The University of Cyprus’ Centre of Excellence biobank.cy announced on Thursday the identification and recording for the first time of medically useful genetic variations in the Cypriot population, which are proven to be linked to the onset of genetic diseases and can essentially be used as a means of raising awareness for disease prevention, while also contributing to timely, personalised, and effective therapeutic interventions.
As stated, the Centre’s scientific team used advanced computational methods to analyse genetic variations in 81 genes identified by the American College of Medical Genetics as directly linked to genetic diseases that the medical community can manage (actionable genes), such as cardiovascular diseases, hereditary cancers, metabolic and other diseases.
According to the press release, of the 1,446 individuals studied, approximately 1 in 20 carries at least one genetic variant of possible clinical significance, while in another 119 individuals, interesting genetic changes with uncertain action were identified, with many of these variants appearing to occur more frequently or exclusively in the Cypriot population, highlighting its unique genetic characteristics.
It is noted that the study, recently published in the scientific journal Genomics (Elsevier), is part of CYPROME – Cyprus Human Genome Project, a national initiative carried out by the biobank.cy Center of Excellence for the accurate genomic mapping of the Cypriot population, whose ultimate goal is to create the first Cypriot genomic reference model that will allow for an in-depth study of the genetic architecture of the population, a project of crucial importance for the design of national health policies, prevention programmes, and research initiatives tailored to the needs of the population.
Among the main findings of the study of 1,446 individuals, it is stated that 5.05% of participants carry at least one medically useful genetic variant, while an additional group of 119 individuals carry potentially exploitable genetic variants with possible clinical significance.
It is added that a total of 42 medically exploitable variants were identified, of which 4 are unique to the Cypriot population, while 19 occur mainly in Cyprus, with most related to cardiovascular diseases and hereditary cancers, with characteristic examples being the LDLR and PALB2 genes.
According to biobank.cy approximately 60% of carriers report the clinical phenotypes expected by the ACMG, with the existence of population-specific and enriched variants indicating possible founder genetic phenomena, confirming the uniqueness of the genetic structure of Cypriot DNA.
“The results show that genetic variants associated with serious but manageable conditions, such as hereditary cancer and cardiovascular disease, occur relatively frequently in Cypriots, as they do globally. Consequently, carriers of variants in clinically significant genes may be able to better manage their genetically inherited diseases,” it says.
Thus, it notes, “the early detection of such variants can significantly improve the outcome/progression of the disease through early prognosis, targeted prevention, systematic monitoring, and personalised therapeutic interventions.”
It is further added that, in combination with the expertise and biomedical research infrastructure of the biobank.cy Centre of Excellence, the findings lay the foundations for the integration of scientific data into clinical practice, reinforcing the transition from a uniform therapeutic approach to personalized medicine, but also to health policymaking as a whole.
This study, in which citizens from all over Cyprus participated voluntarily, was approved by the Cyprus National Bioethics Committee (EEBK/EP/2020/04), while all procedures are strictly compliant with the European General Data Protection Regulation, with funding from the European Commission, the Republic of Cyprus, and the University of Cyprus, as part of the EU’s Horizon 2020 programme, the press release concludes.