Enhancing cancer risk identification through a digital genetic risk assessment tool.

Le résumé fourni par la source

456 Background: Many high-risk individuals for hereditary cancer are unaware of their risks and lack expert guidance. Digital tools can improve risk awareness and detection rates. Memorial Sloan Kettering Cancer Center (MSK) developed an online Genetic Risk Assessment (GRA) tool to assess hereditary cancer risk and streamline care. This study evaluates the GRA tool’s effectiveness in risk assessment and clinic workflow optimization. Methods: MSK's GRA tool uses a questionnaire and rules-based algorithm for personalized genetic recommendations. It collects demographics, personal and family cancer history, and prior genetic testing data using decision-tree logic for relevant questions. The algorithm aligns with National Comprehensive Cancer Network (NCCN) guidelines and MSK Clinical Genetics practices. Post-completion, patients receive a recommendation and can schedule appointments or receive genetic testing kits after review of educational materials and consent. Since its 2021 launch, the GRA was updated to align with NCCN guidelines and was rebuilt into Epic in 2/2025. The GRA is assigned to patients via an electronic health record order if referred internally or at the discretion of the Clinical Genetics Service and is completed through the patient portal. It is also available to the public through MSK’s website. A retrospective analysis of GRA data from 7/2021 to 3/2025 examined monthly completions and outcome distributions. Results: The table shows outcomes and recommendations pre and post-Epic implementation. Patients in the "Direct-to-Test" (DTT) category saved one clinic visit, enhancing efficiency. Conclusions: The GRA tool effectively triages patients and optimizes genetic counselor resources while reducing unnecessary appointments. As genetic testing criteria for cancer predisposition continues to expand, this digital tool allows for efficient and scalable identification of high-risk individuals for genetic testing. The successful Epic integration highlights its potential for general use. GRA outcomes Description Next steps Pre-Epic (July 2021 – January 2025) Post-Epic (February 2025 – March 2025) Direct-to-Test (DTT) Patients that meet criteria for genetic testing Patient receives educational materials, provides consent, and undergoes genetic testing through a blood test or a saliva kit mailed to their home. Once test is finalized, a post-test visit is scheduled 2,236 (23%) 442 (31%) Clinical review required Patients may meet criteria for care but need further review May require further evaluation. Schedule appointment with GC 4,557 (34%) 179 (12%) Pre-test appointment automatically scheduled Patients that require further genetic evaluation Schedule pre-test appointment with GC and MD 1,706 (18%) 314 (22%) Post-test new visit appointment Patients with prior genetic testing performed Schedule appointment with GC and MD for test result review and discussion 1,210 (12%) 506 (35%)

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.