Challenges of preconception genetic testing in France: A qualitative study.

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.

First French study relative to preconception genetic testing: 1500 general population participants' opinion.

BACKGROUND: Until very recently, preconception genetic testing was only conducted in particular communities, ethnic groups or families for which an increased risk of genetic disease was identified. To detect in general population a risk for a couple to have a child affected by a rare, recessive or X-linked, genetic disease, carrier screening is proposed in several countries. We aimed to determine the current public opinion relative to this approach in France, using either a printed or web-based questionnaire. RESULTS: Among the 1568 participants, 91% are favorable to preconception genetic tests and 57% declare to be willing to have the screening if the latter is available. A medical prescription by a family doctor or a gynecologist would be the best way to propose the test for 73%, with a reimbursement from the social security insurance. However, 19% declare not to be willing to use the test because of their ethic or moral convictions, and the fear that the outcome would question the pregnancy. Otherwise, most participants consider that the test is a medical progress despite the risk of an increased medicalization of the pregnancy. CONCLUSION: This first study in France highlights a global favorable opinion for the preconception genetic carrier testing under a medical prescription and a reimbursement by social security insurance. Our results emphasize as well the complex concerns underpinned by the use of this screening strategy. Therefore, the ethical issues related to these tests include the risk of eugenic drift mentioned by more than half of the participants.