OI Ljubljana

Slovenian genome project


  • ARRS code: V3-1911
  • TITLE: Slovenian genome project
  • PROJECT LEADER: Assoc. Prof. Borut Peterlin
  • DURATION: 1.11.2019 – 31.10.2022
  • APPLICANT RESEARCH ORGANISATION: University Medical Centre Ljubljana
  • PARTICIPATING RESEARCH ORGANISATIONS: Institute of Oncology Ljubljana, University of Ljubljana, Faculty of Medicine, Blood Transfusion Centre of Slovenia
  • FINANCING: Slovenian Research Agency,


The main goal of the Slovenian Genome Project (SGP) is to improve the diagnosis and prevention of rare diseases through the implementation of genome sequencing and to lay the foundation for a personalized genome approach to predicting, preventing and improving the treatment of common multifactorial and cancer diseases. We have designed an innovative approach that will systematically analyze the best practices of the best international national genomic initiatives and upgrade them with innovative, tailor-made solutions for Slovenian health and research environments.

To this end, we will develop a network of key health and scientific institutions and include Slovene infrastructure technology centers, health and scientific policy makers (Ministry of Health and Ministry of Education, Science and Sport), lawyers and experts for medical ethics and patient representatives. Representatives of key stakeholders will be associated with corresponding working group that will formulate the content and time design of the Slovenian genomic project.

Within the framework of the SGP, we will combine the key activities needed for success of this complex project:

We will develop an innovative bioinformatics platform, in which we will include genomic data from the Slovenian population. This platform will originally offer an anonymized approach to the Slovenian professional and research public, and at the same time it will be the central Slovenian genomic node, which will allow connections with international initiatives and partners.

Because there is no legal regulation in the field of genomic medicine in Slovenia and there are no specific ethical policies and documents, we will prepare two strategic documents - a document dealing with ethical aspects and a document addressing legal issues in the field of genomic medicine. We will reach this goal in cooperation with domestic and foreign experts in the legal and ethical field. The documents will address individual privacy issues, the exchange of genomic data, the reporting of secondary findings and these deliveries will ensure harmonization of the objectives of the SGP with Slovenian legislation.

The efficient and responsible transfer of new technologies to medicine requires the appropriate knowledge of health personnel and awareness of the general population - potential users of new technologies and diagnostic options. Therefore, we will prepare multimedia educational content to improve the awareness of the lay public about the impact of genomics on health and science. We will also prepare separate materials for educating health professionals in order to enable the efficient and responsible transfer of new genomic technologies into clinical practice. We will inform healthcare professionals and the lay public about the progress of the SGP and invite them to actively discuss the project with the organization of the "National genome day".

New genomic data of the Slovenian population will be generated through a pilot project in which we will sequence the entire genome of 300 people with rare and cancerous diseases and healthy subjects. In the framework of the pilot project, we will evaluate the additional clinical diagnostic value of the entire genome sequencing in patients with rare diseases in which the current genetic diagnostics was unsuccessful. In accordance with our previous work through which we have already discovered 7 novel genes related to human diseases, and thus contributed to the understanding of mechanisms of human disease, we expect that by systematically using the sequencing of the entire genome, we will have the opportunity to discover new scientific discoveries. We will also obtain data on normal genomic variability in the Slovene population, thus setting the basis for a polygenic risk assessment approach that we can use for various multifactorial human diseases. In the framework of the pilot project, we will also analyze the entire genome of selected tumor tissue samples, thereby.



© 2019 - Institute of Oncology Ljubljana
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