In brief

Genetic testing can now be offered at various stages of the treatment process. Outside pregnancy, certain genetic tests can identify a disease of hereditary origin or a risk of transmission. During pregnancy, prenatal diagnosis may be proposed to detect an anomaly in the embryo or fetus, particularly in the case of a family history or an anomaly detected on ultrasound. In certain highly regulated situations, pre-implantation diagnosis can be used during in vitro fertilization to identify a known genetic disease in a couple or in a woman, before the embryo is transferred to the uterus. Only embryos that do not carry the anomaly can then be transferred or preserved for a future parental project. These examinations are carried out with a view to prevention, diagnosis or treatment, for the benefit of those concerned.

Genetic tests carried out before or during pregnancy are strictly regulated by bioethics laws. They can only be proposed in specific medical situations, on the advice of a healthcare professional. Prenatal diagnosis is organized around multidisciplinary centers that assess complex situations, support patients and guide their care. In the event of an identified risk, they can certify the seriousness of a condition and, if necessary and under certain conditions, allow a medical termination of pregnancy. Preimplantation diagnosis is reserved for a limited number of situations. It can only be proposed when there is a proven risk of transmitting a serious and incurable genetic disease. It requires prior authorization from a multidisciplinary prenatal diagnosis center, and can only be carried out in specifically authorized centers.

The Agence de la biomédecine oversees all practices relating to medical genetics, prenatal diagnosis and preimplantation diagnosis. It issues activity permits for the centers concerned, and certifies practitioners authorized to carry out these procedures. It monitors the activity of authorized establishments, carries out on-site inspections and coordinates a vigilance system responsible for identifying, analyzing and preventing serious incidents. It also draws up professional recommendations, based on the work of experts and the analysis of practices, to support medical teams in their day-to-day work. The Agency collects, analyzes and publishes activity data from authorized centers, in order to produce useful indicators for professionals and public institutions, aimed at informing decisions and helping practices evolve. Finally, it supports research through an annual call for projects, designed to advance knowledge and practices in this field.

The Agence de la biomédecine provides reliable information on genetic testing, prenatal diagnosis and preimplantation diagnosis, in order to support the people concerned, healthcare professionals and the general public. It ensures that the indications, conditions of access, stages in the care pathway and limitations of these techniques are accessible. It also raises public awareness of the ethical issues associated with these practices, through transparent communication. At the same time, the Agency informs public authorities of scientific advances, practices observed on a European scale and possible changes to the legislative framework, in order to inform decisions on the use of these practices within an ethical and equitable framework.

In this section, you will find key figures, publications, actions and resources concerning medical genetics and genetic diagnostics.