Players and resources

Prenatal diagnosis (PND) and preimplantation diagnosis (PGD) involve several specialized structures. Pluridisciplinary prenatal diagnosis centers (CPDPN) and preimplantation diagnosis centers (CDPI) inform and support patients throughout the screening or diagnosis of a particularly serious disease in the embryo or fetus. CPDPNs and CDPIs are authorized by the Agence de la biomédecine, which also inspects them in conjunction with regional health agencies. There are currently five preimplantation diagnosis centers in France. Genetic analyses are carried out in accredited medical biology laboratories specializing in genetics. Practitioners carrying out these tests must be accredited by the Agence de la biomédecine, and comply with the recommendations for good practice drawn up in conjunction with the Haute Autorité de santé.

Learned societies play a key role in the evolution of practices in this field. They help to structure research, encourage the training of healthcare professionals and draw up medical recommendations in a constantly evolving field. The Agence de la biomédecine draws on their expertise through working groups, ethical discussions and joint publications. This regular dialogue enables us to incorporate the latest scientific knowledge into our practice guidelines and the resources available to professionals.

Patient associations play an essential role in the field of medical genetics. They represent patients and their families in working groups led by the Agence de la biomédecine, notably as part of the national plan for human procreation, embryology and genetics. They help to ensure that the voice of users is heard and to raise public awareness of the realities of genetic diseases, by disseminating accessible information on pathologies and medical advances.