Comprehensive assessment of hereditary cancer risk using artificial intelligence (AI) chatbot for women undergoing gynecological cancer screening

Abstract

To identify patients at high risk of hereditary cancer, opportunistic screening based on germline pathogenic variant is important because it can lead to early detection of cancer. We conducted the SEIREI-CARE (comprehensive assessment, risk and education) program, which is a genetic evaluation for hereditary cancer aimed at women undergoing gynecological cancer screening, by using an artificial intelligence (AI) chatbot based on the National Comprehensive Cancer Network Guidelines from April 2021 to May 2023. Patients who met the NCCN criteria were referred to genetic counseling and germline multigene panel testing (MGPT). Among the 37,493 patients invited, 2,863 (7.6%) registered through and completed the chatbot survey, and 757 (26.4%) of them met the NCCN criteria. Fifty-two patients (6.9%) received genetic counseling, and 9 patients (1.2%) underwent germline MGPT. Thus, we determined the rate of at-risk women for hereditary cancer for the first time in Japan, and found that a low percentage of patients received genetic counseling and germline MGPT. This low percentage is considered to be due to a lack of genetic awareness among patients as well as health care professionals. Therefore, we need to provide education for patients along with improving our medical genetic knowledge.