P531: Assessment of pancreatic cancer screening practices among high-risk individuals: Opportunities to promote adherence

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Authors: Jacqueline Neminski, Rachael Brandt, Lexi Ebel, Vanessa Purr, Terri W. McHugh
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Abstract

Introduction: Early detection of pathogenic variants in CDC Tier 1 genes can reduce morbidity and mortality associated with hereditary breast and ovarian cancer syndrome (HBOC), Lynch syndrome (LS), and familial hypercholesterolemia (FH).Although universal genetic screening for these variants is becoming more common nationwide, uptake of genetic testing has been slow and many at-risk patients remain unidentified.The efficiency of genetic screening could be improved by prioritizing patients with a family history (FHx) indicating increased risk.Unfortunately, providers often lack the time to assess FHx, and existing FHx in electronic health records (EHR) is often incomplete.A possible solution is to use simple, direct-to-patient questionnaires to collect FHx without provider involvement.Methods: To assess the practicality of direct-to-patient questionnaires for prioritizing patients for genetic testing, patients and their family members visiting a family medicine clinic were offered either a seven-question Family History Screening (FHS7) questionnaire assessing their risk for HBOC or a five-question modified questionnaire that included questions about personal history and that assessed risk for HBOC, LS, and FH.For the FHS7 questionnaire, one affirmative response indicated increased risk (FHS7+).Patient responses were matched to their EHR to obtain demographic information and to compare their responses with existing FHx information.Results: Among 258 respondents to the FHS7 questionnaire, 171 (65.5%) were female and 103 (39.9%) were FHS7+.Among 260 respondents to the modified questionnaire, 169 (65.0%) were female and 135 (51.9%) responded affirmatively to at least one question.The median age of respondents was 47.1 years (interquartile range [IQR]: 35.5-62.6)for the FHS7 questionnaire and 47.0 years (IQR: 33.4-59.7)for the modified questionnaire.Among 3 patients who inadvertently responded to the FHS7 questionnaire twice, responses differed for all patients, while among 6 patients who inadvertently responded to the modified questionnaire twice, responses differed for 2 patients.Among the 103 FHS7+ and 155 FHS7-negative patients, 18 (17.5%)and 0 (0.0%), respectively, had FHx in their EHR indicating they were FHS7+.The FHS7 question most frequently answered affirmatively was, "Did any woman in your family have breast and ovarian cancer?", with 58 (22.5%) responding "Yes."Excluding this question reduced the number of FHS7+ to 92 (35.7%). Conclusion:The high positive response rates for both questionnaires indicate that they may not be useful screening tools in a resource-constrained context, since 39.9% of FHS7 respondents and more than 50% of modified questionnaire respondents would have been recommended for genetic counseling and/or CDCT1 screening.Patients may have found some questions confusing, as responses were inconsistent when questionnaires were repeated and more than 1 out of 5 reported a relative with a history of both breast and ovarian cancer, an implausibly high rate given known rates of cancer.However, excluding that question still resulted in an overall FHS7+ rate of 35.7%.Considering that at least one other study reported a similar positive rate for a direct-to-patient FHS7 questionnaire, such questionnaires may not be suitable for screening, and it may be more effective to implement universal genetic screening.We plan to recontact FHS7+ respondents to assess the accuracy of their responses.

Fields of Study & Subjects

BRCA gene mutations in cancer Pancreatic and Hepatic Oncology Research Genetic factors in colorectal cancer

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104023–104023
Publication date
1 January 2026
Language
EN