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• W2891496091 abstract "6516 Background: Historically, hereditary cancer genetic testing has been much more prevalent among women, in part due to gender-specific cancer risks associated with Hereditary Breast and Ovarian Cancer Syndrome (HBOC). Despite expanded genetic testing that includes hereditary cancer syndromes that affect both men and women, the gender gap still persists. Here we report on gender ascertainment bias in hereditary cancer testing by evaluating the proportion of test cancellations in men and women who were not affected with cancer at the time of testing. Methods: A commercial testing cohort was queried to identify individuals for whom genetic testing with a multi-gene pan-cancer panel was ordered between September 2013 and December 2016. Individuals who were ascertained for testing based on a clinical suspicion of HBOC or Lynch syndrome (LS) and did not have cancer at the time of testing were included. Test cancellations (i.e. a test order that did not yield any reported result) due to lack of insurance coverage were assessed, as this is directly related to clinical testing criteria. Results: Genetic testing was ordered for 259,919 individuals who did not have cancer at the time of testing, which included 6007 men (2.3%) and 253,912 women (97.7%). Overall, 21.2% of tests ordered for men were cancelled due to lack of insurance coverage, which is significantly higher than the cancellation rate among women (14.4%, p < 0.001). This trend was observed among individuals tested for suspicion of HBOC (18.7% for men vs. 13.2% for women; p < 0.001), but not for those tested for LS (26.6% for men vs. 25.1% for women; p = 0.137). Among those whose tests were not cancelled, the positive mutation rate was twice as high for men compared to women (9.6% vs 4.6%, respectively; p < 0.001). Conclusions: In this analysis, the proportion of genetic tests ordered was substantially biased towards women. Cancellation rates for men were significantly higher compared to women, while the mutation positive rate was twice as high. Although men and women who are unaffected with cancer have an equal probability of having a family cancer history that meets HBOC testing criteria, the data presented here suggests that there is a higher clinical standard for men to receive genetic testing." @default.
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• W2891496091 date "2017-05-20" @default.
• W2891496091 modified "2023-10-01" @default.
• W2891496091 title "Quantifying gender ascertainment bias in hereditary cancer testing." @default.
• W2891496091 doi "https://doi.org/10.1200/jco.2017.35.15_suppl.6516" @default.
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