DEFICIENCIES IN GENETIC TESTING AMONG PATIENTS YOUNGER THAN 50 YEARS WITH COLORECTAL CANCER
Hannah Ficarino*2, Tara Wood2, Benjamin Cage3, Jean Paul Osula3, Daniel I. Chu2, Sushanth Reddy2, Smita Bhatia1, Robert Hollis2
1The University of Alabama at Birmingham Department of Pediatrics, Birmingham, AL; 2The University of Alabama at Birmingham Department of Surgery, Birmingham, AL; 3The University of Alabama at Birmingham Heersink School of Medicine, Birmingham, AL
Introduction:
Identification of hereditary colorectal cancer syndromes is important to inform treatment, surveillance, and family testing. National guidelines recommend universal genetic testing for colorectal cancer patients diagnosed at age ≤50. However, overall genetic testing rates are suboptimal, and factors associated with genetic testing in young patients are unclear. We evaluated rates of genetic testing for young colorectal cancer patients and hypothesized that testing would be associated with specific patient- and disease-related factors.
Methods:
We performed a retrospective review of patients diagnosed with colorectal cancer at age ≤ 50 between 2018 and 2021 and received the entirety of their cancer care at a large academic institution in the Deep South. The primary outcome of interest was the completion of germline multigene panel testing. The secondary outcome was receipt of genetic counseling. Independent variables of interest included patient demographics, family history, and cancer-specific variables. Descriptive and bivariate statistics were performed for comparisons.
Results:
A total of 65 patients met inclusion criteria, of which 78.5% (n=51) had Stage I-III disease. Overall, 26.1% (n=17) completed genetic testing, and 33.8% (n=22) were seen by a genetic counselor. There was no difference in rates of genetic testing by sex, race, marital or insurance status (p>0.05). Genetic testing was higher among patients with Christian religion (32.6%) and lower in patients unaffiliated with a religion (9.5%; p=0.03). Patients who reported a family history of cancer were more like to undergo genetic testing (32.6%) than patients who did not (10.5%; p=0.05). Patients who received chemotherapy were more like to have genetic testing (34.7% vs 0%; P=0.01). Of the patients who completed genetic counseling, 77.3% (n=17) completed genetic testing. Predictors of genetic counseling were similar to genetic testing and included Christian religion, family history of cancer, and receipt of chemotherapy (p<0.05).
Conclusion:
Only one-quarter of colorectal cancer patients under the age of 50 underwent genetic testing. Patient religion, family history of cancer, and receipt of chemotherapy were important factors associated with completion of genetic testing. These findings highlight a critical need to elucidate the barriers to facilitators to genetic testing in colorectal cancer.
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