify, are captivated by their own genetic discoveries.
This month, 210,000 Estonians, representing about 20% of the adult population, who have contributed samples to the national biobank, were granted access to their genetic traits. These insights include disease risks, ancestry markers, and even how their bodies handle caffeine. The online portal received such high traffic that it crashed shortly after launch. “Genetic literacy in the Estonian population is maybe higher than elsewhere,” says Lili Milani, head of the Estonian Biobank and a pharmacogenomicist at the University of Tartu. “The interest is really high.”
The Estonian initiative is among the world’s largest efforts to return genetic results to research participants, a practice not common among most biobanks. Scientists argue that sharing results acknowledges the valuable contribution of participants. “People have donated their data for this research, and they want something back,” says Andrea Ganna, a statistical geneticist at the University of Helsinki. “It’s a no-brainer. We need to do it and participants want it.”
Returning Genetic Results
The Estonian Biobank, established by a 2000 law, allows participants access to their genetic data. Initially, specialists counseled participants with high genetic risks for conditions like breast cancer and cardiovascular disease or with rare gene variants affecting drug metabolism. However, this approach reached only 5,000 participants. “We cannot do face-to-face consultations for 200,000 people,” says Milani.
The biobank’s online portal provides limited but actionable insights, focusing on health improvements. Participants receive information on cardiovascular disease and type 2 diabetes risk, along with lifestyle advice to mitigate these risks. “Genetic risk alone doesn’t tell you much. You need to put this in the context of your lifestyle,” Milani explains. The portal also reveals genetic influences on medication metabolism and other substances. Milani discovered she carries a gene variant that slows caffeine breakdown, amplifying its effects. “I had one coffee yesterday and couldn’t sleep. It’s been a bit hectic with the launch of the portal,” she notes.
More than 75,000 biobank participants have already visited the portal, demonstrating high interest. Milani and her colleagues plan to study the health impacts by comparing participants who access the portal with those who don’t.
A Growing Trend in Genetic Counseling
The Estonian Biobank data release aligns with a broader trend in population health studies. The US-government-funded All of Us study, which aims to gather genome and health data from over a million people, has communicated genetic results to more than 100,000 participants. The study focuses on 59 genes linked to treatable or preventable diseases, providing genetic counseling to the 3% of participants with these mutations.
“To be able to show results to participants, All of Us had to navigate several regulatory challenges,” says Heidi Rehm, a clinical genomicist at Massachusetts General Hospital. Similarly, the Estonian program underwent two years of ethics review.
Funding remains a challenge, with tasks like contacting participants potentially costing hundreds of thousands of euros. Despite these hurdles, the process of returning genetic results is ongoing. “You’re never at the end of this voyage,” says Dan Roden, a cardiologist at Vanderbilt University. “I admire the Estonians, and I think it is a wonderful experiment, a wonderful way of moving genome science forward.”
