Lessons learned from a pilot screening trial in a community-based general surgery clinic for identifying patients with hereditary cancer syndromes.

Florias A Morfesis, MD, FACS¹, Brian P Rose, PAS, MPH². ¹Owen Drive Surgical Clinic of Fayetteville, PLLC, ²Methodist University PA Program

Introduction: The ability to analyze known “cancer” genes and estimate lifetime risk of development has changed the way physicians approach management of these patients. Recently, a new 25 gene panel was made commercially available to analyze genes commonly associated with Lynch syndrome/polyposis syndrome and hereditary breast and ovarian cancer (HBOC). The purpose of this study was to evaluate a screening and testing protocol for hereditary cancer syndromes in a community-based general surgery clinic. 

Methods: Patients presenting to the outpatient general surgery clinic during the study time period were given a family history survey that accounted for a three generation family history. A total of n=126 patients were analyzed. Patients who indicated a family history of at least 1 individual with either breast, colon, pancreatic, ovarian, endometrial, or gastric cancers. National Comprehensive Cancer Network (NCCN) criteria was used to determine if patients were appropriate for genetic testing. Patients were offered MyRisk panel testing. 

Results: Of the n=126 patients that were initially screened, n=55 were identified as meeting NCCN criteria for genetic testing services. Panel testing was offered to these individuals. N=31 patients completed testing. Testing that was not completed was due to insurance coverage issues. Lynch syndrome was identified in 1 patient, BRCA 1/2 mutations were identified in 1 patient, a positive mutation for MYH was identified in 1 patient, and 5 patients had variants of unknown clinical significance identified. 

Conclusion: In this community-based general surgery clinic, we demonstrate the efficacy associated with genetic screening and risk stratification. Based upon this knowledge, we as providers are able to make recommendations about screening modalities, prophylactic surgeries, further genetic counseling, and long-term follow up. Furthermore, this pilot investigation demonstrates the ease of use of a screening questionnaire that can ultimately be integrated into clinical practice by providers.