Automated Clinical Practice Guideline Recommendations for Hereditary Cancer Risk Using Chatbots and Ontologies: System Description

Abstract

Background Identifying patients at risk of hereditary cancer based on their family health history is a highly nuanced task. Frequently, patients at risk are not referred for genetic counseling as providers lack the time and training to collect and assess their family health history. Consequently, patients at risk do not receive genetic counseling and testing that they need to determine the preventive steps they should take to mitigate their risk. Objective This study aims to automate clinical practice guideline recommendations for hereditary cancer risk based on patient family health history. Methods We combined chatbots, web application programming interfaces, clinical practice guidelines, and ontologies into a web service–oriented system that can automate family health history collection and assessment. We used Owlready2 and Protégé to develop a lightweight, patient-centric clinical practice guideline domain ontology using hereditary cancer criteria from the American College of Medical Genetics and Genomics and the National Cancer Comprehensive Network. Results The domain ontology has 758 classes, 20 object properties, 23 datatype properties, and 42 individuals and encompasses 44 cancers, 144 genes, and 113 clinical practice guideline criteria. So far, it has been used to assess >5000 family health history cases. We created 192 test cases to ensure concordance with clinical practice guidelines. The average test case completes in 4.5 (SD 1.9) seconds, the longest in 19.6 seconds, and the shortest in 2.9 seconds. Conclusions Web service–enabled, chatbot-oriented family health history collection and ontology-driven clinical practice guideline criteria risk assessment is a simple and effective method for automating hereditary cancer risk screening.

User experience of a family health history chatbot: A quantitative analysis

“…The development of this ontology-driven clinical practice guideline criteria risk assessment is published in a separate publication. 14 A risk analysis PDF report is emailed to participants who completed the ItRuns assessment. The report contains an Executive Summary, followed by a Guidelines section consisting of the hereditary cancer predisposition criteria the user meets and the published recommendations for cancer predisposition assessment they should follow.…”

Improving Care for Marginalized Populations at Risk for Hereditary Cancer Syndromes: Innovations that Expanded Reach in the CHARM Study

“…The utilization of remote approaches can further reduce barriers and improve reach to people for whom an in-person visit is not feasible given, e.g., employment, transportation, or family caregiving responsibilities. Other remote technologies, such as chatbots, can further augment genetic counseling to support communication about testing decisions or results disclosure, even when people have specific questions [27]. In the future, system-embedded approaches that do not rely on in person primary care visits have great potential to increase reach.…”

Comparison of a Cancer Family History Collection and Risk Assessment Tool – ItRunsInMyFamily – with Risk Assessment by Health-Care Professionals

“…ItRuns is an informatics tool that collects FHx using a chatbot and evaluates it using CPGs, ontologies, and web services [23, 24]. ItRuns has been used to collect and assess 4,915 patient-entered family histories of cancer [25].…”

“…Web technology such as ItRuns provides patients and providers easy access to FHx collection and evaluation to determine whether a patient meets the thresholds that warrant a referral for cancer genetic consultation [28, 29]. CPG criteria selected to implement in ItRuns were represented in an ontology-driven rule system and reviewed by a cancer genetic counselor and a clinical oncologist [24]. Technology-assisted FHx collection and risk assessment is a promising approach that identifies patients at risk for hereditary cancer who would otherwise potentially be missed.…”