Implementing Lynch syndrome screening utilizing a community partnership.

Abstract

203 Background: Lynch syndrome (LS) is an autosomal dominant condition associated with an 80% risk of colorectal cancer, a 60% risk of endometrial cancer, and additional risks for extra-colonic cancers. Amsterdam and Bethesda criteria can be used to identify patients who may be at risk. However, 25% of colon cancer and 65% of endometrial cancer patients with LS will be missed by using family history criteria alone. LS is caused by mutations in mismatch repair genes (MMR): MLH1, MSH2, MSH6, PMS2, and EPCAM. Tumor screening by immunohistochemistry (IHC) is available, and abnormal results can be flagged for more definitive genetic counseling and testing. Recommendations from the 2009 EGAPP (Evaluation of Genomic Applications in Practice and Prevention) Working Group concluded there is sufficient evidence to use this tumor testing for LS, and the screening would provide moderate population benefits. Cost effectiveness studies have shown universal screening detects nearly twice as many cases of LS and is < $25,000 per life year saved. Methods: St. Luke’s Mountain States Tumor Institute (MSTI) implemented these recommendations in 2012 using a unique strategy: collaborating with a community organization. The Brian Olson Foundation (BOF) strives to “prevent(ing) colon cancer through community outreach and education and saving lives by detecting colon cancer as early as possible.”These objectives were aligned with the MSTI screening program for LS in Idaho by using BOF funding to eliminate a financial burden to the patient for 12 months. Results: 204 specimens were screened for LS using IHC with the following results: 73% normal, 21% abnormal staining for MLH1/PMS2, and 6% abnormal staining for a single protein. Three families were confirmed to have LS after molecular genetic testing, and 6 families have genetic test results pending. Conclusions: Our system had IHC numbers consistent with national data, if not slightly higher. MSTI has elected to continue the program long-term. This kind of collaboration eased the change in practice such that LS screening could become a standard of care in Idaho.