Genetic

The genetics service is a university hospital service which meets the needs of the population of Normandy for which it constitutes one of the regional resources. It is a partner of the Federation Hospitalo-Universitaire Rouen Caen “personalized medicine”.

• The consultation : The clinical genetics team will receive symptomatic or asymptomatic patients for the purpose of diagnosis or genetic counseling. These patients are either referred by doctors because of a suspicion of genetic pathology, or by their relatives when a genetic disease is known in the family.

Genetics consultations are intended for the diagnosis of genetic diseases and genetic counseling, i.e. informing patients about the nature of their disease, its consequences, the likelihood of developing or transmitting it, the means of prevent or cure it. In certain circumstances, the investigations may extend to other family members in order to inform affected relatives, to detect undiagnosed affected relatives, or to screen for healthy carriers.

The clinical genetics department therefore carries out consultations:

• Postnatal diagnosis: intellectual disability, autism, cardiogenetics, neurogenetics, ophthalmogenetics, malformation syndrome, mitochondrial diseases, etc.
• Prenatal diagnosis
• Genetic counseling (relative consultations)
• Follow-up of patients with rare genetic diseases

Multidisciplinary: Marfan syndrome, Rendu Osler disease, etc.

You must send us your request by post or by email @secretariat with:

• the addressing letter from the attending physician or specialist,
• more or less the results of genetic analyzes already carried out on your relatives.

We also need to know your contact details in order to contact you ( Name, First name, date and place of birth, email and postal address, mobile phone number ).

The geneticist or genetic counselor you are going to meet needs accurate information about your personal and family history. Also, make sure you come to your consultation with the following documents:

• Administrative documents (national identity card, vital card, mutual insurance card, family booklet for minor children, etc.),
• Medical documents (health record, X-rays, letters, elements of medical records, biological assessments, etc.).

If some members of the family present or have presented difficulties (handicap, intellectual disability, school difficulties, cancer, malformation, cardiac pathology, or other disease), please try to find out about the name of the disease and the possible results. analyzes (at best the surname/first name/date of birth of the affected patient, the name of the center and the name of the doctor treating him).

Different situations can lead you to consult in genetics. You will be welcomed by a doctor from the team accompanied by a medical student or a genetic counsellor.

For children and in a situation of pregnancy, the presence of both parents is desirable . The consultation can take place in pairs with the psychologist and lasts approximately one hour.

We will ask you for information about your medical and family history. A family tree will be made with you, taking up the background of your relatives (parents, siblings, children, uncles, aunts, cousins ​​and grandparents) .

A medical examination may be carried out.

We may ask you for written permission to take photographs. In some cases, photographs are an essential tool in the medical file. They are confidential and will be kept in your medical file of the genetics department only.

Genetic tests may be offered to you during the consultation. These examinations will be explained to you, and if you accept them, you will be asked to sign a consent necessary for them to be carried out.

The examinations are carried out from a blood test for which it is not necessary to be on an empty stomach, and which will be carried out immediately after the consultation.
An additional check-up including other examinations (x-rays, blood test, etc.) may be offered. A letter will be sent to you and to the various correspondents involved in your care, according to your request.
Obtaining test results can take several months. As soon as we receive them, you will be notified and a summary consultation may be offered to you.

A space for talking, listening and psychological support is also available. A meeting with the psychologist is possible, for yourself or for your loved ones, at any time.

Do not hesitate to contact us if you would like further details:
02 31 27 25 69