Only two-thirds of patients with young-onset CRC receive referrals for genetic counseling
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CHARLOTTE, N.C. — Although 20% of patients with young-onset colorectal cancer have pathogenic germline variants, less than two-thirds receive referrals for genetic counseling, according to a data from the ACG Annual Scientific Meeting.
“The incidence of colorectal cancer among patients under the age of 50 has been steadily increasing over the last two decades,” Hareem Syed, MD, from Cleveland Clinic, told Healio. “Identifying hereditary cancer syndromes is important because cancer can then be prevented in patients and their relatives through frequent endoscopic surveillance beginning at an early age.”
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To assess the rate of genetic counseling referral and uptake of genetic testing in this group, as well as multigene panel test results, Syed and colleagues examined data from 791 young-onset colorectal cancer (YOCRC) patients seen at a tertiary referral center from 2010 to 2019. Demographic data was extracted from the electronic medical record (EMR). Genetic counseling was confirmed via EMR and clinical documentation. STATA, Chi-square and t-test and descriptive analyses were utilized for data analysis.
“We found that of young-onset CRC patients seen at our institution, only about two-thirds were referred for genetic counseling,” Syed told Healio. “However, among those patients referred to genetic counselors, the majority (80%) underwent counseling.”
Patients aged less than 40 years and those with a positive family history were referred to genetic counseling more frequently. Most patients seen by genetic counselors (97%) completed genetic testing. Pathogenic variants were detected in 20.5% of individuals, with 83% in CRC associated genes.
“Not enough young patients with CRC are being referred for genetic counseling and testing,” Syed told Healio. “About one in five patients is diagnosed with a pathogenic variant that could impact cancer prevention strategies in the patient and their relatives. Therefore, all patients under 50 diagnosed with CRC should be referred for genetic counseling.”
According to Syed, future studies will need to identify the barriers to genetic counseling and testing, as well as how they can be overcome.
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Syed H. Abstract S244: An Appraisal of the Referral, Uptake and Outcomes of Genetic Counseling and Testing in Patients with Young Onset Colorectal Cancer. Presented at: ACG Annual Scientific Meeting; Oct. 21-26, 2022; Charlotte, NC (hybrid meeting).
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