Would You Give the Government Your Genome?

Estonia, a former Soviet territory nestled in the Baltic region between Latvia and Russia, has become the first nation to provide state-sponsored genetic testing and advice—to 100,000 of its 1.3 million residents. Government knowledge of citizens’ DNA architecture may sound like a scary prospect—but it’s a complicated issue.

“I think it’s an ambitious effort,” said Laura Hercher, Director of Research in Human Genetics at Sarah Lawrence College and co-founder of The DNA Exchange. “It’s a large-scale decision to provide genetic testing to healthy people.”

Old town district in Tallinn, Estonia

At one point, Hercher’s former student, Liis Leitsalu, surveyed Estonian physicians who were interested in being part of the Estonian Genome Project—an effort launched in 2000 to collect DNA samples from a quarter of the country’s population.

“Liis’s work documented an early and thoughtful attempt to include physician education from the start,” Hercher said. Estonia has since then been considered a nonpareil of progressive healthcare reform; the new government-operated genetic information service is a result of that original project.

“Estonia is a very forward-thinking country,” Hercher said. “They’ve really embraced technology. They’re [also] an extremely genetically diverse population.” Because Estonians pull from a number of different ancient lineages, any genetic datasets the government gathers are likely to be more useful than datasets collected from groups closer in ancestry.

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Gel electrophoresis, a method for separation of DNA fragments, is shown here in ultraviolet light.

Most state biobank initiatives aggregate data anonymously for medical research. This is what sets the Estonian program apart: DNA donors, in this case, elect to receive certain kinds of information about their genetic makeup.

After a participant’s DNA is analyzed for more than 600,000 DNA variants that have been linked to both common and rare diseases, she can ask to find out about the risks of breast cancer—but request not to see information about rare disorders she could transmit to future children.

“Providing genetic testing for healthy people is controversial,” Hercher said. “At present, I would estimate that 2-4% of people are going to get a medically useful piece of information from genetic testing that’s unexpected.”

At the same time, she said, “there’s a lot of potential for giving people both complicated information, hard-to-understand information, or wrong information if you give out things that we don’t know well, and that we haven’t studied not only among sick people but also among healthy people.”

The Estonian government—as well as other governments faced with the same decisions—will have to grapple with whether or not public health concerns outweigh medical advances. “Part of the argument against testing healthy people is that for everybody that you find in [good] health, how many people go use medical resources they wouldn’t otherwise use?”

For Estonia, though, the overall goal may be to simply minimize the chances of illness through widespread data collection and research. The country hopes to someday have not just a national biobank, but a Health Information System that contains the genetic data of every Estonian inhabitant.

“If we ever hope to predict [a] disease, we’ve got to find the variation [or mutation] that’s associated with it,” said Heidi Rehm, the clinical director of the Laboratory for Molecular Medicine in Cambridge, Massachusetts.

But she says that there’s still a lot of uncertainty in the process. “These arrays don’t do as well a job genotyping rare variations, where only one or two people in the set you run actually has the variant. It’s much trickier to accurately make these calls.”

Hercher noted that although most tools and platforms for genetic analysis have, for the most part, the same capabilities, it’s the interpretation step that differs both between scientists and around the world. “What do these variants mean?” she asked. “Are they benign? That is still something of an art as well as a science.”