Universal tumor screening for Lynch syndrome: perspectives of Canadian pathologists and genetic counselors
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ORIGINAL ARTICLE
Universal tumor screening for Lynch syndrome: perspectives of Canadian pathologists and genetic counselors Elizabeth Dicks 1 & Daryl Pullman 1 & Ken Kao 1,2 & Andrée MacMillan 3 & Charlene Simmonds 1 & Holly Etchegary 1 Received: 9 April 2018 / Accepted: 13 November 2018 # Springer-Verlag GmbH Germany, part of Springer Nature 2018
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. Keywords Lynch syndrome . Universal tumor screening . Colorectal . Informed consent . Survey
Introduction Lynch syndrome (LS), a genetic syndrome associated with an increased risk of colorectal (CRC), endometrial, and other cancers, accounts for 3–5% of all CRC cases, making it the most common form of hereditary CRC (Hampel et al. 2006; Lynch et al. 2009; Moreira et al. 2012; Weissman et al. 2011). Men with LS have an average lifetime risk for CRC of 54– 74%; the comparable risk for women is 30–52%. Women with LS also have a 31–66% lifetime risk for endometrial cancer (Barrow et al. 2008; Stoffel et al. 2009; Watson et al. 2008). CRC is the second most common cancer in Canada, account-
* Holly Etchegary [email protected] 1
Faculty of Medicine, Memorial University, St. John’s, NL, Canada
2
Immunohistochemistry Laboratory, Eastern Regional Health Authority, St. John’s, NL, Canada
3
Provincial Medical Genetics Program, Eastern Regional Health Authority, St. John’s, NL, Canada
ing for 13% of all cancers in 2017 (Canadian Cancer Society 2017). The incidence of CRC is highest in Newfoundland and Labrador (NL); further, the province has the highest rate of familial CRC in the world (i.e., families with high CRC burden, but often without a known mutation) (Woods et al. 2010). Identifying indiv
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