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Acceptability and Usability of the Family Gene Toolkit for Swiss and Korean Families Harboring BRCA1/BRAC2 Pathogenic Variants: A Web-Based Platform for Cascade Genetic Testing.

Authors :
Baroutsou V
Duong V
Signorini A
Saccilotto R
Ciorba FM
Bürki N
Caiata-Zufferey M
Ryu JM
Kim SW
Lim MC
Monnerat C
Zürrer-Härdi U
Kim J
Heinimann K
Graffeo R
Park JS
Rabaglio M
Chappuis PO
Kim S
Katapodi MC
On Behalf Of The Cascade And K-Cascade Consortia
Source :
Cancers [Cancers (Basel)] 2023 Sep 09; Vol. 15 (18). Date of Electronic Publication: 2023 Sep 09.
Publication Year :
2023

Abstract

The study adapted the Family Gene Toolkit and developed a customized web application for Swiss and Korean families harboring BRCA1 or BRCA2 pathogenic variants to support family communication of genetic testing results and promote cascade genetic testing among at-risk relatives. In the first step, narrative data from 68 women with BRCA1 / BRCA2 pathogenic variants and clinician feedback informed a culturally sensitive adaptation of the content consistent with current risk management guidelines. In the second step, the Information Technology team developed the functions and the interface of the web application that will host the intervention. In the third step, a new sample of 18 women from families harboring BRCA1 / BRCA2 pathogenic variants tested the acceptability and usability of the intervention using "think-aloud" interviews and a questionnaire. Participants expressed high levels of satisfaction with the intervention. They provided positive feedback for the information regarding active coping, strategies to enhance family communication, interactive elements, and illustrative stories. They reported that the information was useful and the web application was easy to navigate. Findings suggest that the Family Gene Toolkit is well-designed and can increase rates of cascade testing among at-risk relatives. Its efficacy will be tested in a subsequent randomized trial.

Details

Language :
English
ISSN :
2072-6694
Volume :
15
Issue :
18
Database :
MEDLINE
Journal :
Cancers
Publication Type :
Academic Journal
Accession number :
37760455
Full Text :
https://doi.org/10.3390/cancers15184485