Use of Prenatal Exome Sequencing: Opinion Statement of the French Federation of Human Genetics Working Group.

Autor: Cogan G; Département de génétique médicale, AP-HP Sorbonne Université, UF de Neurogénétique Moléculaire et Cellulaire, Hôpital Pitié-Salpêtrière, Paris, France., Troadec MB; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; CHRU Brest, service de génétique, laboratoire de génétique chromosomique, Brest, France., Devillard F; Service de génétique génomique et procréation, Hôpital Couple-Enfant, CHU Grenoble, Grenoble, France., Saint-Frison MH; Département de génétique - UF de fœtopathologie, CHU Robert Debré, Paris, France., Geneviève D; Université Montpellier, Inserm U1183, centre de référence anomalies du développement et syndromes malformatifs, Service de génétique clinique, CHU Montpellier, Montpellier, France., Vialard F; Service de Biologie Médicale, Centre Hospitalier de Poissy-Saint Germain, Poissy, France., Rial-Sebbag E; CERPOP, Inserm, Toulouse Paul Sabatier University, Toulouse, France., Héron D; Département de génétique médicale, AP-HP Sorbonne Université, UF de génétique clinique, Hôpital Pitié-Salpêtrière, Paris, France., Attie-Bitach T; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, Assistance Publique - Hôpitaux de Paris, Paris, France., Benachi A; AP-HP, Université Paris-Saclay, Service de Gynécologie-Obstétrique, Hôpital Antoine Béclère, Clamart, France., Saugier-Veber P; Department of Genetics and Reference Center for Developmental Disorders, Université Rouen Normandie, Inserm U1245 and CHU Rouen, Rouen, France.
Jazyk: angličtina
Zdroj: Prenatal diagnosis [Prenat Diagn] 2024 Nov 12. Date of Electronic Publication: 2024 Nov 12.
DOI: 10.1002/pd.6692
Abstrakt: Objective: Prenatal whole exome sequencing (pES) is increasingly prescribed for fetuses with ultrasound anomalies. Starting from the local French prenatal medicine practice, healthcare system and legal landscape, we aimed to address the broad medical and ethical issues raised by the use of pES for women and couples as well as for prenatal care providers.
Method: The French Federation of Human Genetics established a working group composed of clinicians and biologists from all over France to discuss pES challenges. A literature review was also performed.
Results: We emphasize the importance of non-directive information that helps couples make a decision that is consistent with their personal values and ideas. We address the difficulty of obtaining informed consent that respects the couple's autonomy, despite the complexity of the information and regardless of their level of education and cultural background. We address whether variants of uncertain significance and unsolicited results should be reported. We emphasize the need for national harmonization of access to pES and the need for multidisciplinary meetings in complex situations. We point out that the specific French context of healthcare financing and the French law have a major influence on medical care organization and support for couples. The outcome of the working group is the development of 12 proposals.
Conclusion: This opinion statement, dedicated to prenatal care providers worldwide although linked to the French context, will provide food for thought and assist them in understanding the complexity and implications of pES.
(© 2024 The Author(s). Prenatal Diagnosis published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
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