Cascade Chatbot: A Scalable Approach to Family-Based Genetic Testing for Hereditary Cancer Syndromes.

Overview

abstract

PURPOSE: Cascade genetic testing enables identification of relatives at risk of hereditary cancer syndromes, creating opportunities for early detection and prevention. However, uptake of cascade testing remains low, with approximately one-third of eligible relatives completing testing, largely because of reliance on patient-mediated communication. Although clinician-mediated outreach has demonstrated improved efficacy, it is often limited by resource demands. Scalable digital health tools are a promising strategy to address this gap in testing uptake. METHODS: In this quality improvement initiative, we developed a digital cascade chatbot to deliver gene-specific education and facilitate access to genetic services among at-risk relatives. Between October 2024 and January 2025, 100 consecutive probands with a hereditary cancer pathogenic variant seen in a gynecologic oncology clinic were offered a cascade chatbot to share with their relatives. The primary outcome was proband acceptance of the cascade chatbot. Secondary outcomes included sharing of the cascade chatbot with at-risk relatives and relatives' subsequent utilization of genetic services. Outcomes were evaluated through telephone follow-up at 2 weeks and 3 months after chatbot introduction. RESULTS: Fifty-nine of 100 probands reported having relatives who had not undergone genetic testing. Among this group, 58 (98.3%) accepted the cascade chatbot. At 2-week follow-up, 44 of 58 probands (75.9%) had shared the cascade chatbot with at least one relative, and an additional eight (13.8%) reported plans to share. At 3-month follow-up with probands, 48 (82.8%) probands had shared the cascade chatbot with at least one relative. A total of 122 relatives received the cascade chatbot and 96 (78.7%) were reached for 3-month follow-up. Among the 96 relatives reached, 49 (51.0%) had scheduled or completed a genetics appointment, and of them, 36 (73.5%) had completed testing. CONCLUSION: A cascade chatbot was highly acceptable to probands and effectively engaged relatives. Scalable digital health tools may enhance cascade testing and support precision cancer prevention.