Slovenian genome project

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

The project is anticipated to have a widespread impact in human medicine and research.  Understanding the population variability is essential in discrimation of pathogenic versus benign genetic variants in diagnosis of patients with rare genetic diseases. Thus, establishment of a genome-wide reference set of population variability is essential in enabling whole genome sequencing as a diagnostic tool in patients.  Along the same lines, this knowledge consequently also improves identification of novel disease genes and mechanisms.

We anticipate several beneficial economic effects of this project.  Firstly, we expect that this project will lead to improved efficiency of the national health system, particularly due to improved diagnosis of patients with rare genetic conditions, better understanding of pathogenic variability in Slovenia and through novel possibilities of disease prediction and prevention (for example with preconception genetic testing).  Clinical Institute of Medical genetics is for several years the key provider of genomic testing for regional and European national health systems, private institutions and individuals with rare diseases. More than 10% of total income of the institute present international diagnostic services. We expect that the SGP will contribute to increased competitiveness of project partners. Genetic diagnosis is crucial for personalized prevention of disease and development of novel gene therapies. We expect that better understanding of pathological and normal genomic variation might contribute to the development of novel medical products.