Beate Vajen

Personalized Support in Hereditary Breast and Ovarian Cancer After Genetic Counseling by the Chatbot-Based GENIE Mobile App: Proof-of-Concept Wizard of Oz Study

Abstract Background The primary aim of genetic counseling at a human genetics center is to empower individuals at risk for hereditary diseases to make informed decisions regarding their health. In Germany, genetic counseling sessions typically last approximately 1 hour and provide highly personalized information by a specialist in human genetics. Despite this, many counselees report a need for additional support following the counseling session. Objective This study introduces GENIE, a chatbot-based mobile app designed to assist individuals in the postcounseling phase, with a focus on hereditary breast and ovarian cancer. GENIE delivers expert-curated, personalized information tailored to the user’s health and family circumstances. The content is presented through predefined dialogs between the user and the mobile assistant, aiming to extend the benefits of genetic counseling beyond the initial session. Methods A Wizard of Oz study was conducted to evaluate a functional prototype of GENIE. A total of 6 patients with breast cancer, at least 2 years postdiagnosis, participated in the study. Participants were given access to the app for a minimum of 1 week. The evaluation was based on their interaction with GENIE, which was personalized using the details of a fictitious patient. Data collection included semistructured interviews and a 45-item questionnaire to assess usability and content quality. Results The analysis of the interview and questionnaire data indicated high usability for GENIE, with a mean System Usability Score of 75.33 (SD 4.13). In total, 5 of the 6 participants used the app daily; 3 participants were willing to pay between US $5 and US $45 as a single purchase, while the other 3 participants agreed that the app should be free for the user and the costs should be directly covered by health insurance. Still, opinions on the app’s appeal were divided. The layout was seen as moderately professional, a bit crowded, and slightly uninspiring. Nevertheless, participants highlighted the credibility and relevance of the content, noting its alignment with the fictitious patient’s scenario. However, areas for improvement were identified, particularly concerning the app’s design. All participants would recommend the app to other affected persons. Conclusions The findings suggest that a mobile app like GENIE can provide valuable support to individuals in the postcounseling phase of genetic services. GENIE offers distinct advantages over large language models, as the information it provides is carefully curated by human experts, minimizing the risk of inaccuracies or hallucinations and significantly enhancing the system’s credibility. This study highlights the need to involve the user group as early as possible in the development of a digital health app. Future work will focus on the implementation of a comprehensive personalization engine, redesign of the user interface, and the execution of a large-scale, 2-arm randomized intervention study to validate GENIE’s effectiveness.

Psychological Distress and Coping Ability of Women at High Risk of Hereditary Breast and Ovarian Cancer before Undergoing Genetic Counseling—An Exploratory Study from Germany

Carriers of pathogenic variants causing hereditary breast and ovarian cancer (HBOC) are confronted with a high risk to develop malignancies early in life. The present study aimed to determine the type of psychological distress and coping ability in women with a suspicion of HBOC. In particular, we were interested if the self-assessed genetic risk had an influence on health concerns and coping ability. Using a questionnaire established by the German HBOC Consortium, we investigated 255 women with breast cancer and 161 healthy women before they were seen for genetic counseling. The group of healthy women was divided into groups of high and low self-assessed risk. In our study, healthy women with a high self-assessed risk stated the highest stress level and worries about their health and future. A quarter of the women requested psychological support. Overall, only few women (4–11%) stated that they did not feel able to cope with the genetic test result. More women (11–23%, highest values in the low-risk group) worried about the coping ability of relatives. The results of our exploratory study demonstrate that the women, who presented at the Department of Human Genetics, Hanover Medical School, Germany were aware of their genetic risk and had severe concerns about their future health, but still felt able to cope with the genetic test result.