Challenges of preconception genetic testing in France: A qualitative study

Abstract

Preconception genetic testing is carried out to inform couples on their carrier status for recessive or X-linked genetic disease, and aims to extend their possible reproductive choices. These genetic tests are available in several countries and are currently being considered in France in the context of bioethics laws revision, raising multiple medical, ethical, and societal concerns. To provide insights into questions relative to preconception genetic testing implementation, we conducted, through a qualitative research methodology, individual and group interviews in families with experience of genetic disease, physicians and researchers in the human and social sciences, and an ethics committee. In particular, the respondents agreed on the importance of a free test and an informed choice. The economic stakes of the test appeared to be a major determinant of its development for the participants. The use of genetic data has been a source of raised fears of a eugenic drift. The remaining questions were relative to the pathologies to be tested, the access to the test, its supervision, the role of physicians and in particular of primary care professionals. Based on individual opinions and collective debates, our work delimits the challenges of preconception genetic testing implementation in France through a qualitative methodology, providing further data necessary to its introduction in the health care system.

Keywords: Carrier; Genetic disease; Preconception genetic tests; Procreation.