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Updated: Aug 5, 2026

Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors
Published on: February 28, 2021
Development and Usability Testing of an Information Needs-Based Chatbot for Individuals With Pathogenic Variants in
Sun-Young Park1, Youlim Kim2, Maria C Katapodi3,4
1College of Nursing, Research Institute of Nursing Innovation, Kyungpook National University, Daegu, South Korea.
None:
Korean individuals with BRCA pathogenic/likely pathogenic (P/LP) variants have limited access to genetic counseling due to shortages of genetic professionals and lack of reimbursement. Despite the growing interest in digital health interventions, few digital counseling support tools have been designed to address the diverse information needs of this population. This study aimed to develop a user information needs-based chatbot for providing individualized information for individuals with BRCA pathogenic variants and to evaluate its usability. The chatbot, All about BRCA, was developed using a commercial chatbot platform through three stages from October 2021 to September 2022: identifying information needs via a systematic review and web-crawling analysis of patient-generative questions from online communities; developing a prototype chatbot validated by seven healthcare professionals and implementing it as rule-based system; conducting usability testing with individuals with P/LP variants in BRCA genes, using the modified mHealth App Usability Questionnaire and daily usage diaries. The modified mHealth App Usability Questionnaire scores were analyzed using descriptive statistics, and narrative diary data were analyzed using content analysis. Following iterative rounds of reviews and usability testing, the final chatbot comprised 10 information categories with 62 predefined question-scenario-responses. Nineteen participants evaluated the chatbot, yielding a mean modified mHealth App Usability Questionnaire score of 5.7 ± 0.8 out of 7. Scoring on all subscales, that is, ease of use, interface/satisfaction, and usefulness, exceeded 5.5. Responses on narrative diary data were predominantly positive, with users valuing systematic, detailed, and practical information. Key limitations of the chatbot included restricted question recognition and limited information depth. Despite limitations in question recognition, the chatbot demonstrated acceptable usability as a complementary tool to support individuals with BRCA pathogenic variants. It may help address constraints of limited consultation time and genetic expert shortages. Future development should strengthen conversational capabilities.
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