Journal of Genetic Counseling

, Volume 19, Issue 4, pp 353–359

Building a Tool to Identify Risk for Lynch Syndrome Among Individuals Presenting for Screening Colonoscopy

  • Deborah Rabinowitz-Abrams
  • Debra Morgan
  • James Morse
  • Susan Miesfeldt
Original Research
  • 106 Downloads

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.

Keywords

Lynch syndrome Hereditary nonpolyposis colorectal cancer Cancer genetic risk assessment Risk criteria Screening population Colonoscopy 

References

  1. de la Chapelle, A. (2005). The incidence of Lynch syndrome. Familial Cancer, 4(3), 233–237.CrossRefPubMedGoogle Scholar
  2. 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.CrossRefPubMedGoogle Scholar
  3. 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.CrossRefPubMedGoogle Scholar
  4. 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.CrossRefPubMedGoogle Scholar
  5. 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.CrossRefPubMedGoogle Scholar
  6. 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.CrossRefPubMedGoogle Scholar
  7. 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.CrossRefPubMedGoogle Scholar
  8. 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.CrossRefPubMedGoogle Scholar
  9. 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.CrossRefPubMedGoogle Scholar
  10. 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.CrossRefPubMedGoogle Scholar
  11. 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.CrossRefPubMedGoogle Scholar
  12. 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.CrossRefPubMedGoogle Scholar
  13. 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.CrossRefPubMedGoogle Scholar

Copyright information

© National Society of Genetic Counselors, Inc. 2010

Authors and Affiliations

  • Deborah Rabinowitz-Abrams
    • 1
  • Debra Morgan
    • 3
  • James Morse
    • 4
  • Susan Miesfeldt
    • 2
    • 3
    • 5
  1. 1.Department of Internal MedicineMaine Medical Center (MMC)PortlandUSA
  2. 2.Maine Center for Cancer MedicineScarboroughUSA
  3. 3.MMC Research InstituteScarboroughUSA
  4. 4.Portland Gastroenterology CenterPortlandUSA
  5. 5.Maine Center for Cancer Medicine and Blood DisordersScarboroughUSA

Personalised recommendations