Increasing Lynch syndrome identification through establishment of a hereditary colorectal cancer registry.

Abstract

Lynch syndrome contributes to 5% of all colorectal cancers. Patients seen in most surgical clinics have limited or no family histories documented and are rarely assessed for hereditary syndromes. In 2007 a clinic-based hereditary colorectal cancer registry was established to screen for Lynch syndrome and facilitate genetic counseling/testing. To evaluate the effectiveness of the hereditary colorectal cancer registry to identify high-risk colorectal cancer patients and have them referred for genetic counseling/testing for Lynch syndrome. A retrospective review and cohort comparison of both prospectively collected and retrospective data. The colorectal surgical clinic at Vanderbilt University Medical Center. All newly diagnosed colorectal cancer patients seen between January 2006 and October 2010. To assess the identification of colorectal cancer patients at high risk for Lynch syndrome and for the occurrence of genetic counseling/testing before and after the establishment of a hereditary registry by comparing the results from the colorectal cancer patients seen the year prior to the establishment of the registry (January - December 2006, "control period") with those patients seen after initiation of the registry (January 2007 - October 2010, "registry period"). During the "registry period," 495 colorectal cancer patients were seen in the clinic and 257 (51.9%) were high risk for Lynch syndrome. Forty-nine patients (9.8%) underwent genetic testing, with 27 (5.4%) positive for a gene mutation, of which half were >50 years old. By comparison, in 2006, 115 colorectal cancer patients were seen in the clinic but only 4 patients (3.5%) went on for further assessment, and only 1 had genetic testing. Retrospective assessment showed that at least 22 patients (19.1%) had warranted further investigation in 2006. This was a single-institution, retrospective review. Establishment of a hereditary colorectal cancer registry with a clinic-based protocol improves identification of Lynch syndrome.