Genetic counseling is the process by which information is provided to patients or persons at risk of genetic disease related to the clinical picture of the disease, its course, therapies, the risk of recurrence or transmission, and the means of prevention. It concerns not only patients but also members of a family with a genetic disease.
The aim of genetic counselling is:
- Informing those people concerned about the nature, clinical picture and prognosis of a mental or physical disability disease
- Understanding the risks of recurrence of the same disease within the family and finally
- Information on all offered options for prevention and treatment.
Through this process – which often has to be repeated from time to time – the family concerned is psychologically supported and facilitated in choosing any decision.
A person or family may have different questions about possible genetic or hereditary diseases. So the genetic counseling service responds to the questions of each case. It can be divided into three main categories listed below.
Paediatric Counselling
It concerns children, infants, infants who have:
- Dysmorphic syndrome e.g. Down, Turner, Klinefelter (karyotype explanation, risk of repetition)
- Congenital abnormalities e.g. spina bifida, rabbit, pyloric stenosis (risk assessment for the family)
- Metabolic disease e.g. phenylketonuria (prognosis, dietary treatment, control of vectors, risk of repetition)
- Hereditary monogenic syndrome e.g. α and β thalassaemia, sickle cell anemia, cystic fibrosis, achondroplasia, neurofibromatosis, haemophilia, deafness (explanation of heredity)
- Multifactorial diseases e.g. diabetes, coronary heart disease, familial hypercholesterolemia, schizophrenia (genetic risk assessment and laboratory testing)
- Neurological diseases e.g. Huntington’s disease, fragile X syndrome, muscular dystrophy (screening, benefits, effects)
- Malignant familial diseases e.g. breast cancer, colon (risks, monitoring capabilities)
- Bioethics, ethics issues, legislation in Greece and psychological support
It concernes families/couples:
- Before prenatal or pre-implantation screening or diagnostic tests (information on signs, risks, more appropriate time to check)
- After prenatal testing, e.g. pathological outcome Trisomy 18 (disease characteristics, outcome, psychological support)
- Infertility or miscarriage or affinity between a couple (reproductive prospects, genetic risks, pre-programmed pregnancy diagnosis)
- Genetic tests and interpretation of results e.g. karyotype, thrombophilia, cystic fibrosis, etc.
At a meeting with the genetic counselor you are initially discussing the questions and concerns that may concern you. If there is a specific diagnosis, biopsies or related examinations, it will take time to study them. An analysis of your family medical history and design of your family tree will be made in relation to the information you will give us.
At a next appointment, after having studied the information gathered, we will discuss the chances we will have assessed and estimate that you or some other family member may have a health problem related to the disease that has been discussed. We will also discuss any questions that may arise and the choices offered so that you are fully informed about the situation you are concerned with. If you need further meetings along the way, we will be at your disposal to organize them.
