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. 2017 Jul;16(3):377-387.
doi: 10.1007/s10689-017-9972-2.

Universal screening for Lynch syndrome among patients with colorectal cancer: patient perspectives on screening and sharing results with at-risk relatives

Jessica Ezzell Hunter  1 , Kathleen A Arnold  2 , Jennifer E Cook  2 , Jamilyn Zepp  2 , Marian J Gilmore  2 , Alan F Rope  2 , James V Davis  2 , Kellene M Bergen  2 , Elizabeth Esterberg  2 , Kristin R Muessig  2 , Susan K Peterson  3 , Sapna Syngal  4 , Louise Acheson  5 , Georgia Wiesner  6 , Jacob Reiss  2 , Katrina A B Goddard  2
Affiliations

Universal screening for Lynch syndrome among patients with colorectal cancer: patient perspectives on screening and sharing results with at-risk relatives

Jessica Ezzell Hunter et al. Fam Cancer. 2017 Jul.

Abstract

Universal screening for Lynch syndrome (LS) among all cases of colorectal cancer (CRC) could increase the diagnosis of LS and reduce morbidity and mortality of LS-associated cancers. Given universal screening includes all patients, irrespective of high risk factors such early age at onset or family history of CRC, it is important to understand perspectives of all patients and not just those at high risk. As part of a study to assess the feasibility and implementation of universal screening, 189 patients newly diagnosed with CRC were surveyed about their interest in screening for LS and communication of results with at-risk family members. Overall, participants responded positively regarding screening for LS, with most wanting to know their genetic risks in general (86%) and risk of hereditary CRC (93%). Prior to receiving screening results, most participants stated they intended to share their screening results with parents (89%), siblings (96%), and children (96%). Of the 28 participants who received a positive LS screening result, 26 (93%) reported sharing their result with at least one first-degree family member. Interest in screening for LS and communication of screening results with family members was not associated with high risk factors. This study indicates that patients are interested in being screened for LS and that sharing information on the risk of LS with at-risk family members is not a significant barrier. These findings provide novel insight into patient perspectives about screening for LS and can guide successful implementation of universal screening programs.

Keywords: Colorectal cancer; Genetic screening; Genetic testing; HNPCC; Lynch syndrome; Microsatellite instability.

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Conflict of interest statement

CONFLICT OF INTEREST

The authors declare that they have no conflict of interest.

Figures

Figure 1
Figure 1
Study workflow CRC=Colorectal cancer; MSI-H=MSI high result; MSI-S=MSI stable result; MLH1-HM=MLH1 hypermethylation; LS=Lynch syndrome
Figure 2
Figure 2
Patient attitudes on genetic screening
Figure 3
Figure 3
Patients’ intention to share results with family members *When applicable
Figure 4
Figure 4
Sharing results with family members by participants with an MSI-H result with responses for the 6 cases of LS indicated in parentheses *When applicable
Figure 5
Figure 5
Reasons for sharing results with family members
Figure 6
Figure 6
Reasons for not sharing results with family members
See this image and copyright information in PMC

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