Overview

Clinical genetics is a specialized branch of medicine focused on the diagnosis, management and genetic counselling of patients, and their families, affected by conditions with known or suspected genetic aetiologies.

The Department of Clinical Genetics and Genomics serves as a national expert reference center, offering specialized diagnostic and genetic counselling services to individuals and families affected by genetic disorders across the entire island. Currently, our team consists of a consultant clinical geneticist, three genetic counsellors, a clinical secretary, an associate scientist, a PhD candidate and other postgraduate students working on various research projects. Adhering to a patient-centered approach, we collaborate closely with experts in genetics and other medical and scientific disciplines both within Cyprus and internationally. Additionally, we organize initiatives aimed at raising public awareness of rare genetic disorders to enhance support for affected individuals and their families. We are also committed to increasing recognition of clinical genetics and genetic counselling to facilitate improved access to specialized healthcare services for patients and families.

Our Department is dedicated to advancing the identification of genetic aetiologies and expanding knowledge regarding the prevalence of genetic conditions within Cyprus. One of our main goals is the development and maintenance of national electronic registries. One such initiative, the CENSUS project, involved a multidisciplinary collaboration to gather health and sociodemographic data from individuals with congenital anomalies in Cyprus. This project provided valuable experience and served as a foundation for the creation and upkeep of new registries, alongside the maintenance of existing ones.

Our department contributes significantly to the growing body of scientific knowledge in the field by publishing in peer-reviewed journals and engaging in collaborative research with international expert networks. In 2017, we were officially recognized as a member of the European Reference Network ERN-ITHACA, becoming Cyprus's designated expert center for rare malformation syndromes, intellectual disabilities, and neurodevelopmental disorders. This ERN connects experts from 25 European Union member states, providing a collaborative framework for diagnosis, evidence-based management, and cross-border research initiatives.