Familial Cancer

, Volume 16, Issue 3, pp 377–387 | Cite as

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

  • Jessica Ezzell HunterEmail author
  • Kathleen A. Arnold
  • Jennifer E. Cook
  • Jamilyn Zepp
  • Marian J. Gilmore
  • Alan F. Rope
  • James V. Davis
  • Kellene M. Bergen
  • Elizabeth Esterberg
  • Kristin R. Muessig
  • Susan K. Peterson
  • Sapna Syngal
  • Louise Acheson
  • Georgia Wiesner
  • Jacob Reiss
  • Katrina A. B. Goddard
Original Article


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.


Lynch syndrome HNPCC Colorectal cancer Genetic screening Genetic testing Microsatellite instability 



The authors would like to thank Elizabeth Hess for her editorial support as well as all participants who made this work possible.


This work was supported through a grant by the National Institute of Health: 5R01CA140377 (Goddard).

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed consent

Informed consent was obtained from all individual participants included in this study.


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Copyright information

© Springer Science+Business Media Dordrecht 2017

Authors and Affiliations

  • Jessica Ezzell Hunter
    • 1
    Email author
  • Kathleen A. Arnold
    • 1
  • Jennifer E. Cook
    • 1
  • Jamilyn Zepp
    • 1
  • Marian J. Gilmore
    • 1
  • Alan F. Rope
    • 1
  • James V. Davis
    • 1
  • Kellene M. Bergen
    • 1
  • Elizabeth Esterberg
    • 1
  • Kristin R. Muessig
    • 1
  • Susan K. Peterson
    • 2
  • Sapna Syngal
    • 3
  • Louise Acheson
    • 4
  • Georgia Wiesner
    • 5
  • Jacob Reiss
    • 1
  • Katrina A. B. Goddard
    • 1
  1. 1.Center for Health Research, Kaiser Permanente NorthwestPortlandUSA
  2. 2.Department of Behavioral ScienceThe University of Texas MD Anderson Cancer CenterHoustonUSA
  3. 3.Dana-Farber Cancer InstituteBrigham and Women’s Hospital, Harvard Medical SchoolBostonUSA
  4. 4.Departments of Family Medicine and Community Health, Reproductive Biology, and OncologyCase Western Reserve UniversityClevelandUSA
  5. 5.Vanderbilt Hereditary Cancer Program, Department of Medicine, Vanderbilt-Ingram Cancer CenterVanderbilt UniversityNashvilleUSA

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