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Universal tumor screening for Lynch syndrome: perspectives of Canadian pathologists and genetic counselors

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Abstract

Universal screening of all newly diagnosed colorectal cancer tumors can identify individuals at high risk for Lynch syndrome (LS), a hereditary cancer syndrome predisposing carriers to increased risk of colorectal, endometrial, and other cancers. To inform planning of a universal tumor screening program for LS in our jurisdiction, we undertook online surveys of Canadian pathologists and genetic counselors to describe existing tumor screening programs. Online surveys were hosted on SurveyMonkey between October 2016 and March 2017. Fifty-three pathologists and 66 genetic counselors completed surveys (total n = 119). While attitudes towards tumor screening were positive, considerable variability was observed in the existence of tumor screening, test ordering criteria, and practices. Most respondents indicated consent was not obtained for tumor screening nor were educational materials provided to patients; however, opting out of additional mutation testing in the event of a positive tumor screen was endorsed. Results add to the growing literature on providers’ perspectives on population-based tumor screening programs and inform ways to offer these. Findings highlight the need to develop methods of patient education that allow meaningful opt-out decisions. The variability we observed also suggests the need for national standards and guidance on tumor screening for LS.

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Acknowledgements

We are grateful to respondents who completed surveys and to Nic Fairbridge of the Health Research Unit, Memorial University, for assistance with data analysis.

Funding

Funding for this project was provided through a grant to Etchegary from the Dean’s Innovation Fund, Faculty of Medicine, Memorial University.

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Authors and Affiliations

  1. Faculty of Medicine, Memorial University, St. John’s, NL, Canada

    Elizabeth Dicks, Daryl Pullman, Ken Kao, Charlene Simmonds & Holly Etchegary

  2. Immunohistochemistry Laboratory, Eastern Regional Health Authority, St. John’s, NL, Canada

    Ken Kao

  3. Provincial Medical Genetics Program, Eastern Regional Health Authority, St. John’s, NL, Canada

    Andrée MacMillan

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  1. Elizabeth Dicks
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  2. Daryl Pullman
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  3. Ken Kao
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  4. Andrée MacMillan
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  5. Charlene Simmonds
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  6. Holly Etchegary
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Correspondence to Holly Etchegary.

Ethics declarations

Ethics approval was obtained from the Health Research Ethics Board (Ref No. 16.062), St. John’s, NL, Canada. All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (Canadian Cancer Society 2017). Informed consent was obtained from all patients for being included in the study.

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The authors declare that they have no conflict of interest.

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Dicks, E., Pullman, D., Kao, K. et al. Universal tumor screening for Lynch syndrome: perspectives of Canadian pathologists and genetic counselors. J Community Genet 10, 335–344 (2019). https://doi.org/10.1007/s12687-018-0398-9

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  • DOI: https://doi.org/10.1007/s12687-018-0398-9

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