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To ask or not to ask? Data-driven decisions on history questions included in a digital tool to screen for need for cancer genetic testing

Poster presented at the 2021 National Society of Genetic Counselors Annual Conference




Authors: Callan Russell, Ashley V. Daley, Kiley Johnson, Durand Van Arnem, Jill Davies, Mark Sylvester, Colleen Caleshu

Background: Patient-administered digital tools can help identify individuals in need of cancer genetic testing. To ensure such tools are brief, patient friendly, and reliable, decisions must be made about what history questions to include. In developing such a tool, we sought data on the value of including questions about family history of metastatic prostate cancer and triple-negative breast cancer at or prior to age 60.

Aim: To determine how often a family history of metastatic prostate cancer or triple-negative breast cancer is critical to guideline-based assessments of the need for cancer genetic testing.

Methods: Retrospective chart review of pedigrees from consecutive pre-test oncology cases from our telehealth genetic counseling practice. Cases were evaluated to see if they met criteria based on a family history of triple-negative breast cancer or metastatic prostate cancer. All pedigrees meeting criteria based on such history were then assessed to see if they met criteria by other means.

Results: 7/759 (0.9%) consecutive pre-test oncology pedigrees met genetic testing criteria due to having a relative with triple-negative breast cancer. Nearly all of these cases (6/7 (86%)) met genetic testing criteria in other ways. This suggests that by not asking about family history of triple-negative breast cancer, only 1/759 (0.1%) of these cases would have been inappropriately categorized as not needing genetic testing. 38/759 (5.0%) of pedigrees met criteria based on a family history of metastatic prostate cancer. Of those cases, 16/38 (42%) only met criteria because of the family history of metastatic prostate cancer. This suggests that 16/759 (2.1%) of cases would not be identified as needing genetic testing if questions about a family history of metastatic prostate cancer were not included in the tool.

Conclusions: Assessment of family history of metastatic prostate cancer would likely make a meaningful impact on the sensitivity of a digital hereditary cancer risk assessment tool. In addition, the frequency of pedigrees meeting criteria based on this history suggest patients are capable of reporting such history. In contrast, family history of triple-negative breast cancer seems less critical for tool sensitivity and may be less easily reportable by patients.



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