Identification of Lynch syndrome cohort in a hospital system.

• DOI: 10.1200/jco.2017.35.8_suppl.91
• Publication Date: 2017-04-05T09:48:35Z
• Authors: Andrew L. Salner; Richard Sekerak; Peter Paul Yu
• Keywords: 03 medical and health sciences; 0302 clinical medicine; 16. Peace & justice; 3. Good health

91 Background: Lynch Syndrome (LS) is a genetically inherited autosomal dominant disease that is the result of germline mutations in mismatch repair (MMR) genes. LS is the most common cause of inherited colorectal cancer (CRC), causes cancer at a younger age, and increases other cancer risk (pancreas, endometrium). Thus, it is important to identify patients who have LS so that patients and affected family members can receive the proper surveillance and care. Hartford HealthCare Cancer Institute (HHCCI) has developed a standard of care to screen patients who may have LS by testing CRC specimens for loss of expression of MMR genes, as well as to refer all patients under 50 for counseling. The aim of this research project is to determine how well each of our healthcare system's five hospitals is meeting the standard. Methods: This retrospective study explored all cases of CRC at each of the five HHCCI hospitals from 2014-2015. Patients were identified from the Cancer Registry and data was extracted from patient charts, pathology and genetics reports. The study analyzed: age, gender, stage, presence of MMR testing, and genetics counseling and testing for MMR positive patients and patients under 50. Results: 423 CRC patients were diagnosed at HHC cancer centers, 45% male, 55% female, average age of 68.2. In total, HHCCI tested 81.3% of patients diagnosed with CRC in 2014-2015, ranging from 30.8 to 94.5% among the hospitals. 7.6% of patients had abnormal MMR results. Of patients with MMR+ results, 57.7% had genetic consult and 10 of the 15 consulted had a germline test. Seven patients (70%) tested positive for LS. Patients with LS were younger (average age 47.6), and the majority were male. Ten of 45 patients under 50 were referred for genetics consult (22%), with a range of 0-67% amongst the hospitals. Three were LS positive on testing. Conclusions: Clinicians on our GI cancer team assumed that the agreed upon standard of MMR testing in CRC and referral of younger patients for genetics counseling would result in 100% compliance. The study outcomes suggest a need for improved implementation strategies for CRC testing at HHCCI hospitals. Overall, the study demonstrates the importance and need of quality improvement measures to inform and improve patient care.