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[Preprint]. 2024 Jun 13:rs.3.rs-4469272. [Version 1] doi: 10.21203/rs.3.rs-4469272/v1

Figure 2. Tier 3 Case 3 Module.

Figure 2

In Case 3, learners are introduced to the patient, KP, who is an apparently healthy 16-year-old woman with no known medical or cardiovascular conditions. She was referred after her 19-year-old brother died suddenly due to an acute aortic dissection. The key findings of the case are presented, including the medical and family history, physical examination findings, and diagnostic test results. A quiz asks what next step is likely to change management and what genetic test may be most appropriate. The genetic testing results and an expanded pedigree are then presented. Prior to the appointment, the clinician consults with a laboratory genetic counselor who discusses the interpretation of the genetic test results. Learners interactively participate in a counseling session with the patient and her mother that contextualizes the meaning of the test results and the relevance of cascade testing to the family. The final quiz consists of several questions about follow up management, cascade testing, and variant interpretation utilizing data from ClinVar and ACMG guidelines.