Journal article

Attitudes of European Geneticists Regarding Expanded Carrier Screening.

Sandra Janssens, Davit Chokoshvili, Danya Vears, Anne De Paepe, Pascal Borry

JOGNN - Journal of Obstetric, Gynecologic, and Neonatal Nursing | Elsevier | Published : 2017


OBJECTIVE: To explore attitudes of clinical and molecular geneticists about the implementation of multi-disease or expanded carrier screening (ECS) for monogenic recessive disorders. DESIGN: Qualitative; semistructured interviews. SETTING: In person or via Skype. Interviews were audiorecorded and transcribed verbatim. PARTICIPANTS: European clinical and molecular geneticists with expertise in carrier screening (N = 16). METHODS: Inductive content analysis was used to identify common content categories in the data. RESULTS: Participants recognized important benefits of ECS, but they also identified major challenges, including limited benefit of ECS for most couples in the general population, ..

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University of Melbourne Researchers