Journal article

Pre- and post-testing counseling considerations for the provision of expanded carrier screening: exploration of European geneticists' views.

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

BMC Med Ethics | Published : 2017

Abstract

BACKGROUND: Carrier screening is generally performed with the aim of identifying healthy couples at risk of having a child affected with a monogenic disorder to provide them with reproductive options. Expanded carrier screening (ECS), which provides the opportunity for multiple conditions to be screened in one test, offers a more cost-effective and comprehensive option than screening for single disorders. However, implementation of ECS at a population level would have implications for genetic counseling practice. METHODS: We conducted semi-structured interviews with sixteen European clinical and molecular geneticists with expertise in carrier screening to explore their views on the implement..

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University of Melbourne Researchers