Abstract
The goal of this work was to build and pilot-test a user-friendly Lynch syndrome risk assessment tool among individuals presenting for routine screening colonoscopy. Participants included adults presenting to a private practice-based, open-access endoscopy unit. Working with health literacy experts and gastroenterologists, and based on established criteria, we developed a simplified tool to assess Lynch syndrome risk, pre-procedure. A pilot-test of the tool assessed its: 1) clinical utility; 2) patient-reported usability; and 3) feasibility. The tool, in paper format, was written at a 9th grade reading level and included instructions for use followed by seven Lynch syndrome risk-related questions, structured such that one “Yes” response signified potential risk. A pilot-test of the tool among 334 patients revealed that 29 met criteria for Lynch syndrome risk. Of these, following telephone review of their responses, risk was confirmed in 9 patients (3% of total). The tool was reported as easy-to-use and was seen as feasible for use. Limitations include: 1) the need for infrastructure to distribute and collect the tool and 2) the availability of knowledgeable staff to review tool responses, confirm risk, and facilitate appropriate referral for genetic counseling. These data suggest that the tool affects assessment of Lynch syndrome risk among the routine colon cancer screening population.
Similar content being viewed by others
References
de la Chapelle, A. (2005). The incidence of Lynch syndrome. Familial Cancer, 4(3), 233–237.
Hampel, H., Frankel, W. L., Martin, E., et al. (2005). Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). New England Journal of Medicine, 352(18), 1851–1860.
Jarvinen, H. J., Aarnio, M., Mustonen, H., et al. (2000). Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology, 118(5), 829–834.
Kastrinos, F., Allen, J. I., Stockwell, D. H., et al. (2009). Development and validation of a colon cancer risk assessment tool for patients undergoing colonoscopy. American Journal of Gastroenterology, 104(6), 1508–1518.
Levin, B., Lieberman, D. A., McFarland, B., et al. (2008). Screening and surveillance for the early detection of colorectal cancer and adenomatous polyps, 2008: a joint guideline from the American Cancer Society, the US Multi-Society Task Force on Colorectal Cancer, and the American College of Radiology. Gastroenterology, 134(5), 1570–1595.
Nathanson, J. W., Zisman, T. L., Julian, C., McCaffrey, S., & Rubin, D. T. (2008). Identification of patients at increased risk for colorectal cancer in an open access endoscopy center. Journal of Clinical Gastroenterology, 42(9), 1025–1031.
Palomaki, G. E., McClain, M. R., Melillo, S., Hampel, H. L., & Thibodeau, S. N. (2009). EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome. Genetics in Medicine, 11(1), 42–65.
Rodriguez-Bigas, M. A., Boland, C. R., Hamilton, S. R., et al. (1997). A National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: meeting highlights and Bethesda guidelines. Journal of the National Cancer Institute, 89(23), 1758–1762.
Schmeler, K. M., Lynch, H. T., Chen, L. M., et al. (2006). Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome. The New England Journal of Medicine, 354(3), 261–269.
Stoffel, E. M., Garber, J. E., Grover, S., Russo, L., Johnson, J., & Syngal, S. (2003). Cancer surveillance is often inadequate in people at high risk for colorectal cancer. Journal of Medical Genetics, 40(5), e54.
Umar, A., Boland, C. R., Terdiman, J. P., et al. (2004). Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. Journal of the National Cancer Institute, 96(4), 261–268.
Vasen, H. F., Mecklin, J. P., Khan, P. M., & Lynch, H. T. (1991). The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Diseases of the Colon and Rectum, 34(5), 424–425.
Vasen, H. F., Watson, P., Mecklin, J. P., & Lynch, H. T. (1999). New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology, 116(6), 1453–1456.
Acknowledgements
We thank Nancy Selby, RN, staff of Portland Gastroenterology Center, and Mary Bitterauf, B.S., CHES from the MaineHealth Learning Resource Centers for their efforts related to this work. This study was supported by the Maine Cancer Foundation and the Maine Medical Center Research Institute.
Disclosures
The authors have no disclosures to report.
Author information
Authors and Affiliations
Corresponding author
Additional information
Grant funding
This work was funded by the Maine Cancer Foundation and the Maine Medical Center Research Institute.
Rights and permissions
About this article
Cite this article
Rabinowitz-Abrams, D., Morgan, D., Morse, J. et al. Building a Tool to Identify Risk for Lynch Syndrome Among Individuals Presenting for Screening Colonoscopy. J Genet Counsel 19, 353–359 (2010). https://doi.org/10.1007/s10897-010-9295-z
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10897-010-9295-z