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.

Autor: Baroutsou V; Department of Clinical Research, Faculty of Medicine, University of Basel, 4055 Basel, Switzerland., Duong V; Department of Clinical Research, Faculty of Medicine, University of Basel, 4055 Basel, Switzerland., Signorini A; Department of Clinical Research, Faculty of Medicine, University of Basel, 4055 Basel, Switzerland., Saccilotto R; Department of Clinical Research, Faculty of Medicine, University of Basel, 4055 Basel, Switzerland., Ciorba FM; Department of Mathematics and Computer Science, University of Basel, 4051 Basel, Switzerland., Bürki N; Women's Clinic, University Hospital Basel, 4031 Basel, Switzerland., Caiata-Zufferey M; Department of Business Economics, Health and Social Care, University of Applied Sciences and Arts of Southern Switzerland, 6928 Manno, Switzerland., Ryu JM; Division of Breast Surgery, Department of Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Republic of Korea., Kim SW; Department of Breast Surgery, Breast Care Center, Dairim St Mary's Hospital, Seoul 07442, Republic of Korea., Lim MC; Division of Tumor Immunology, Center for Gynecologic Cancer Research Institute and Hospital, National Cancer Center, Goyang 10408, Republic of Korea., Monnerat C; Department of Medical Oncology, Hospital of Jura, 2800 Delemont, Switzerland., Zürrer-Härdi U; Department of Medical Oncology, Cantonal Hospital Winterthur, 8400 Winterthur, Switzerland., Kim J; Department of Surgery, Asan Medical Center, University of Ulsan College of Medicine, Seoul 05505, Republic of Korea., Heinimann K; Institute for Medical Genetics and Pathology, University Hospital Basel, 4031 Basel, Switzerland.; Research Group Human Genomics, Department of Biomedicine, University of Basel, 4031 Basel, Switzerland., Graffeo R; Oncology Institute of Southern Switzerland, Ente Ospedaliero Cantonale (EOC), 6500 Bellinzona, Switzerland., Park JS; Hereditary Cancer Clinic, Cancer Prevention Center, Yonsei Cancer Center, Division of Medical Oncology, Department of Internal Medicine, Yonsei University College of Medicine, Seoul 03772, Republic of Korea., Rabaglio M; Department of Medical Oncology, Inselspital, Bern University Hospital, 3010 Bern, Switzerland., Chappuis PO; Unit of Oncogenetics, Division of Precision Oncology, University Hospitals of Geneva, 1205 Geneva, Switzerland.; Division of Genetic Medicine, University Hospitals of Geneva, 1205 Geneva, Switzerland., Kim S; College of Nursing, Yonsei University, Seoul 03722, Republic of Korea., Katapodi MC; Department of Clinical Research, Faculty of Medicine, University of Basel, 4055 Basel, Switzerland., On Behalf Of The Cascade And K-Cascade Consortia
Jazyk: angličtina
Zdroj: Cancers [Cancers (Basel)] 2023 Sep 09; Vol. 15 (18). Date of Electronic Publication: 2023 Sep 09.
DOI: 10.3390/cancers15184485
Abstrakt: 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.
Databáze: MEDLINE
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