Abstract

INTRODUCTION: According to the U.S. Department of Health and Human Services, colorectal cancer is the third most common cancer in the U.S. and the second leading cause of death from cancers in both men and women. Unfortunately, in non-GI settings such as women's imaging centers, OB/GYN or Primary Care Providers, GI-related hereditary cancer risk may go undetected because specialty providers tend to implement risk assessment programs focused on their expertise. Since gastroenterology (GI) is associated with germline mutations that can also have implications in hereditary breast and ovarian cancers (HBOC), a broader risk assessment is critical to the proper management of patients in all settings. METHODS: This retrospective study analyzes data from the hereditary cancer risk screening program that has been implemented in the following non-GI settings: Women's Wellness, OB/GYN, Breast Surgery Clinic, and Breast Imaging. By using an automated risk assessment software which flags high-risk patients based on NCCN criteria, we looked at data for the 2018 calendar year and identified the total number of patients screened in these settings. Study metrics include the number of high-risk patients identified with GI-related cancer risk, the number of patients tested, the number of pathogenic mutations found, and the overall impact to GI volume from these risk screenings. RESULTS: JOURNAL/ajgast/04.03/00000434-201910001-00308/table1/v/2023-08-15T171636Z/r/image-tiff CONCLUSION: By screening patients outside of the GI setting for hereditary cancer risk, we were able to identify that 8% of all patients screened, a significant number, need changes to their GI care management plans. Additionally, for those patients at higher risk that underwent genetic testing, 87% of those who tested positive tested for a mutation that impacts a GI-related cancer and has major impacts to GI management. This data shows that an interdisciplinary approach is needed to fully capture high-risk GI patients, and hereditary screening needs to be done in all settings in order to maximize patient care and outcomes.

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