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