Genetic counselling takes into account the individual situation and needs of the patient and includes a detailed recording of the family history with a complete pedigree of 3 generations, including the illnesses and age of the family members at diagnosis.

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Clinical geneticists evaluate whether a genetic risk exists in the family based on the family history and medical reports. They discuss with the patient whether there is a risk, and if so, which possibilities of genetic testing exist, and what the potential diagnoses mean with regard to e.g. therapy, prevention, or having a child.

Genetic counseling does not always result in a diagnostic genetic test, but gives the patient sufficient information to make an informed decision. Therefore, consultations can take up to an hour or two, or even longer. Sometimes it is also possible to have several consultations, or it is necessary to refer the patient to other specialists for further clarification.

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Human genetics counselling procedure