The possibilities for analysis of the human genome are nearly endless with the utilisation of the new genome sequencing technologies. Whole-genome sequencing enables affordable and fast analysis of the entire human genome sequence, which is applicable in diagnostics of diseases as well as in the study of the normal genetic variability – the biological inheritance of the population.
Recent genomic projects have focused on the populations of the USA, Western and Northern Europe, and some populations of Africa and Asia (Kovanda, Zimani, and Peterlin, 2021). We have not yet gathered systematic genomic data using whole-genome sequencing for the Slovenian population.
Information about the genetic diversity of a population is a prerequisite for the integration of genome medicine in Slovenian healthcare. The database of the normal population variability will facilitate better diagnostics of rare diseases, due to easier differentiation between normal and pathological variability. Genomic medicine will also facilitate the discovery of new genes and mechanisms of genetic diseases and the development of predictive models for common polygenic diseases, such as cardiovascular diseases, diabetes, cancer and other diseases.
Understanding of common pathological variants in a population is the basis for the development of screening programs, such as preconception genomic screening, screening for severe childhood genetic diseases in newborns, and predictive screening for severe genetic diseases in adulthood, which can be prevented with early diagnosis.
Slovene Genome Project will accelerate the understanding of epidemics of genetic diseases in Slovenia. We will standardise the transfer and gathering of data between Slovenian institutions (FAIR principles) and expedite the collaboration with European genome initiatives, including the “1+ million genomes” initiative.