Abstract
Abstract
Therapeutic advances and the rapid, cost-effective development of next-generation sequencing (NGS) have increased interest in expanding newborn screening (NBS) through genomics. The SeDeN-p2 study assessed the acceptability among healthcare professionals in France, of expanding NBS, particularly with genetics as a first-line test, by examining areas of convergence and divergence in their expectations. A national cross-sectional survey was conducted between June and December 2021 via professional networks and learned societies involved in NBS and genetics, in partnership with the French Society of Newborn Screening. The questionnaire comprised 101 closed-ended and 14 open-ended questions. After data cleaning, 1077 responses were analysed. Respondents were mainly paediatricians (43%), gynaecologists or midwives (36%), and medical geneticists or genetic counsellors (17%). Support for the inclusion of treatable childhood-onset conditions was very high, with over 95% endorsing their integration into NBS, although 29% still considered the current NBS programme sufficient. Views varied substantially by specialty, particularly regarding the scope of conditions and the use of NGS. Genetics professionals were more conservative, especially concerning variants with limited actionability, organisational constraints, and interpretive uncertainty, while midwives and gynaecologists were generally more favourable. Convergence was strongest for treatable paediatric conditions and shared ethical concerns, notably data misuse, psychosocial burden, and the child’s future autonomy. The need for improved communication with families was widely emphasised. The SeDeN-p2 study shows strong but conditional support among French healthcare professionals for integrating genetics into NBS, providing key insights to inform future policy and practice.