S302 Factors Associated With Referral for Genetic Counseling in Patients With 10-99 Cumulative Colorectal Adenomas: A Single Center Retrospective Study

Introduction: The National Comprehensive Cancer Network (NCCN) recommends genetic testing for patients with ≥20 colorectal adenomas and considers testing for those with ≥10 adenomas. Despite these guidelines, referral rates remain low, and the factors influencing referral decisions in clinical practice are not well understood. This study aimed to identify clinicopathologic characteristics associated with referrals for genetic testing in this population. Methods: With Institutional Review Board approval, we conducted a retrospective chart review using natural language processing to identify patients diagnosed with ≥10 cumulative colorectal adenomas between March 2009 and December 2023, based on data from the Cleveland Clinic’s pathology database. Patients with a known personal or family history of hereditary colorectal cancer (CRC) syndrome were excluded. Univariate and multivariable logistic regression analyses were performed to evaluate associations between demographics, clinical variables, and referral for genetic counseling. Results: A total of 385 patients with ≥10 cumulative colorectal adenomas were included. The median age at the time of oligoadenoma diagnosis was 74 years (interquartile range: 68-79). Of these, 118 (30.6%) were referred for genetic evaluation: 28 (23.7%) had 10-19 adenomas, and 90 (76.3%) had 20-99 adenomas. On univariable analysis, younger age at diagnosis (odds ratio [OR] 0.94, P = 0.001), having 20–99 adenomas (OR 1.97, P = 0.005), a family history of colorectal cancer (OR 2.00, P = 0.004), upper gastrointestinal (GI) adenomas (OR 2.09, P = 0.011), and presence of thyroid nodules (OR 2.26, P = 0.016) were significantly associated with higher referral rates. In multivariable analysis, 20–99 adenomas (OR 2.04, P = 0.006), family history of CRC (OR 1.82, P = 0.020), upper GI adenomas (OR 1.91, P = 0.042), and thyroid nodules (OR 2.07, P = 0.047) remained independently associated with referral. Each 1-year increase in age at diagnosis was associated with a 6% decrease in the odds of referral (OR 0.95, P < 0.001). Conclusion: In our cohort, referral for genetic evaluation was twice as likely among those with 20–99 adenomas, younger age at diagnosis, a family history of CRC, and the presence of upper GI adenomas or thyroid nodules. However, the overall referral rate remained low (∼30%), highlighting missed opportunities for genetic assessment in this high-risk population. These findings emphasize the need for greater provider awareness and consistent implementation of guideline-based referrals.

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Publication Details

Journal
The American Journal of Gastroenterology
Published
2025-10-01
DOI
https://doi.org/10.14309/01.ajg.0001128668.98059.29
Primary Topic
Genetic factors in colorectal cancer
Type
article
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article

S302 Factors Associated With Referral for Genetic Counseling in Patients With 10-99 Cumulative Colorectal Adenomas: A Single Center Retrospective Study

Basil Jalamneh, Carol A. Burke, Hazem Abosheaishaa, Qijun Yang et al.
The American Journal of Gastroenterology
Genetic factors in colorectal cancer
article

S302 Factors Associated With Referral for Genetic Counseling in Patients With 10-99 Cumulative Colorectal Adenomas: A Single Center Retrospective Study

Basil Jalamneh, Carol A. Burke, Hazem Abosheaishaa, Qijun Yang, Islam Mohamed, Carole Macaron, Moath Albliwi, Yara Shatnawi, Ahmed Mohamed, Chabaklo Khodor, Sara Shatnawy
article en

Abstract

Introduction: The National Comprehensive Cancer Network (NCCN) recommends genetic testing for patients with ≥20 colorectal adenomas and considers testing for those with ≥10 adenomas. Despite these guidelines, referral rates remain low, and the factors influencing referral decisions in clinical practice are not well understood. This study aimed to identify clinicopathologic characteristics associated with referrals for genetic testing in this population. Methods: With Institutional Review Board approval, we conducted a retrospective chart review using natural language processing to identify patients diagnosed with ≥10 cumulative colorectal adenomas between March 2009 and December 2023, based on data from the Cleveland Clinic’s pathology database. Patients with a known personal or family history of hereditary colorectal cancer (CRC) syndrome were excluded. Univariate and multivariable logistic regression analyses were performed to evaluate associations between demographics, clinical variables, and referral for genetic counseling. Results: A total of 385 patients with ≥10 cumulative colorectal adenomas were included. The median age at the time of oligoadenoma diagnosis was 74 years (interquartile range: 68-79). Of these, 118 (30.6%) were referred for genetic evaluation: 28 (23.7%) had 10-19 adenomas, and 90 (76.3%) had 20-99 adenomas. On univariable analysis, younger age at diagnosis (odds ratio [OR] 0.94, P = 0.001), having 20–99 adenomas (OR 1.97, P = 0.005), a family history of colorectal cancer (OR 2.00, P = 0.004), upper gastrointestinal (GI) adenomas (OR 2.09, P = 0.011), and presence of thyroid nodules (OR 2.26, P = 0.016) were significantly associated with higher referral rates. In multivariable analysis, 20–99 adenomas (OR 2.04, P = 0.006), family history of CRC (OR 1.82, P = 0.020), upper GI adenomas (OR 1.91, P = 0.042), and thyroid nodules (OR 2.07, P = 0.047) remained independently associated with referral. Each 1-year increase in age at diagnosis was associated with a 6% decrease in the odds of referral (OR 0.95, P < 0.001). Conclusion: In our cohort, referral for genetic evaluation was twice as likely among those with 20–99 adenomas, younger age at diagnosis, a family history of CRC, and the presence of upper GI adenomas or thyroid nodules. However, the overall referral rate remained low (∼30%), highlighting missed opportunities for genetic assessment in this high-risk population. These findings emphasize the need for greater provider awareness and consistent implementation of guideline-based referrals.

The American Journal of GastroenterologyVol. 120(10S2)
Openalex Percentile: Top 57%
Genetic factors in colorectal cancer
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