Hiroto Narimatsu

Preliminary Screening for Hereditary Breast and Ovarian Cancer Using an AI Chatbot as a Genetic Counselor: Clinical Study

Background Hereditary breast and ovarian cancer (HBOC) is a major type of hereditary cancer. Establishing effective screening to identify high-risk individuals for HBOC remains a challenge. We developed a prototype of a chatbot system that uses artificial intelligence (AI) for preliminary HBOC screening to determine whether individuals meet the National Comprehensive Cancer Network BRCA1/2 testing criteria. Objective This study’s objective was to validate the feasibility of this chatbot in a clinical setting by using it on a patient population that visited a hospital. Methods We validated the medical accuracy of the chatbot system by performing a test on patients who consecutively visited the Kanagawa Cancer Center. The participants completed a preoperation questionnaire to understand their background, including information technology literacy. After the operation, qualitative interviews were conducted to collect data on the usability and acceptability of the system and examine points needing improvement. Results A total of 11 participants were enrolled between October and December 2020. All of the participants were women, and among them, 10 (91%) had cancer. According to the questionnaire, 6 (54%) participants had never heard of a chatbot, while 7 (64%) had never used one. All participants were able to complete the chatbot operation, and the average time required for the operation was 18.0 (SD 5.44) minutes. The determinations by the chatbot of whether the participants met the BRCA1/2 testing criteria based on their medical and family history were consistent with those by certified genetic counselors (CGCs). We compared the medical histories obtained from the participants by the CGCs with those by the chatbot. Of the 11 participants, 3 (27%) entered information different from that obtained by the CGCs. These discrepancies were caused by the participant’s omissions or communication errors with the chatbot. Regarding the family histories, the chatbot provided new information for 3 (27%) of the 11 participants and complemented information for the family members of 5 (45%) participants not interviewed by the CGCs. The chatbot could not obtain some information on the family history of 6 (54%) participants due to several reasons, such as being outside of the scope of the chatbot’s interview questions, the participant’s omissions, and communication errors with the chatbot. Interview data were classified into the following: (1) features, (2) appearance, (3) usability and preferences, (4) concerns, (5) benefits, and (6) implementation. Favorable comments on implementation feasibility and comments on improvements were also obtained. Conclusions This study demonstrated that the preliminary screening system for HBOC using an AI chatbot was feasible for real patients.

Efficacy of Clinical Guidelines in Identifying All Japanese Patients with Hereditary Breast and Ovarian Cancer

Clinical screening using the National Comprehensive Cancer Network (NCCN) testing criteria may fail to identify all patients with hereditary breast and ovarian cancers. Thus, this study aimed to evaluate the strategy of expanding target patients for genetic testing among Japanese patients. We reviewed the medical records of 91 breast cancer patients who underwent genetic testing. Among 91 patients, eight were diagnosed with pathogenic or likely pathogenic variants: BRCA1 (n = 4) and BRCA2 (n = 4). Among 50 patients meeting the testing criteria of the guidelines, 6 (12%) were diagnosed with pathogenic or likely pathogenic variants. The sensitivity and specificity of screening using the testing criteria were 75% and 47%, respectively. Expanding the NCCN criteria to include all women diagnosed with breast cancer aged ≤65 years achieved 88% sensitivity but 8% specificity. The expansion of the NCCN criteria could benefit Japanese patients; however, larger studies are necessary to change clinical practice.

Trends in 5-year net survival for women diagnosed with breast, cervical or ovarian cancer in Japan, 2000–14 (CONCORD-3)

Abstract Background Breast, cervical and ovarian cancers significantly affect young and middle-aged women, both physically and socially. However, relevant comprehensive stratified analyses are limited. Using Japanese data from CONCORD-3, a global cancer survival surveillance program, we analyzed long-term survival trends. Methods Data from 16 Japanese population-based cancer registries were analyzed for women diagnosed aged 15–99 years during 2000–2014 with a tumor originating in the breast, cervix uteri or ovaries. Follow-up was extended to five years post-diagnosis or until December 31st, 2014. In situ tumors and death-certificate-only registrations were excluded. Five-year net survival was estimated with the Pohar Perme estimator by calendar period of diagnosis, morphology and stage, and age-standardized with International Cancer Survival Standard weights. Results During 2000–2014, 5-year net survival improved for breast cancer from 85.9% (95% CI, 85.2–86.6%) to 89.4% (88.9–89.9%), for cervical cancer from 67.5% (66.3–68.7%) to 71.4% (70.4–72.3%), and for ovarian cancer from 35.5% (33.8–37.2%) to 46.3% (44.9–47.7%). Five-year survival for tumors diagnosed at a localized stage remained consistently high (>98% for breast cancer and > 90% for cervical cancer). Ovarian cancer survival varied greatly according to morphology. Conclusions Five-year net survival for women with cancers of the breast, cervix, and ovary) in Japan improved during 2000–2014, and remained at a globally high level throughout this period. These gains are probably attributable to earlier detection of breast and cervical cancers and advances in multimodal treatment for all cancers. Survival for distant-stage cervical and ovarian cancers remains a challenge, underscoring the need for enhanced screening and treatment strategies.