When Tumor Screening Is Not Enough: Closing the Genetic Counseling Gap in Early-Onset Colorectal Cancer
Dimitrios N. Varvoglis, Lydia H. Comer, Kelsey R. Landrum, Julianne M. O’Daniel, Chris B. Agala, Jose G. GuillemBackground
Since early-onset colorectal cancer (CRC) is a hallmark for a hereditary form of cancer, genetic counseling is recommended. However, the referral rates, uptake, and outcomes of cancer genetic counseling (CGC) for early-onset CRC have not been as fully explored as they have for average-onset CRC patients.
Methods
Utilizing billing records, patients undergoing resection of a primary CRC at a safety-net University Hospital were identified. Electronic medical records were reviewed for: immunohistochemistry, microsatellite instability testing and genomic DNA sequence analysis results. Compliance with universal tumor screening, CGC referral, and attendance were assessed.
Results
Between 2018 and 2022, 342 patients underwent primary CRC resection, of whom 66 (19%) were early-onset patients. Most early-onset patients (92%) were screened with at least immunohistochemistry. Overall, 80 patients met criteria for CGC referral. The referral rate was 57% for mismatch repair (MMR) deficient average-onset colorectal cancer and 67% for all early-onset cases (
Discussion
Although universal tumor screening in a safety-net university hospital is feasible, opportunities for improving CGC referral and attendance rates exist, especially with the early-onset cohort, where germline variants may be detected even in mismatch repair proficient cases. It is incumbent upon surgeons to recognize these opportunities, especially in CRC not requiring multimodality therapy, where surgeons may be the sole provider.