Nicosia: The University of Cyprus' Centre of Excellence biobank.cy announced on Thursday the groundbreaking identification and recording of medically useful genetic variations within the Cypriot population. These variations are linked to the onset of genetic diseases and can significantly aid in raising awareness for disease prevention. The findings are expected to contribute to timely, personalized, and effective therapeutic interventions.
According to Cyprus News Agency, the Centre's scientific team utilized advanced computational methods to analyze genetic variations in 81 actionable genes identified by the American College of Medical Genetics. These genes are directly linked to genetic diseases that the medical community can manage, including cardiovascular diseases, hereditary cancers, metabolic, and other diseases.
Of the 1,446 individuals studied, approximately 1 in 20 carries at least one genetic variant of possible clinical significance. Additionally, 119 individuals were found to have interesting genetic changes with uncertain action. Many of these variants appear to occur more frequently or exclusively in the Cypriot population, underscoring its unique genetic characteristics.
The study, recently published in the scientific journal Genomics (Elsevier), is part of the CYPROME - Cyprus Human Genome Project. This national initiative, undertaken by the biobank.cy Center of Excellence, aims to create the first Cypriot genomic reference model. This model will facilitate an in-depth study of the genetic architecture of the population, a crucial step for designing national health policies, prevention programs, and research initiatives tailored to the local population.
Among the study's main findings, it was revealed that 5.05% of participants carry at least one medically useful genetic variant. Furthermore, an additional group of 119 individuals carry potentially exploitable genetic variants with possible clinical significance. A total of 42 medically exploitable variants were identified, with 4 unique to the Cypriot population and 19 occurring mainly in Cyprus. Most are related to cardiovascular diseases and hereditary cancers, with notable examples being the LDLR and PALB2 genes.
According to biobank.cy, approximately 60% of carriers exhibit the clinical phenotypes expected by the ACMG. The presence of population-specific and enriched variants suggests possible founder genetic phenomena, confirming the uniqueness of the Cypriot DNA's genetic structure.
The results indicate that genetic variants associated with serious but manageable conditions, such as hereditary cancer and cardiovascular disease, occur relatively frequently in Cypriots, similar to global trends. Carriers of variants in clinically significant genes may better manage their genetically inherited diseases through early detection, which can significantly improve disease outcomes via early prognosis, targeted prevention, systematic monitoring, and personalized therapeutic interventions.
In conjunction with the expertise and biomedical research infrastructure of the biobank.cy Centre of Excellence, these findings lay the groundwork for integrating scientific data into clinical practice. This integration is vital for transitioning from a uniform therapeutic approach to personalized medicine and health policymaking.
The study, which saw voluntary participation from citizens across Cyprus, was approved by the Cyprus National Bioethics Committee (EEBK/EP/2020/04). All procedures adhered strictly to the European General Data Protection Regulation. The study received funding from the European Commission, the Republic of Cyprus, and the University of Cyprus as part of the EU's Horizon 2020 program, the press release concludes.