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


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.


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


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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

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