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Abstract

Colorectal cancer (CRC) remains the second most common cause of cancer mortality in the United States. Current recommendations advise initiating colonoscopy at age 40, or 10 years earlier than the youngest affected first-degree relative (FDR), in individuals with a family history of CRC or advanced polyps (AP). Despite these guidelines, their translation into routine clinical counseling is not well defined. This study examines how often patients with CRC or AP receive guidance about early screening for FDRs.

A retrospective review was performed using electronic health records from an urban academic center. Patients diagnosed with CRC or AP between January 2019 and December 2024 were included. CRC was defined as colorectal adenocarcinoma, while AP encompassed adenomas >10 mm, lesions with villous histology or high-grade dysplasia, and serrated lesions >10 mm. Data on demographics, clinical features, and risk factors were collected. The primary measure was documentation of counseling regarding earlier CRC screening for FDRs.

The cohort included 225 patients, a majority of which were older than 50 years. Comorbid conditions include hypertension (50%) and diabetes (21%). A small subset had inflammatory bowel disease (n=3), Lynch syndrome (n=3), or familial adenomatous polyposis (n=1). Documentation of counseling for FDR screening was found in only 13 cases (5.8%). Most counseling was delivered by genetic counselors (n=8), with fewer instances by colorectal surgeons (n=2), oncologists (n=2), and gastroenterologists (n=1). There was no recorded evidence of FDRs who subsequently underwent screening.

Counseling patients about earlier CRC screening for at-risk relatives is infrequently documented in clinical practice. When present, it is predominantly provided by genetic counselors, with limited involvement from gastroenterologists. Additionally, follow-up on whether relatives completed recommended screening is lacking. These findings point to a gap between guideline recommendations and clinical practice, highlighting an opportunity to improve preventive care in high-risk groups.

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