Preliminary Screening for Hereditary Breast and Ovarian Cancer Using a Chatbot Augmented Intelligence Genetic Counselor: Development and Feasibility Study.

Breast cancer is the most common form of cancer in Japan; genetic background and hereditary breast and ovarian cancer (HBOC) are implicated. The key to HBOC diagnosis involves screening to identify high-risk individuals. However, genetic medicine is still developing; thus, many patients who may potentially benefit from genetic medicine have not yet been identified. This study's objective is to develop a chatbot system that uses augmented intelligence for HBOC screening to determine whether patients meet the National Comprehensive Cancer Network (NCCN) BRCA1/2 testing criteria. The system was evaluated by a doctor specializing in genetic medicine and certified genetic counselors. We prepared 3 scenarios and created a conversation with the chatbot to reflect each one. Then we evaluated chatbot feasibility, the required time, the medical accuracy of conversations and family history, and the final result. The times required for the conversation were 7 minutes for scenario 1, 15 minutes for scenario 2, and 16 minutes for scenario 3. Scenarios 1 and 2 met the BRCA1/2 testing criteria, but scenario 3 did not, and this result was consistent with the findings of 3 experts who retrospectively reviewed conversations with the chatbot according to the 3 scenarios. A family history comparison ascertained by the chatbot with the actual scenarios revealed that each result was consistent with each scenario. From a genetic medicine perspective, no errors were noted by the 3 experts. This study demonstrated that chatbot systems could be applied to preliminary genetic medicine screening for HBOC.

Sato A ，Haneda E ，Suganuma N ，Narimatsu H ... -  《-》

Ask Rosa - The making of a digital genetic conversation tool, a chatbot, about hereditary breast and ovarian cancer.

We aimed at developing a pilot version of an app (Rosa) that can perform digital conversations with breast or ovarian cancer patients about genetic BRCA testing, using chatbot technology, to identify best practices for future patient-focused chatbots. We chose a commercial chatbot platform and participatory methodology with a team of patient representatives, IT engineers, genetic counselors and clinical geneticists, within a nationwide collaboration. An iterative approach ensured extensive user and formal usability testing during the development process. The development phase lasted for two years until the pilot version was completed in December 2019. The iteration steps disclosed major challenges in the artificial intelligence (AI)-based matching of user provided questions with predefined information in the database, leading initially to high level of fallback answers. We therefore developed strategies to reduce potential language ambiguities (e.g. BRCA1 vs BRCA2) and overcome dialogue confusion. The first prototype contained a database with 500 predefined questions and 67 corresponding predefined answers, while the final version included 2257 predefined questions and 144 predefined answers. Despite the limited AI functionality of the chatbot, the testing revealed that the users liked the layout and found the chatbot trustworthy and reader friendly. Building a health chatbot is challenging, expensive and time consuming with today's technology. The users had a positive attitude to the chatbot, and would use it in a real life setting, if given to them by health care personnel. We here present a framework for future health chatbot initiatives. The participatory methodology in combination with an iterative approach ensured that the patient perspective was incorporated at every level of the development process. We strongly recommend this approach in patient-centered health innovations.

Siglen E ，Vetti HH ，Lunde ABF ，Hatlebrekke TA ，Strømsvik N ，Hamang A ，Hovland ST ，Rettberg JW ，Steen VM ，Bjorvatn C ... -  《-》

A Randomized Trial Comparing the Effectiveness of Pre-test Genetic Counseling Using an Artificial Intelligence Automated Chatbot and Traditional In-person Genetic Counseling in Women Newly Diagnosed with Breast Cancer.

Al-Hilli Z ，Noss R ，Dickard J ，Wei W ，Chichura A ，Wu V ，Renicker K ，Pederson HJ ，Eng C ... -  《-》

Evaluation of the Rosa Chatbot Providing Genetic Information to Patients at Risk of Hereditary Breast and Ovarian Cancer: Qualitative Interview Study.

