CHARLOTTE, N.C. – Nearly one-fourth of patients with early-onset colorectal cancer don't get referrals for genetic counseling or testing, and although acceptance of genetic counseling has improved over the last 10 years, there is still a notable gap between referrals and uptake, investigators have found.
Among 791 patients with young- or early-onset colorectal cancer (YOCRC) seen at a large medical center from 2010 through 2019, 62.1% were referred for genetic counseling, but only 80.1% of this group followed through with the referrals by scheduling an appointment with a counselor or having genetic testing performed, reported Hareem Syed, MD, from the department of internal medicine at the Cleveland Clinic.
"Our findings highlight the need for health systems to implement care pathways to optimize genetic counseling referral and testing in all young-onset colorectal cancer patients," she said at the annual meeting of the American College of Gastroenterology.
The incidence of CRC diagnosed in persons younger than 50 years is increasing and has been projected to double by 2030, Syed noted.
In 2009, the Eastern Cooperative Oncology Group recommended that all patients with colorectal cancer be screened for the Lynch syndrome, and earlier this year the National Comprehensive Cancer Network issued a recommendation that patients with YOCRC undergo germline multigene panel testing (MGPT). MGPT has shown that as many as 30% of patients with YOCRC carry a germline pathogenic variant that predisposes them to CRC, regardless of family history, she said.
"We hypothesized that the rate of referral to genetic counseling in this population is low despite the high incidence of pathogenic germline variants, but the uptake of genetic counseling is high [when referred]," Syed said.
How Often, and Who Needs It?
The investigators sought to determine the frequency of referral to genetic counseling and patient uptake of referrals to assess factors associated with referrals and with uptake, and to evaluate the results of genetic testing.
They reviewed records on all patients younger than 50 years seen at the Cleveland Clinic for CRC from 2010 through 2019, excluding those with appendiceal cancers, a family history of a hereditary cancer syndrome, or irritable bowel syndrome.
The information they extracted from electronic medical records included patient age, sex, family history of CRC, income, tumor stage, and the location and time period of CRC diagnosis.
They considered a genetic counseling referral to be either an order for counseling in the record; clinical documentation of a referral in an office visit with colorectal surgery, oncology, or gastroenterology specialists; or documentation of a completed visit with a genetic counselor.
They considered patient uptake of a counseling referral as either a completed visit to the counselor or documentation of genetic testing results.
The mean patient age at diagnosis was 44 years, with 57.3% of patients male, and 42.7% female. The large majority of patients (86.5%) were White. In all, 40.2% of patients had a family history of CRC.
As noted above, 62.1% of the 791 patients included in the study were referred for counseling, and 80.1% of those referred followed through with uptake. Of this group, nearly all (97.1%) completed genetic testing.
In univariate analysis, factors associated with referral included older patient age at diagnosis, which showed that patients approaching 50 were less likely to receive a referral (odds ratio, 0.904), year of diagnosis with patients diagnosed in the most recent period more likely to receive a referral (OR, 1.247), and family history of CRC (OR, 2.195).
In multivariate analysis, factors significantly associated with referral were age at diagnosis (OR, 0.89), family history of CRC (OR, 2.112), and year of diagnosis (for 2017-19 vs. 2010-13, OR, 5.361).
Among 377 patients who completed genetic testing, 21% were found to have a pathogenic variant, 23% had variants of unknown significance, and 56% had no variants detected. The most commonly detected pathogenic variants were the Lynch syndrome and adenomatous polyposis.
Educate Patients and Physicians
In an interview, Daniel J. Pambianco, MD, from Charlottesville (Va.) Gastroenterology Associates, who was not involved in the study, commented that patient perceptions about the consequences of genetic testing may be a barrier to either getting a referral for counseling or following through on one.
"Oftentimes patients will perceive anything with 'genetic' in it as if their genes are somehow being manipulated, and we need to do a better job at educating patients in that regard," he said.
Physicians, both primary care practitioners and gastroenterologists, also need to fully appreciate the importance of genetic testing in this population, "because in essence there may be a 4%, 5%, or 6% risk of genetic syndromes that we're missing and cannot pick up just from getting patients' histories," he said.
The investigators did not report a study funding source. Syed and Pambianco reported having no relevant financial disclosures.
This article originally appeared on MDedge.com, part of the Medscape Professional Network.
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Cite this: Some Young CRC Patients Are Missing Out on Genetic Counseling, Testing - Medscape - Oct 26, 2022.