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. 2012 Jan;14(1):152-62.
doi: 10.1038/gim.0b013e31823375ea. Epub 2011 Oct 27.

Implementing screening for Lynch syndrome among patients with newly diagnosed colorectal cancer: summary of a public health/clinical collaborative meeting

Cecelia A Bellcross  1 , Sara R Bedrosian, Elvan Daniels, Debra Duquette, Heather Hampel, Kory Jasperson, Djenaba A Joseph, Celia Kaye, Ira Lubin, Laurence J Meyer, Michele Reyes, Maren T Scheuner, Sheri D Schully, Leigha Senter, Sherri L Stewart, Jeanette St Pierre, Judith Westman, Paul Wise, Vincent W Yang, Muin J Khoury
Affiliations

Implementing screening for Lynch syndrome among patients with newly diagnosed colorectal cancer: summary of a public health/clinical collaborative meeting

Cecelia A Bellcross et al. Genet Med. 2012 Jan.

Abstract

Lynch syndrome is the most common cause of inherited colorectal cancer, accounting for approximately 3% of all colorectal cancer cases in the United States. In 2009, an evidence-based review process conducted by the independent Evaluation of Genomic Applications in Practice and Prevention Working Group resulted in a recommendation to offer genetic testing for Lynch syndrome to all individuals with newly diagnosed colorectal cancer, with the intent of reducing morbidity and mortality in family members. To explore issues surrounding implementation of this recommendation, the Centers for Disease Control and Prevention convened a multidisciplinary working group meeting in September 2010. This article reviews background information regarding screening for Lynch syndrome and summarizes existing clinical paradigms, potential implementation strategies, and conclusions which emerged from the meeting. It was recognized that widespread implementation will present substantial challenges, and additional data from pilot studies will be needed. However, evidence of feasibility and population health benefits and the advantages of considering a public health approach were acknowledged. Lynch syndrome can potentially serve as a model to facilitate the development and implementation of population-level programs for evidence-based genomic medicine applications involving follow-up testing of at-risk relatives. Such endeavors will require multilevel and multidisciplinary approaches building on collaborative public health and clinical partnerships.

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Conflict of interest statement

DISCLOSURE

Heather Hampel, MS, has received an honorarium from Myriad Genetic Laboratories, Inc. to serve on a Lynch syndrome Advisory Panel. The other authors declare no conflict of interest.

The findings and conclusions in this report are those of the authors and do not necessarily represent the official position of the Centers for Disease Control and Prevention or the National Cancer Institute.

Figures

Figure 1
Figure 1. Potential population health impact of universal screening for Lynch syndrome
CRC, colorectal cancer; EC, endometrial cancer; LS, Lynch syndrome.
Figure 2
Figure 2. The Ohio State University—clinical Lynch syndrome screening strategy: follow-up of IHC testing on all colorectal cancers
IHC, immunohistochemistry; MSI, microsatellite instability. aReferral to genetic counseling if warranted by clinical or family history.
Figure 3
Figure 3. Huntsman Cancer Institute—routine testing strategy for Lynch syndrome
IHC, immunohistochemistry. aPatients usually seen during surgical follow-up appointment.
See this image and copyright information in PMC

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