Outpatient Clinical Genetics Clinic

Outpatient clinical genetics clinic

Στο Ιατρείο Κλινικής Γενετικής διενεργείται diagnostic approach in children and adults with a possible or confirmed genetic diagnosis. It is carried out follow-up (regular monitoring) people with rare genetic diseases, in collaboration with Clinics and Units of the Hospital. Provided genetic counselling/guidance at individuals and families people with rare genetic diseases, as well as in couples in pregnancy with a possible or confirmed genetic disease in the foetus (prenatal counselling).

Tel. Appointment at Outpatient Clinical Genetics Clinic 2313 32333333 (8 πμ-3 μμ) και 14741

Which patients can be referred to the Clinical Genetics Unit?

Clinical Genetics is addressed to:

- infants or children with a genetic syndrome or any genetic diagnosis

- infants or children with a combination of findings from different systems, such as developmental delay, mental retardation, autism, heart disease, kidney disease, abnormal findings on brain MRI, eye disorders, etc., that have a possible unifying genetic cause

- infants or children with neurological conditions that have a possible genetic cause

- infants or children with skeletal malformations/dysplasias

- infants or children with rare or more than one different malignancies (cancer)

- couples in pregnancy, when ultrasound or other findings indicate a possible genetic diagnosis in the fetus

- couples in pregnancy, when prenatal genetic testing (e.g. amniocentesis) has revealed a genetic diagnosis in the fetus

- couples with a history of intrauterine death or birth of a stillborn child, which may be attributed to a genetic cause

- people with genetic diseases of connective tissue, e.g. Marfan syndrome, Ehlers Danlos, etc.

- people with personal or family history of eye diseases that have a possible genetic cause, e.g. hereditary retinopathy

- people with personal or family history of neurological conditions that have a possible genetic cause, e.g. early onset dementia, n. Huntington's disease, CADASIL etc.

- people with personal or family history of hypertrophic/intermittent cardiomyopathy, long QT, etc.

- people with significant family history of malignancies (cancer) in multiple family members

What is the role of the Clinical Geneticist?

The role of the Clinical Geneticist includes:

- the diagnostic approach to individuals (or pregnancies) with an undiagnosed genetic disease. Depending on the findings, the Clinical Geneticist recommends the optimal genetic testing. When complex genetic tests are undertaken (e.g. exome sequencing), the Clinical Geneticist is involved in the analysis and interpretation of the patient's genetic data

- the interpretation and explanation of genetic test results to individuals and their families

- the recommendation of other medical tests if deemed necessary, after the genetic diagnosis has been made (e.g. cardiac testing in a child with a genetic "neurological" syndrome causing "hidden" heart disease)

- Counselling to the individual and his/her family after the genetic diagnosis has been made. The counselling includes - among other things - information about the prognosis, possible future problems, options in relation to future pregnancies, etc.

- recommending genetic testing to other family members if appropriate

- Counselling to couples in pregnancy so they can make informed choices regarding the outcome of the pregnancy

Why is genetic diagnosis important?

Genetic diagnosis allows the individual and their family to obtain information in relation to:

- την ιδανικότερη αντιμετώπιση των προβλημάτων του ατόμου. Οι περισσότερες γενετικές παθήσεις δεν έχουν "ριζική" θεραπεία, αλλά αρκετοί ασθενείς ωφελούνται από στοχευμένα μέτρα αντιμετώπισης ή, σπάνια, από γενετικές θεραπείες (πχ σε Νωτιαία Μυϊκή Ατροφία) ή συμμετοχή σε πειραματικές μελέτες γενετικής θεραπείας (πχ τρέχουσα μελέτη για αντιμετώπιση της ν. Huntington)

- appropriate check-ups to detect possible "hidden" problems, depending on the specific genetic diagnosis

- the person's prognosis

- τις πιθανότητες εμφάνισης της ίδιας διάγνωσης σε επόμενες κυήσεις των γονιών ή σε μελλοντικούς απογόνους του ίδιου του ατόμου και άλλων συγγενών. Ανάλογα με την περίπτωση, υπάρχουν διάφορες επιλογές, όπως μη επεμβατικός (ffDNA) ή επεμβατικός (πχ CVS/αμνιοπαρακέντηση) προγεννητικός έλεγχος, προεμφυτευτικός έλεγχος (εξωσωματική γονιμοποίηση με γενετικό έλεγχο των εμβρύων πριν τη γονιμοποίηση) κλπ

- networking opportunities with other individuals and families with the same genetic diagnosis, through family support groups, facebook groups etc.