NEW YORK (GenomeWeb) – The Estonian government has allocated €2.3 million ($2.6 million) to genotype at least 50,000 samples as part of the country's ongoing personalized medicine project.
The government has also pledged €5 million from the European Regional Development Fund to support the integration of genetic data into routine medical care in Estonia over the next three years.
The country commenced the Estonian Genome Project in 2000 and collected and genotyped 52,000 samples during its first phase, which are housed in a biobank at the Estonian Genome Center in Tartu. Last year, the country's Ministry of Social Affairs allocated €5 million to support the recruitment and genotyping of 100,000 more donors.
This latest wave of genotyping was carried out using Illumina's Global Screening Array. The center also compiled a reference sample for the local 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.
Lili Milani, research professor and head of the personalized medicine initiative at the Estonian Genome Center, said the effort met its target of recruiting 100,000 genome donors during 2018, relying on social media as well as a partnership with pharmacies to reach more people during the year.
While more than 100,000 people were recruited, genotyping is still underway. Milani said the Estonian Genome Center would complete genotyping on those recruited by March.
"As of yesterday, over 100,000 samples had arrived [at] our lab," she told GenomeWeb. The figure is substantial, she noted, as the Northern European country has a population of 1.3 million. That means the center will soon have genotyping data on one-tenth of the population.
"Bigger sample sizes allow us to study less common diseases," said Milani. "We can also better study how people respond to obtaining information about their genetic risk, lifestyle changes, long-term risk, and so on," she noted.
The funding received through the European Regional Development Fund will be spent on IT development to enable the reporting back of genetic information via the country's centralized electronic medical records system. Milani said that the development of this system will be managed by a national consortium involving different stakeholders.
The center has already been reporting back genetic risk for hereditary cancers back to some biobank participants, as well as relaying pharmacogenomics information. This has been undertaken to date via pilot studies. Milani said the center currently has no timeline for when it will make this data more available to the medical system, though it hopes to have something ready by the end of next year, perhaps starting with pharmacogenomics data.
Milani said it was likely the center would continue to recruit gene donors beyond 2019.
"It's not just about adding 50,000 more people to the biobank," she said, "it's about keeping recruitment going. This will probably continue in coming years as well."
The Estonian project is one of multiple initiatives across Europe to better integrate genomics into healthcare. Other efforts are underway in France, Denmark, Finland, the UK, and Switzerland, among others.