Genetic counselling can involve several different steps and appointments. This is the regulatory protocol practised in all genetic centres.
The different steps:
1st step: The medical team (doctor, genetic counsellor and psychologist) explains the illness, the test methodology and the consequences of this test for the patient and their family so that everything is as clear as possible. Patients and family can then ask as many questions as needed.
2nd step: Once the team has provided the necessary information, the patient must make a decision. They are given time to think this over. Only the patient can decide whether they will benefit from this test or not. They will also need to provide written confirmation that they have received all the necessary information to make this decision. The test will consist of a blood test. DNA will be extracted from the blood sample and analysed by the genetic laboratory to locate the familial mutation which causes amyloidosis.
3rd step: The analysis may take several weeks. The results will be sent to the doctor that has prescribed the test and, if requested, to the assigned doctor at Henri Mondor Hospital. This doctor will go over the results in a consultation with the patient. It is the patient’s right to decide whether they wish to acknowledge this result.
A genetic test for an asymptomatic patient must be prescribed during an individual consultation by a doctor working in a multidisciplinary team that deals with asymptomatic patients. Both the multidisciplinary team and the care protocol are declared by the Biomedical Agency.