Validation of a guidelines-based brief patient-administered digital tool to assess the need for germline genetic testing.
Authors: Russell Callan , Daley Ashley , Van Arnem Durand , Hila Andi , Johnson Kiley , Davies Jill , Caleshu Colleen 
Published: June 2023

10605

Background: Scalable and reliable approaches are needed to assist non-genetics clinicians in assessing whether a patient meets criteria for germline genetic testing. Insurance coverage of genetic testing often depends on such assessments. RISE Risk Assessment Module: Hereditary Cancer is a brief patient-administered digital tool designed for this purpose. The tool’s assessment is based on personal and family history and is informed by national guidelines. The aim of this study was to assess the clinical validity of this digital tool by evaluating its agreement with assessments made by genetic counselors. Methods: We performed a chart review of cases from a telehealth genetic counseling practice seen July to October 2020. Extracted history was entered into the tool by the research team to model how a patient would complete the digital tool. The tool’s assessment of whether the patient met criteria for genetic testing was compared to the assessment of the genetic counselor who saw the patient. To further validate the tool, a subset of cases were analyzed for agreement between the tool and research team on which specific history-based rules in the tool’s algorithm applied for a given case. Results: The majority (121/152; 80%) of cases were female and the mean age was 52.3 (SD 15.9). Just over half of cases (85/152; 56%) had a personal history of cancer, including breast (27/85; 32%), colon (15/85; 18%), prostate (10/85; 12%), endometrial (12/85; 14%), and ovarian (7/85; 8%). 100/152 (66%) of cases met criteria for genetic testing. In 146/152 (96%) cases there was agreement between the assessments made by the tool and the genetic counselor regarding whether the patient met criteria for germline genetic testing. Nearly all disagreement (4/6; 67%) resulted from history intentionally left out of the tool as patients can rarely report them (aspects of tumor pathology 3/4; risk of having a pathogenic variant based on predictive models 1/4). For a subset of cases (62/152) we compared the tool and research team’s assessments of which aspects of the patient’s personal and family history met criteria for genetic testing. This was done by looking at which rules in the tool’s algorithm were triggered by the patient’s history. There was complete agreement between the tool and research team on which rules should be triggered. Completion of the tool took a mean of 3.3 minutes. Conclusions: The high level of agreement between the digital tool and genetic counselors supports RISE Risk Assessment Module: Hereditary Cancer as a clinically valid method of identifying individuals in need of evaluation for hereditary cancer predisposition. Complete agreement on which history-based rules applied in these cases further supports the clinical validity of the tool. Our results also suggest that the tool’s assessment can be delivered in under 5 minutes, which is critical to feasibility and scalability of the digital tool.