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Patient ethnicity and cascade genetic testing: a descriptive study of a publicly funded hereditary cancer program

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Abstract

Cascade genetic testing for hereditary cancer is highly accurate and cost-effective for identifying individuals at high risk for cancer; however, not all eligible people utilize this service. While sociodemographic factors related to the uptake of cascade genetic testing, such as age and sex, have been fairly well described in the literature, there is limited data available regarding patient ethnicity. We analyzed four years of testing data for this factor, as well as sex, age and genes tested. The patients were seen by the Hereditary Cancer Program of BC Cancer, which serves the entire population of British Columbia and Yukon, Canada. Patient ethnicity was compared to the 2016 Census data from the same region. Fisher’s exact test was conducted to explore the cascade genetic testing uptakes. Chi-square test was used to compare the major ethnicity groups to Census data. There was significant variability in the uptake of cascade genetic testing in the three largest population groups (p < 0.05), with individuals of European ethnic origin overrepresented, individuals of Asian ethnic origin modestly underrepresented, and individuals of North American Indigenous origin considerably underrepresented for cascade genetic testing. The proportions represented compared to those expected from census data were significantly different for these three largest groups (p < 0.01). The majority of cascade genetic tests were for BRCA1/BRCA2 (58.8%), followed by 16.9% for Lynch syndrome genes. Most patients were female (70%), and the mean age of patients was 49 years old. This study provides further insight into uptake of cascade genetic testing by patient ethnicity. Examining patient ethnicity and cascade genetic testing rates helps to identify underserved populations. Our analysis highlights significant underrepresentation of North American Indigenous individuals for hereditary cancer cascade genetic testing, and helps recognize the need for development of culturally-safe alternatives to outreach and service promotion.

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Data availability

This research study was conducted retrospectively from data obtained for clinical purposes. Data may be provided upon request in aggregate form only.

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No funding was received to assist with the preparation of this manuscript.

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Contributions

All authors contributed to the study conception and design. Material preparation and data collection were performed by EFB and ACB, analysis was performed by QH, EFB, and ACB. The first draft of the manuscript was written by EFB and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.

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Correspondence to Angela C. Bedard.

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The authors have no conflicts of interest to declare that are relevant to the content of this article.

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This research study was conducted retrospectively from data obtained for clinical purposes. This study was reviewed and approved by both the University of British Columbia/BC Cancer Research Ethics Board and Human Research Ethics Board of the University of Fraser Valley.

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This research study was conducted retrospectively from data obtained for clinical purposes. Individual consent was not collected.

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Braley, E.F., Bedard, A.C., Nuk, J. et al. Patient ethnicity and cascade genetic testing: a descriptive study of a publicly funded hereditary cancer program. Familial Cancer 21, 369–374 (2022). https://doi.org/10.1007/s10689-021-00270-0

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