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Estonia Invests €5M to Genotype 100K People in 2018 as Part of Personalized Medicine Project

NEW YORK (GenomeWeb) – The Estonian government announced this week that it has allocated €5 million ($5.9 million) to support the genotyping of 100,000 people in the Northern European country next year.

The Estonian Biobank, housed at the Estonian Genome Center in Tartu, currently holds 52,000 samples collected during the first phase of the Estonian Genome Project, which commenced in 2000. As part of this new phase of the project, organizers will not only collect genetic data on participants, but report back genetic risks via the country's national health information system.

The funding is "part of a greater plan of implementing personalized medicine in Estonia to prevent common diseases such as type II diabetes and cardiovascular disease," said Lili Milani, senior scientist and head of pharmacogenomics at the Estonian Genome Center.

According to Milani, the 5 million allocated this week through Estonian Ministry of Social Affairs will support the recruitment and genotyping of the new biobank participants next year. In parallel with this expansion, the Estonian Genome Center will work with the ministry as well as the Estonian National Institute for Health Development on integrating participants' genetic information into their EMRs so that physicians can use the data as "additional tools when assessing the health of patients." The NIHD is responsible for coordinating the project.

Funding for ensuing years will be determined in 2018, Milani said.

The Estonian Genome Center will use Illumina's Global Screening Array to genotype the new samples. All DNA extraction and genotyping will be done at the Estonian Genome Center's core facility, Milani noted. The center also used the GSA to genotype 35,000 samples in its repository last year.

The activity of reporting back findings from the biobank is not completely new to the center, which has already piloted the communication of genetic risk for hereditary cancers, as well as pharmacogenomics information to biobank participants. All feedback is currently combined with genetic counseling by professionally trained medical personnel.

"The amount of information that we can return depends a bit on the platform that has been used for genotyping," Milani said. "The Global Screening Array is clearly outperforming previous arrays, while whole-genome sequencing is of course providing slightly more information for the reports," she said. The center has developed a reference sample for the Estonian population, based on 2,500 whole genomes sequenced at 30x and 2,500 whole exomes sequenced at 80x in partnership with the Broad Institute and Nestlé Health, respectively.

Andres Metspalu, director of the center, said that most samples for the new study will be recruited via regular medical checkups, as well as visits to any place where blood is drawn. Additional medical information will be obtained from the electronic medical records of the participants. At later stages, they will also be asked to fill in online questionnaires regarding their health and lifestyle, he said.

The new genotyping project is one of several underway in the region. Earlier this week, Finnish researchers announced plans to genotype 500,000 participants as part of a new national personalized medicine project called FinnGen. Earlier this year, Denmark announced plans to integrate genomic data into its EMRs and establish a national genome center.

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