Authors
Sandra Janssens, Davit Chokoshvili, Danya Vears, Anne De Paepe, Pascal Borry
Publication date
2017/1/1
Journal
Journal of Obstetric, Gynecologic & Neonatal Nursing
Volume
46
Issue
1
Pages
63-71
Publisher
Elsevier
Description
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, lack of knowledge on carrier screening among nongenetic health care providers and the general public, potential negative implications of ECS for society, and limited economic resources. Participants favored an evidence-based approach …
Total citations
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Scholar articles
S Janssens, D Chokoshvili, D Vears, A De Paepe… - Journal of Obstetric, Gynecologic & Neonatal Nursing, 2017