Scenario Format Sample Scenario

! Scenario Format Sample Scenario Scenario #: 1 Scenario #: Scenario number (start at #1 for each institution) Institution: Columbia University Institution: Institution name Name: Unaffected patient with family history of breast cancer and BRCA Name: The scenario name is a summary of the scenario itself positive result 1 ,2 1 Content experts: Include name, degree and institution affiliation. The content experts Content experts: Carrie Koval, MS , Wendy Chung, MD, PHD . New York Presbyterian 2 included should be domain experts who contribute significantly to the intellectual content of Hospital; Departments of Pediatrics and Medicine, Columbia University the scenario. Medical Center, New York, NY 1 1 Other content contributors: Include name, degree and institution affiliation. The other Other content contributors: Casey Overby, PHD . Department of Biomedical content contributors included should be those who contribute significantly to the intellectual Informatics, Columbia University Medical Center, New York, content of the scenario but who are not domain experts. NY Relevance and importance: Describe the context of the scenario and explain its relevance Relevance and importance: Breast cancer is a common cancer. It is estimated that 5-10% of and importance. all breast cancers are due to mutations in single genes. Hereditary breast-ovarian cancer is an autosomal dominant disorder due to mutations in BRCA1/BRCA2 that predisposes to User Role: Role in the scenario predominantly early onset breast cancer and/or ovarian cancer. The lifetime risks for breast cancer are estimated to be 50-85% and for ovarian cancer are 15-45%. Context: Context of the scenario (e.g., reviewing laboratory results, ordering a medication) User Role: You are the patient’s clinical care provider Objective: The goal the scenario demonstrates Context: You are reviewing BRCA test results in the EHR Scenario description: Follow the basic rules of medical communication. Report the case and actions taken in sequence. Objective: You want to counsel an unaffected 60-year-old Dominican woman with a family • Describe the history, examination, investigations, patient motivations, and discussions history of breast cancer and an identified BRCA2 mutation who undergoes BRCA2 genetic occurring during the visit adequately. testing and is found to have a BRCA2 positive result. • Describe the desired objectives (e.g., clinical decisions) adequately. Scenario description: A 60 year old woman of Dominican descent is seen for cancer genetic counseling due to her family history of a BRCA2 mutation found in her sister. She is interested in having her risk ascertained so she can plan appropriate management and prevention strategies. The patient reports she gets annual screening mammograms with no abnormalities seen to date. The patient reports two sisters, both affected by breast cancer. Your initial risk assessment indicates that the chance she will be positive for the BRCA2 mutation is 50%. The two of you discuss the benefits, risks, and limitations of genetic testing for the familial BRCA2 mutation. You also discuss with the patient her motivations for testing, cancer risks in mutation carriers, autosomal dominant inheritance, options for management, and her anticipated decisions if she were found to be positive for a mutation. Following these discussions, the patients’ final decision was to undergo BRCA2 genetic testing. Genetic test results indicated that a deleterious mutation was found in the BRCA2 eMERGE EHR integration WG gene. You want to counsel this patient on the meaning of this genetic mutation, Infobutton project associated cancer risks, and provide recommendations. Last updated by CLO 6/7/13 .

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