Genetic testing has become an integrated part of health care for patients with breast or ovarian cancer, and the increasing demand for genetic testing is accompanied by an increasing need for easy access to reliable genetic information for patients. Therefore, we developed a chatbot app (Rosa) that is able to perform humanlike digital conversations about genetic BRCA testing. Before implementing this new information service in daily clinical practice, we wanted to explore 2 aspects of chatbot use: the perceived utility and trust in chatbot technology among healthy patients at risk of hereditary cancer and how interaction with a chatbot regarding sensitive information about hereditary cancer influences patients. Overall, 175 healthy individuals at risk of hereditary breast and ovarian cancer were invited to test the chatbot, Rosa, before and after genetic counseling. To secure a varied sample, participants were recruited from all cancer genetic clinics in Norway, and the selection was based on age, gender, and risk of having a BRCA pathogenic variant. Among the 34.9% (61/175) of participants who consented for individual interview, a selected subgroup (16/61, 26%) shared their experience through in-depth interviews via video. The semistructured interviews covered the following topics: usability, perceived usefulness, trust in the information received via the chatbot, how Rosa influenced the user, and thoughts about future use of digital tools in health care. The transcripts were analyzed using the stepwise-deductive inductive approach. The overall finding was that the chatbot was very welcomed by the participants. They appreciated the 24/7 availability wherever they were and the possibility to use it to prepare for genetic counseling and to repeat and ask questions about what had been said afterward. As Rosa was created by health care professionals, they also valued the information they received as being medically correct. Rosa was referred to as being better than Google because it provided specific and reliable answers to their questions. The findings were summed up in 3 concepts: "Anytime, anywhere"; "In addition, not instead"; and "Trustworthy and true." All participants (16/16) denied increased worry after reading about genetic testing and hereditary breast and ovarian cancer in Rosa. Our results indicate that a genetic information chatbot has the potential to contribute to easy access to uniform information for patients at risk of hereditary breast and ovarian cancer, regardless of geographical location. The 24/7 availability of quality-assured information, tailored to the specific situation, had a reassuring effect on our participants. It was consistent across concepts that Rosa was a tool for preparation and repetition; however, none of the participants (0/16) supported that Rosa could replace genetic counseling if hereditary cancer was confirmed. This indicates that a chatbot can be a well-suited digital companion to genetic counseling.

Siglen E ，Vetti HH ，Augestad M ，Steen VM ，Lunde Å ，Bjorvatn C ... -  《JOURNAL OF MEDICAL INTERNET RESEARCH》

Hereditary Cancer Risk Using a Genetic Chatbot Before Routine Care Visits.

To examine user uptake and experience with a clinical chatbot that automates hereditary cancer risk triage by collecting personal and family cancer history in routine women's health care settings. We conducted a multicenter, retrospective observational study of patients who used a web-based chatbot before routine care appointments to assess their risk for hereditary breast and ovarian cancer, Lynch syndrome, and adenomatous polyposis syndromes. Outcome measures included uptake and completion of the risk-assessment and educational section of the chatbot interaction and identification of hereditary cancer risk as evaluated against National Comprehensive Cancer Network criteria. Of the 95,166 patients invited, 61,070 (64.2%) engaged with the clinical chatbot. The vast majority completed the cancer risk assessment (89.4%), and most completed the genetic testing education section (71.4%), indicating high acceptability among those who opted to engage. The mean duration of use was 15.4 minutes (SD 2 hours, 56.2 minutes) when gaps of inactivity longer than 5 minutes were excluded. A personal history of cancer was reported by 19.1% (10,849/56,656) and a family history of cancer was reported by 66.7% (36,469/54,652) of patients who provided the relevant information. One in four patients (14,850/54,547) screened with the chatbot before routine care appointments met National Comprehensive Cancer Network criteria for genetic testing. Among those who were tested, 5.6% (73/1,313) had a disease-causing pathogenic variant. A chatbot digital health tool can help identify patients at high risk for hereditary cancer syndromes before routine care appointments. This scalable intervention can effectively provide cancer risk assessment, engage patients with educational information, and facilitate a path toward preventive genetic testing. Implementation of the chatbot in clinics was funded by industry support from commercial genetic testing laboratories Ambry, Invitae, and Progenity.

Nazareth S ，Hayward L ，Simmons E ，Snir M ，Hatchell KE ，Rojahn S ，Slotnick RN ，Nussbaum RL ... -  《-》