The purpose of a first consultation is usually to establish whether you and/or any partner you may have has a genetic problem. And, what risk you run of passing the condition on to any descendants.
If in the past tests have already been done and you have the results of these tests, it is crucial that you bring them to the consultation.
- Questionnaire and composition of the family tree
- Blood sampling and any physical examination
- Providing information and asking for consent
- Provisional diagnosis
The doctor will ask you a lot of questions, both about yourself and your close family. It is therefore helpful that you collect and bring as much material as possible, in other words that you collect extensive information about your family medical history.
One of the things that the doctor will do is draw up a family tree together with you. A family tree of this kind is based on your personal medical situation and that of any children. After that the closest family members are added: brothers, sisters and any children they may have. After that we look at the medical history of your parents and their sisters and brothers and any children they may have. The same applies for your grandparents’ generation. In this way the doctor tries to work out whether there is a hereditary answer to your questions. The more medical information you can provide, the more accurately the family tree can be drawn up.
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If indicated, the clinical geneticist performs a physical examination on the person who has or who could have certain symptoms, generally photos are also taken. Taking a blood sample is usually part of the programme and in certain situations it is desirable (even afterwards) to provide blood samples of family members.
During the consultation the necessary time is taken to provide information about the condition you have come for and about the possible course of the illness. If you have asked for a predictive test (for a condition about which you do not yet know whether you are a carrier) time is also taken to discuss the psychological consequences of ‘knowing’.
On the basis of all the information and the discussion you can make a well-considered decision about continuing with the tests or not. If you decide to do so, the doctor will ask you to sign a consent form in which you give express consent to have the test carried out.
Prenatal tests do of course constitute a specific situation. Here the procedure (in the pregnant woman) has generally already been planned or decided upon in the perinatal centre before you come for the consultation. Therefore it is possible that the consultation will lead to your changing your mind and coming to another decision.
In each case it is always the patient who has the last word. You can also change your decision, even after a blood sample has been taken. When the test starts, you can no longer retract.
On the basis of the collected information the doctor makes a provisional diagnosis and – if you give your written consent to this – he has the laboratory tests carried out.
Also a multidisciplinary discussion is often arranged with specialist colleagues, sometimes even during the consultation itself. From that discussion the request for additional tests may arise or you may be asked to collect even more family information. For a long time now genetic conditions do not always show a clear pattern. The more elements and specialist insight we can have, the more efficiently we can come to the right diagnosis.