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The Effect of Patient Uncertainty in Family History on Genetic Testing Recommendations for Hereditary Cancer Syndromes

Cancer Genetics and Therapeutics
  • Primary Categories:
    • Cancer
  • Secondary Categories:
    • Cancer
Introduction:
Around 5-10% of cancers are associated with a hereditary cancer syndrome, meaning that patients are born with a germline variant in a specific gene that predisposes them to cancer risk. Those individuals with hereditary risk of developing cancer are offered increased screening and risk reduction options to manage their risk of cancer. For this reason, it is important to identify families with hereditary risk. The National Comprehensive Cancer Network (NCCN) provides criteria based on a patient’s personal and family history of cancer for who should be offered hereditary cancer testing. Therefore, patient uncertainty of family history may complicate the ability to accurately assess risk and determine the most appropriate medical management. Thus, this study sought to measure uncertainty about family history of cancer in a diverse population to evaluate whether uncertainty regarding one’s family history of cancer affects hereditary cancer testing recommendations and outcomes.

Methods:
This study was a retrospective chart review of all patients for an initial consultation at the University of Illinois Hereditary Cancer Clinic from 2020 to 2022. Patients under eighteen were excluded. Review of charts captured demographic data, personal history of cancer, 4 generation family histories, whether NCCN criteria were met for hereditary cancer testing, whether testing was offered, whether testing was completed, and results of testing. Uncertainty of family history of cancer was sorted into categories: uncertain, somewhat uncertain, and known family history of cancer. Continuous variables were compared using the Kruskal-Wallis rank test. Categorical variables were analyzed using the Pearson Chi-square test or logistic regression, where appropriate.

Results:
Among 566 patients included, most patients were female (85%), the average age was 46.4 (SD 14.6), and 221(34%) patients had a personal history of cancer. Of the total cohort, 44% (252) were Black or African American, 36.6% (208) were White, 3.4% (19) were Asian, 2.3% were American Indian/Alaskan Native, and 9% (51) self-identified as other race. About a third (29.4%) of patients reported they were Hispanic. Overall, 100% of patients knew at least some information about their maternal family history, whereas 5% of patients had an unknown paternal family history. For cancer history in second degree paternal relatives, 10% of patients were uncertain and 21.5% somewhat uncertain. For cancer history in second degree maternal relatives, 4% of patients were uncertain and 17% somewhat uncertain. Patients were most certain when reporting maternal history of cancer and siblings’ history of cancer and this certainty was associated with a greater likelihood of meeting NCCN criteria (OR = 1.98, 2.06, respectively). This association was more pronounced in unaffected patients (OR = 2.06, 3.00, respectively). In total, 86% (488) of the cohort met NCCN criteria for germline testing, 93.5% (531) were offered testing, and 79.4% (451) completed testing. Personal history of cancer (OR = 2.1) and older age (OR = 1.03) were also significantly associated with meeting NCCN criteria, after adjusting for sex, race, ethnicity, and insurance type.

Conclusion:
The diverse patient population in this study had more uncertainty in paternal family history as compared to maternal family history. Increased certainty of both maternal and sibling history was strongly indicative of meeting NCCN criteria, a trend that was even more remarkable in individuals without personal cancer diagnoses. This suggests that knowledge of family history is valuable for those who are not personally affected by cancer so that germline testing can be adequately recommended for those at high risk before onset of cancer diagnosis. While most patients in the cohort did ultimately meet NCCN criteria, it may be in part due to ascertainment bias since all patients were referred to high risk genetics clinic.

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