Quality-Control Study Evaluating the Identification, Family History Collection, and Genetic Counseling Referral of Individuals At-Risk for HNPCC (Lynch Syndrome) Within the University of Pittsburgh Medical Center System and Applications to a State-Wide Referral System

摘要: Background: Hereditary Non-Polyposis Colorectal Cancer (HNPCC) is a dominantly inherited syndrome predisposing individuals to cancers of the colon and other organs. HNPCC caused by mutations in one four mismatch repair proteins responsible for DNA repair. Current guidelines on screening have focused administering molecular testing tumors at-risk groups affected with colorectal cancer. Criteria include both tumor pathology personal family history Abnormal test results warrant referral genetic counseling germline testing. Public Health Significance: Identifying crucial surgical purposes order reduce mortality morbidity. Additionally, members can undergo determine whether increased surveillance or surgery warranted. Results: The study revealed that 45.3% (total n=44) patients warranting attended at appointment within UPMC system. Patients who had cancer were more likely attend session than pathological age dependant risk factors (p = 0.0014; OR 4.8; 95% CI: 1.78, 12.95). Furthermore, whose families displayed different type average time interval between was approximately 63 days. Finally, 24% 21.5% abnormal identified independently criteria, respectively. Conclusions: This indicates improvements be made process Several potentially associated attending including: presence history, family. Timing may also impact attendance counselor. reveals there an opportunity detailed collection system, from which health care practitioners identify address influence patient compliance referrals clinical management. These inform development state-wide program.