genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives - EGAPPWG

Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives

Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group*

Disclaimer: This recommendation statement is a product of the independent EGAPP Working Group. Althoughthe Centers for Disease Control and Prevention (CDC) provides support to the EGAPP Working Group, including staff support in the preparation of this document, recommendations made by the EGAPP Working Group should not be construed as official positions of the CDC or the U.S. Department of Health and Human Services.

Summary of Recommendations: The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group found sufficient evidence to recommend offering genetic testing for Lynch
syndrome to individuals with newly diagnosed colorectal cancer to reduce morbidity and mortality in relatives. We found insufficient evidence to recommend a specific genetic testing strategy among the several examined.

Rationale: Genetic testing to detect Lynch syndrome in individuals with newly diagnosed colorectal cancer (CRC) is proposed as a strategy to reduce CRC morbidity and mortality in their relatives (see Clinical Considerations section for definition of Lynch syndrome). The EGAPP Working Group (EWG) constructed a chain of evidence that linked genetic testing for Lynch syndrome in patients with newly diagnosed CRC with improved health outcomes in their relatives. We found that assessing patients who have newly diagnosed CRC with a series of
genetic tests could lead to the identification of Lynch syndrome. Relatives of patients with Lynch syndrome could then be offered genetic testing, and, where indicated, colorectal, and possibly endometrial, cancer surveillance, with the expectation of improved health outcome.
The EWG concluded that there is moderate certainty that such a testing strategy would provide moderate population benefit. Analytic Validity:...


*EGAPP Working Group: Chair: Alfred O. Berg, MD, MPH (University of Washington), Members: Katrina Armstrong, MD, MSCE (University of Pennsylvania School of Medicine); Jeffrey Botkin, MD, MPH (University of Utah); Ned Calonge, MD, MPH (Colorado Department of Public Health and Environment); James Haddow, MD (The Warren Alpert Medical School of Brown University); Maxine Hayes, MD, MPH (Washington State Department of Health); Celia Kaye, MD, PhD (University of Colorado School of Medicine); Kathryn A. Phillips, PhD (University of California, San Francisco); Margaret Piper, PhD, MPH (Blue Cross/Blue Shield Association
Technology Evaluation Center); Carolyn Sue Richards, PhD, FACMG (Oregon Health & Science University); Joan A. Scott, MS, CGC (Johns Hopkins University); Ora L. Strickland, PhD, DSc (Hon.), RN, FAAN (Emory University); Steven Teutsch, MD, MPH (Merck & Co.).
E-mail: egappinfo@egappreviews.org.
Disclosure: Steven Teutsch is an employee, option and stock holder in Merck
& Co., Inc.
Submitted for publication August 13, 2008.
Accepted for publication September 29, 2008.
DOI: 10.1097/GIM.0b013e31818fa2ff

full-text ► http://www.egappreviews.org/docs/EGAPPWG-LynchRec.pdf