TY - JOUR
T1 - Acceptability and Usability of the Family Gene Toolkit for Swiss and Korean Families Harboring BRCA1/BRAC2 Pathogenic Variants
T2 - A Web-Based Platform for Cascade Genetic Testing
AU - Baroutsou, Vasiliki
AU - Duong, Vu
AU - Signorini, Alice
AU - Saccilotto, Ramon
AU - Ciorba, Florina M.
AU - Bürki, Nicole
AU - Caiata-Zufferey, Maria
AU - Ryu, Jai Min
AU - Kim, Sung Won
AU - Lim, Myong Cheol
AU - Monnerat, Christian
AU - Zürrer-Härdi, Ursina
AU - Kim, Jisun
AU - Heinimann, Karl
AU - Graffeo, Rossella
AU - Park, Ji Soo
AU - Rabaglio, Manuela
AU - Chappuis, Pierre Olivier
AU - Kim, Sue
AU - Katapodi, Maria C.
N1 - Publisher Copyright:
© 2023 by the authors.
PY - 2023/9
Y1 - 2023/9
N2 - 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.
AB - 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.
KW - HBOC
KW - Tier 1 genetic condition
KW - active coping
KW - decisional support
KW - family communication
KW - genetic counseling
KW - psychoeducational intervention
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U2 - 10.3390/cancers15184485
DO - 10.3390/cancers15184485
M3 - Article
AN - SCOPUS:85172781177
SN - 2072-6694
VL - 15
JO - Cancers
JF - Cancers
IS - 18
M1 - 4485
ER -