eP725 - Universal Tumor Screening and Referral to Cancer Genetic Counseling of Colorectal Cancer Patients in a Safety Net-Hospital: The Surgeons’ Role

Tuesday, June 4, 2024

8:06 AM – 8:11 AM ET, USA

Location: Baltimore Convention Center, Room 318-320

ePoster Presenter(s)

Dimitrios Varvoglis, MD (he/him/his)

Colorectal Surgery Research Fellow
University of North Carolina at Chapel Hill, Department of Surgery, Division of Gastrointestinal Surgery
University of North Carolina at Chapel Hill
Chapel Hill, NC, United States

All of the relevant financial relationships listed below have been mitigated.
This individual has no financial relationships with ineligible companies.

Author(s)

LC

Lydia H. Comer, BA, MD(c)

Research Assistant
University of North Carolina at Chapel Hill
Charleston, South Carolina, United States

Disclosure information not submitted.
KL

Kelsey R. Landrum, MS

Graduate Research Assistant, PhD Candidate
University of North Carolina at Chapel Hill, Gillings School of Global Public Health, Department of Epidmeiology; School of Medicine, Department of Surgery
Chapel Hill, North Carolina, United States

Disclosure information not submitted.
JO

Julianne O'Daniel, n/a

Associate Professor, Director for Genetic Counseling
UNC Chapel Hill
Chapel Hill, North Carolina, United States

Disclosure information not submitted.
CA

Chris B. Agala, PhD

Epidemiologist/Biostatistician
UNC Chapel Hill School of Medicine Surgery Dept.
Chapel Hill, NC, North Carolina, United States

Disclosure information not submitted.
MK

Muneera Rehana Kapadia, MD

Professor
University of North Carolina at Chapel Hill
Chapel Hill, North Carolina, United States

Disclosure information not submitted.
JS

Jonathan Stem, MD

Assistant Professor of Surgery
University of North Carolina at Chapel Hill School of Medicine
Chapel Hill, North Carolina, United States

Disclosure information not submitted.
KS

Karyn Stitzenberg, MD

Professor
University of North Carolina
Chapel Hill, North Carolina, United States

Disclosure information not submitted.

Senior Author(s)

Jose Guillem, MD

Professor of surgery
UNC- Chapel Hill
UNC-Chapel Hill
Chapel hill, North Carolina, United States

Disclosure information not submitted.

Purpose/Background: Universal tumor screening (UTS), consisting of immunohistochemistry (IHC) for Lynch syndrome genes and/or microsatellite instability (MSI) testing, is recommended for all newly diagnosed colorectal cancers (CRC), because identification of hereditary CRC may impact extent of surgery, future cancer prevention and family member testing. Referral for cancer genetic counseling (CGC) is indicated based on: (1) Mismatch repair deficiency (dMMR) (absent IHC/MSI-High) and/or (2) early-age-of-onset (EAO) status, defined as < 50 years of age at the time of diagnosis. We sought to evaluate compliance with UTS and CGC referral in a safety net-University Hospital.Methods/Interventions: Utilizing billing records, patients undergoing resection of a primary CRC at a safety net-University Hospital were identified. Electronic medical records were reviewed by two independent reviewers for: IHC and MSI, genomic DNA sequence analysis and deletion/duplication testing results. Compliance with UTS and CGC referral were assessed.Results/Outcomes: Between 2018-2022, 342 patients (mean age=61.6 years) underwent resection of a primary CRC. A total of 66 (19%) were EAO. Most (94%) were screened with at least IHC, with 71% undergoing both IHC and MSI testing. Eighty met criteria for CGC referral based on: (1) dMMR results and/or (2) EAO status. The referral rate was 70% for dMMR cases and 67% for EAO cases (p=0.78). Of note, 60 (91%) of EAO cases were MMR-proficient and hereditary testing was performed in 25 of them and identified a causative variant in 8 (32%) cases and in 8 genes: APC, PMS2, MUTYH, POLE, POLD1, BMRPR1A, MSH6 or MSH2.Conclusion/

Discussion: Although UTS and appropriate CGC referral in a safety net-University hospital is feasible, opportunities for improving CGC referral rates exist, especially with the EAO cohort, where germline variants may be detected regardless of MMR status. It is incumbent upon surgeons to recognize these opportunities especially in CRC not requiring multimodality therapy, where they may be the sole provider.