Genetic

The genetics department is a university hospital service that meets the needs of the population of Normandy, for which it is one of the regional resources. It is a partner of the Rouen-Caen University Hospital Federation “personalized medicine”.

• The consultation : The clinical genetics team will see symptomatic or asymptomatic patients for diagnostic or genetic counseling purposes. These patients are referred either by doctors due to a suspected genetic disorder, or by their relatives when a genetic disease is known to run in the family.

Genetic consultations aim to diagnose genetic diseases and provide genetic counseling, that is, to inform patients about the nature of their disease, its consequences, the likelihood of developing or transmitting it, and ways to prevent or treat it. In certain circumstances, investigations may be extended to other family members to inform affected relatives, detect undiagnosed affected relatives, or identify healthy carriers.

The clinical genetics service therefore conducts consultations:

• Postnatal diagnosis: intellectual disability, autism, cardiogenetics, neurogenetics, ophthalmogenetics, malformation syndrome, mitochondrial diseases, etc.
• Prenatal diagnosis
• Genetic counseling (consultations for relatives)
• Monitoring patients with rare genetic diseases

Multidisciplinary: Marfan syndrome, Rendu-Osler-Weber disease, etc.

You must send us your request by mail or email to the secretariat with:

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

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

The geneticist or genetic counselor you will meet needs precise information about your personal and family history. Therefore, be sure to bring the following documents to your appointment:

• Administrative documents (national identity card, health insurance card, supplementary health insurance card, family record book for minor children…),
• Medical documents (health record, x-rays, letters, elements of medical files, biological reports…).

If any family members have or have had difficulties (disability, intellectual impairment, learning difficulties, cancer, malformation, heart disease, or other illness), please try to find out the name of the disease and any test results (ideally the name/surname/date of birth of the affected patient, the name of the center and the name of the doctor who is treating him/her).

Various situations may lead you to consult a geneticist. You will be seen by a doctor from the team accompanied by a medical student or a genetic counselor.

For children and pregnant women, the presence of both parents is recommended. The consultation can be conducted jointly 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 drawn up with you, including the medical history of your relatives (parents, siblings, children, uncles, aunts, cousins ​​and grandparents).

A medical examination may be carried out.

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

Genetic testing may be offered during your consultation. These tests will be explained to you, and if you agree to them, you will be asked to sign a consent form necessary for them to be carried out.

The tests are performed using a blood sample, for which fasting is not required, and which will be taken immediately after the consultation. Further assessments, including additional tests (X-rays, blood work, etc.), may be recommended.
A letter will be sent to you and to the various healthcare professionals involved in your care, as requested.
Obtaining test results can take several months. As soon as we receive them, you will be notified, and a follow-up appointment can be scheduled.

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

Please do not hesitate to contact us if you require any further information:
02 31 27 25 69