Building the case for personalised medicine in Cyprus
A major new study(opens in new window) supported by the EU-funded CY-BIOBANK(opens in new window) project has uncovered a startling reality about the health of the Cypriot population. Approximately one in every 20 people carries a genetic change that puts them at risk for serious inherited diseases, even if they are currently healthy. This finding highlights the critical importance of population-specific genomic data in shaping effective health policies.
When knowledge means life-saving power
The genetic data used for the study came from CY-BIOBANK’s state-of-the-art biobank. Since its launch in 2019, the project has been collecting and analysing biological samples and health data in this repository and using them for scientific, diagnostic and educational innovation that aspires to reshape the healthcare landscape in Cyprus and beyond. For the purposes of the study, the CY-BIOBANK team focused on 81 genes related to cancer, cardiovascular, metabolic and other diseases. By scanning the DNA of over 1 400 participants, the researchers identified 42 specific genetic variants that are considered actionable, meaning doctors can do something to prevent, treat or manage the associated disease more effectively. What makes this discovery particularly significant for Cyprus is that the genetic landscape is unique – four of these variants were not found anywhere else in the world, and 19 were much more common in Cypriots than in other populations worldwide. This suggests that thousands of people across the island may be unknowingly carrying risks for conditions that could be managed effectively if they were aware of their genetic makeup. Identifying these variants could help them take action sooner through strategies such as earlier diagnosis, regular monitoring, and personalised prevention strategies and treatments. The types of health risks identified are among the most critical facing modern society. The study found that many of these actionable variants are linked to two major categories of disease: cardiovascular problems and cancer. For example, changes in the LDLR gene can lead to dangerously high cholesterol and heart disease, while mutations in the PALB2 gene significantly increase the risk of breast cancer. Project research confirmed that 60 % of the people carrying these genetic changes were already showing signs or symptoms of the associated diseases. This high correlation proves that the genetic test results can accurately predict real-world health issues. It also highlights the need for wider genetic screening programmes and precision medicine. By focusing on the specific genetic profile of the Cypriot people, health authorities can then design screening tests that are far more accurate than generic ones. The study contributes to the ongoing efforts of CY-BIOBANK (Biobanking and the Cyprus Human Genome Project) to establish a Cypriot reference genome and to shed more light on the unique genetic features of the Cypriot population. This is part of the project’s vision to build cutting-edge biomedical research infrastructure that will contribute new knowledge for improving human health and preventing, diagnosing and treating diseases. For more information, please see: CY-BIOBANK project website(opens in new window)
