Outpatient clinical genetics clinic
Since 2022, a specialized Outpatient Clinic as part of the Genetics Unit is undertaken by physician with recognized Medical Genetics Specialty. The Outpatient Genetics Clinic provides clinical evaluation and investigation of children and adults with a possible or confirmed genetic diagnosis. It, additionally,organizes the follow-up (regular monitoring) of individuals with rare genetic diseases, in collaboration with various Departments and Units of the Hospital. Last but not least, the Clinic provides genetic counselling to individuals and families with rare genetic diseases, as well as women in pregnancy with a possible or confirmed genetic disease in the fetus (prenatal counseling).
Tel. Appointment at Outpatient Clinical Genetics Clinic 2313 32333333 (8 am-3 pm)
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:
- the most optimal way of dealing with the person's problems. Most genetic conditions have no "radical" cure, but many patients benefit from targeted treatment or, in some cases, from genetic therapies (e.g. in Spinal Muscular Atrophy) or participation in experimental genetic therapy studies (e.g. current study on Huntington's disease)
- appropriate check-ups to detect possible "hidden" problems, depending on the specific genetic diagnosis
- the person's prognosis
- the possibility of the same diagnosis occurring in subsequent pregnancies or pregnancies of other relatives. Depending on the case, there are various options, such as non-invasive (ffDNA) or invasive (e.g. CVS/amplification) prenatal testing, PGD (in vitro fertilization with genetic testing of embryos before implantation), etc.
- networking opportunities with other individuals and families with the same genetic diagnosis, through family support groups, facebook groups etc.
