Risk assessment tool, genetic testing identifies high-risk cancer susceptibility in 15.6%
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Key takeaways:
- Results showed 15.6% of individuals tested had pathogenic or likely pathogenic variants in a cancer susceptibility gene.
- Most of these individuals may not have been otherwise diagnosed.
VANCOUVER, British Columbia — A digital risk assessment tool and genetic testing program can be helpful in identifying patients with high-risk cancer susceptibility syndromes, according to a presenter at the ACG Annual Scientific Meeting.
“The perception of hereditary cancer syndromes is that they are relatively rare; however, this is clearly not the case,” Daniel J. Pambianco, MD, FACG, outgoing ACG president and gastroenterology specialist at GastroHealth of Charlottesville, told attendees. “A prior national survey of GI providers demonstrated that unfamiliarity with interpreting test results and unavailable genetic counseling are barriers to genetic risk assessments.”
“A web-based cancer risk assessment tool and genetic testing program utilizing telehealth capability has been available to ACG members since 2021 with GI OnDemand to streamline the following: family history, risk assessment, genetic education, genetic testing and post-test genetic counseling.”
Between September 2021 and May 2023, seven practices with 17 GI providers implemented the web-based, patient-facing risk stratification tool. Of 25,349 patient appointments, 9,340 assessment invitations were sent, of which 62.4% were completed and 25.2% met National Comprehensive Cancer Network criteria for genetic counseling and testing. A total of 403 genetic tests were ordered and 302 completed.
Results showed 47 patients (15.6%) tested had 49 pathogenic or likely pathogenic variants in a cancer susceptibility gene, of whom 12 patients had high-risk cancer susceptibility syndromes, including Lynch syndrome (n = 7), hereditary breast-ovarian cancer syndrome (n = 4) and Li Fraumeni syndrome (n = 1).
Thirteen individuals had pathogenic or likely pathogenic variants in moderate-risk genes and 24 were carriers of autosomal recessive disorders, which did not affect their risk for cancer but were important for reproductive risk counseling. The remainder had variants of uncertain significance (23.5%) or tested negative (61.3%).
“Systematic implementation of a digital risk assessment tool can identify patients with high-risk cancer susceptibility syndromes and other actionable variants,” Pambianco concluded. “Most of these individuals, and certainly by extension their family members through cascade testing, may not have been diagnosed otherwise.”
He continued: “Syndrome identification allows implementation of intensive surveillance, including earlier and more frequent colonoscopy depending on the pathogenic variant, or to prevent or diagnose a cancer earlier.”
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Pambianco DJ, et al. Implementation of a digital cancer risk assessment tool and genetic testing program in gastroenterology practices throughout the U.S. identifies inherited cancer susceptibility syndromes in 15.6% of patients tested. Presented at: ACG Annual Scientific Meeting; Oct. 20-25, 2023; Vancouver, British Columbia (hybrid meeting).
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