Overview

Clinical Genetics is the service offered to people affected by or who may be at risk for a genetic condition, which aims at the best possible quality of life and reproduction.

At the Institute, the clinical genetics department offers diagnostic assessment, management/ treatment and genetic counselling for the whole spectrum of genetic conditions. This includes chromosomal aberration syndromes (eg Down syndrome, Williams syndrome), single gene disorders (eg achondroplasia, Marfan syndrome, neurofibromatosis), mitochondrial diseases, multifactorial conditions (eg spina bifida) and prenatal exposure syndromes. The process of genetic counselling involves not only the exchange of information relating to the genetic disorder and relevant laboratory results but also supportive counselling.

The clinical genetics team consists of a clinical geneticist and a genetic counsellor. Clinics are held both at the Institute and the Archibishop Makarios III hospital in Nicosia. Families are referred by a variety of health and other professionals as well as self-referrals.

The department serves as a reference centre for the whole of the island. A genetic registry exists which is used for epidemiological data regarding the incidence and frequency of specific genetic disorders in Cyprus.

A close collaboration exists between this department and several other departments within the Institute, the public health service and the private sector.

A major contribution of the department is the education of other professionals (eg residents, nurses, speech therapists, physiotherapists, educational physiologists) in matters involving genetics in the greater area of health and education. Also public education regarding genetics and patient's rights surrounding this subject.