Population screening to identify women at risk for hereditary breast cancer syndromes: The path forward or the road not taken?

Henderson, Vida; Ganschow, Pam; Wang, Catharine; Hoskins, Kent

doi:10.1002/cncr.33867

Cited by 2 publications

(1 citation statement)

References 26 publications

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“…27,28,30 Studies have found that such digital tools effectively identify at-risk patients who would have been overlooked. 25,27,30,[32][33][34][35] Importantly, patients report high levels of satisfaction with digital tools in genomics care. 20,27,33,[36][37][38] Thus, these digital tools show promise for helping increase access to guideline-recommended hereditary cancer risk assessment.…”

Section: Introductionmentioning

confidence: 99%

Validation of a guidelines-based digital tool to assess the need for germline cancer genetic testing

Russell,

Daley,

Van Arnem

et al. 2024

Preprint

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Purpose: Efficient and scalable solutions are needed to identify patients who qualify for germline cancer genetic testing. We evaluated the clinical validity of a brief, patient-administered hereditary cancer risk assessment digital tool programmed to assess if patients meet criteria for germline genetic testing, based on personal and family history, and in line with national guidelines. Methods: We applied the tool to cases seen in a nationwide telehealth genetic counseling practice. Validity of the tool was evaluated by comparing the tool's assessment to that of the genetic counselor who saw the patient. Patients' histories were extracted from genetic counselor-collected pedigrees and input into the tool by the research team to model how a patient would complete the tool. We also validated the tool's assessment of which specific aspects of the personal and family history met criteria for genetic testing. Results: Of the 152 cases (80% ((121/152)) female, mean age 52.3), 56% (85/152) had a personal history of cancer and 66% (99/152) met genetic testing criteria. The tool and genetic counselor agreed in 96% (146/152) of cases. Most disagreements (4/6; 67%) occurred because the GC's assessment relied on details the tool was not programmed to collect since patients typically don't have access to the relevant information (pathology details, risk models). We also found complete agreement between the tool and research team on which specific aspects of the patient's history met criteria for genetic testing. Conclusion: We observed a high level of agreement with genetic counselor assessments, affirming the tool's clinical validity in identifying individuals for hereditary cancer predisposition testing and its potential for increasing access to hereditary cancer risk assessment.

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