Implementation of routine screening for Lynch syndrome in university and safety-net health system settings: successes and challenges

Evelyn Marquez MD,^ff1

Zhuo Geng BA,^ff2

Sarah Pass BS,^ff3

Pia Summerour MS, CGC,^ff4

Linda Robinson MS, CGC,^ff4

Venetia Sarode MD^ff5

& Samir Gupta MD, MSCS^{ff6, ff7, ff8}

Affiliations

Corresponding author

Journal name:: Genetics in Medicine; (2013)
DOI:: doi:10.1038/gim.2013.45

Received: 13 December 2012
Accepted: 05 March 2013
Published online: 18 April 2013

Abstract

Purpose:

Routine screening for evidence of DNA mismatch repair abnormalities can identify colorectal cancer patients with Lynch syndrome, but impact in usual care settings requires study. After implementing routine screening at our university and safety-net health systems as usual practice, our aims were to determine outcomes, including screening process quality.

Methods:

We conducted a retrospective cohort study from 1 May 2010 to 1 May 2011. Screening included reflexive immunohistochemistry to evaluate DNA mismatch repair protein expression for patients with colorectal cancer aged ≤70 years, with a cancer genetics team following up results. Screening outcomes, as well as challenges to a high-quality screening process were evaluated.

Results:

We included 129 patients (mean age 56 years, 36% female); 100 had immunohistochemistry screening completed. Twelve patients had abnormal immunohistochemistry: four with definite Lynch syndrome, four with probable Lynch syndrome, and three without Lynch syndrome; one patient had an incomplete work-up. Lynch syndrome was confirmed for 6/13 asymptomatic relatives tested. Screening process quality was optimal for 77.5% of patients. Barriers to optimal quality screening included ensuring reflexive immunohistochemistry completion, complete follow-up of abnormal immunohistochemistry, and timely incorporation of results into clinical decision making.

Conclusion:

Usual care implementation of routine screening for Lynch syndrome can result in significant rates of detection, even in a largely safety-net setting. To optimize implementation, challenges to high-quality Lynch syndrome screening, such as ensuring reflexive screening completion and clinically indicated genetic testing and follow-up for abnormal screens, must be identified and addressed.

Genet Med advance online publication 18 April 2013

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