Universal Screen for Lynch Syndrome in an Integrated Health Care System: Assessment of Patient Perspectives and Sharing Results With At-Risk Relatives

• Published in: Journal of Patient-Centered Research and Reviews Vol. 3; no. 3; p. 192
• Main Authors: Peterson, Susan K, Wiesner, Georgia L, Reiss, Jacob A, Goddard, Katrina A.B, Muessig, Kristin R, Hunter, Jessica Ezzell, Davis, James V, Zepp, Jamilyn M, Bergen, Kellene M, Acheson, Louise S, Syngal, Sapna
• Format: Journal Article
• Language: English
• Published: Aurora Health Care, Inc 15-08-2016
• Subjects: Supplement
• ISSN: 2330-0698; 2330-0698
• DOI: 10.17294/2330-0698.1328

Background/Aims: Lynch syndrome (LS) is the most common cause of hereditary colorectal cancer (CRC). Evidence-based recommendations promote universal tumor screening for LS among all new cases of CRC over selective screening based on family history or age of diagnosis. Maximal reduction in morbidity and mortality from universal tumor screening depends on patients with a positive screen following up with genetic counseling and testing to confirm a diagnosis of LS and sharing results with at-risk relatives.
Methods: Participants included 165 Kaiser Permanente Northwest members aged 39 to 91 years who had undergone surgery for CRC. Tumor samples were screened for microsatellite instability and participants surveyed before and after receiving screening results to assess perspectives on screening and sharing results with at-risk relatives.
Results: Most patients reported no family history of CRC; 14.1% had a first-degree relative and 7.4% had a second- or third-degree relative with CRC. However, most (93%) wanted to know their risk for hereditary CRC. Overall, most patients endorsed potential benefits and few barriers to screening, though 62% indicated a worry about the cost of additional testing and surveillance. Before receiving screening results, most patients indicated they would likely share their result with their parents (90%), siblings (96%) and children (97%), where applicable. Of the 25 patients with a positive microsatellite instability screen, 96.0% reported they shared their results with at least one relative. Most patients endorsed motivations to share results, namely: so family members could act to reduce their risk of CRC (76%) and it was their responsibility to let family members know they might be at higher risk of CRC (68%). None of the patients indicated that strained family relationships would prevent them from sharing results, and few indicated that they would not share their results because it would worry relative(s) (8%) or because discussing their results could hurt relationship(s) (4%).
Conclusion: Given universal tumor screening will target all new cases of CRC, it is important to understand motivations among patients not identified via high-risk factors such as family history or age of diagnosis. These findings provide insight into patient attitudes and perspectives toward LS screening to guide successful implementation of screening programs.