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

Abstract

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.

Societal implications of expanded universal carrier screening: a scoping review

“…Table 1 gives an oversight of the main characteristics of the articles included. Authors were from the United States and Canada [ 25 – 32 ], Australia and New Zealand [ 13 , 33 , 34 ], the United Kingdom [ 35 , 36 ], the Netherlands, [ 2 , 5 , 20 , 37 – 49 ] Sweden, [ 14 , 50 – 53 ] Belgium [ 10 , 54 ], Israel, [ 6 , 55 – 57 ] France [ 58 ] and Cyprus [ 4 , 7 ], or consisted of a panel of European or international stakeholders [ 3 , 21 ]. Most articles were published after 2011.…”

“…Most articles were published after 2011. [ 2 , 3 , 5 , 9 , 10 , 13 , 14 , 20 , 21 , 25 – 31 , 33 , 35 , 36 , 38 – 41 , 43 – 55 , 58 ] Multiple article types were present in this selection, including primary data of quantitative survey studies [ 30 , 38 , 44 , 48 , 50 , 58 ] and qualitative studies, [ 2 , 6 , 29 , 39 , 46 , 49 , 51 – 55 ] a witness seminar [ 41 ], a workshop with experts [ 3 ], descriptions of previous screening offers or evaluations thereof [ 21 , 40 , 42 , 43 , 57 ], theoretical papers [ 4 , 7 , 13 , 14 , 20 , 27 , 28 , 31 , 32 , 34 , 35 , 45 , 47 ], literature reviews [ 10 , 33 , 36 , 56 ], an expert consensus paper [ 5 ], cost-effectiveness analyses [ 25 , 26 ] and a sociotechnical analysis [ 37 ].…”

“… Expanded Two themes were identified in the analysis: (1)‘Choice and its complexity’, which suggests that medical, moral, social and psychological aspects co-shape the complexity of choice regarding EUCS and (2) EUCS as prompting existential concerns’, indicating that it is not possible to analyse existential issues raised by EUCS solely on the level of the couple or family but that a societal level must be included, since these levels affect each other (referred to as ‘entangled existential genetics’). Bonneau [ 58 ] 2022 France Quantitative survey article among members of the general population ( N = 1568) To collect French general population opinion on the implementation of preconception genetic testing and explore the factors associated with a difference of opinion. Expanded In this study, 91% of participants was favorable to ECS and 57% declare to be willing to participate in screening.…”

Qualitative study of GPs’ views and experiences of population-based preconception expanded carrier screening in the Netherlands: bioethical perspectives

“…A strength in our study is the methodological approach of empirical bioethics. It allows us to combine qualitative analysis with an ethical discussion, maintaining a detailed analysis of descriptions of PECS by GPs, a group of clinicians who may play a crucial role in offering PECS8 12–14 and an analysis of ethical complexities. The in-depth nature of the interviews is also a strength of this study even though the relatively small sample in the interviews could be seen as a limitation.…”

“…Both in the Netherlands and internationally, GPs have been described as important in offering population-based PECS 12. Some studies have shown that the public prefers that GPs offer the test,13 14 rather than clinical geneticists or midwives,11 and it is probable that GPs will receive more questions about PECS as general knowledge of the practice increases 15. However, little is known about GPs’ views and experiences of PECS.…”