Referral, Uptake, and Outcome of Genetic Counseling and Testing in Patients With Early-Onset Colorectal Cancer
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Sanford R. Weiss, MD Center for Hereditary Colorectal Neoplasia, Cleveland Clinic, Cleveland, Ohio
DeBartolo Center for Young-Onset Colorectal Cancer, Cleveland Clinic, Cleveland, Ohio
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Sanford R. Weiss, MD Center for Hereditary Colorectal Neoplasia, Cleveland Clinic, Cleveland, Ohio
DeBartolo Center for Young-Onset Colorectal Cancer, Cleveland Clinic, Cleveland, Ohio
Department of Gastroenterology, Hepatology and Nutrition, Digestive Disease and Surgery Institute, Cleveland Clinic, Cleveland, Ohio
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DeBartolo Center for Young-Onset Colorectal Cancer, Cleveland Clinic, Cleveland, Ohio
Center for Personalized Genetic Healthcare, Genomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio
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DeBartolo Center for Young-Onset Colorectal Cancer, Cleveland Clinic, Cleveland, Ohio
Department of Gastroenterology, Hepatology and Nutrition, Digestive Disease and Surgery Institute, Cleveland Clinic, Cleveland, Ohio
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Center for Personalized Genetic Healthcare, Genomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio
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DeBartolo Center for Young-Onset Colorectal Cancer, Cleveland Clinic, Cleveland, Ohio
Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio
Population and Cancer Prevention Program, Case Comprehensive Cancer Center, Cleveland, Ohio
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Department of Hematology Oncology, Taussig Cancer Institute, Cleveland Clinic, Cleveland, Ohio
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Department of Hematology Oncology, Taussig Cancer Institute, Cleveland Clinic, Cleveland, Ohio
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Department of Hematology Oncology, Taussig Cancer Institute, Cleveland Clinic, Cleveland, Ohio
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Department of Hematology Oncology, Taussig Cancer Institute, Cleveland Clinic, Cleveland, Ohio
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Sanford R. Weiss, MD Center for Hereditary Colorectal Neoplasia, Cleveland Clinic, Cleveland, Ohio
DeBartolo Center for Young-Onset Colorectal Cancer, Cleveland Clinic, Cleveland, Ohio
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Background: The incidence of early-onset colorectal cancer (EOCRC) is rapidly increasing. Pathogenic germline variants (PGVs) are detected in 16% to 20% of patients who have EOCRC, highlighting a need for genetic counseling (GC) and multigene panel testing in these patients. We aimed to determine the rate of referral to GC and uptake and outcomes of germline testing in patients with EOCRC. Methods: We conducted a retrospective cohort study of patients aged <50 years diagnosed with colorectal cancer (CRC) from 2010 to 2019 at Cleveland Clinic. Demographic data were extracted, including age, sex, self-reported race, and family history of CRC. The proportions of patients with GC referral and completion of GC and genetic testing were investigated, and genetic testing results were analyzed. Multivariable logistic regression analysis was conducted to identify factors independently associated with GC referral and uptake. Results: A total of 791 patients with EOCRC (57% male and 43% female) were included; 62% were referred for GC, and of those who were referred, 79% completed a GC appointment and 77% underwent genetic testing. Of those who underwent testing, 21% had a PGV detected; 82% were in known CRC-associated genes, with those associated with Lynch syndrome and familial adenomatous polyposis the most common, and 11% were in other actionable genes. Referral to GC was positively associated with family history of CRC (odds ratio [OR], 2.11; 95% CI, 1.51–2.96) and more recent year of diagnosis (2010–2013 vs 2017–2019; OR, 5.36; 95% CI, 3.59–8.01) but negatively associated with older age at diagnosis (OR, 0.89; 95% CI, 0.86–0.92). Conclusions: Referral to GC for patients with EOCRC is increasing over time; however, even in recent years, almost 25% of patients were not referred for GC. We found that 1 in 5 patients with EOCRC carry actionable PGVs, highlighting the need for health systems to implement care pathways to optimize GC referral and testing in all patients with EOCRC.
Submitted April 29, 2023; final revision received July 10, 2023; accepted for publication July 11, 2023.
Author contributions: Conceptualization: Syed, Sommovilla, Burke, Liska. Data curation: Syed, McGee. Formal analysis: Syed, Sommovilla, Burke, McGee, Macaron, Heald, Lyu, Liska. Investigation: Heald, Lyu, Schmidt, Nair, Kamath, Krishnamurthi, Khorana, Liska. Methodology: Syed, Sommovilla, Burke, Lyu, Liska. Supervision: Sommovilla, Macaron, Schmit, Nair, Kamath, Krishnamurthi, Khorana. Validation: Burke. Visualization: Syed. Writing—original draft: Syed. Writing—review & editing: All authors.
Disclosures: Dr. Heald has disclosed holding an executive position with, serving on a governing board for, or being employed by Invitae Corporation; and owning stock or having an ownership interest in Invitae Corporation. Dr. Khorana has disclosed serving as a consultant for Janssen, Bayer, Pfizer, Sanofi, WebMD, Anthos Therapeutics, and Bristol Myers Squibb. Dr. Liska has disclosed receiving grant/research support from Freenome. The remaining authors have disclosed that they have not received any financial consideration from any person or organization to support the preparation, analysis, results, or discussion of this article.
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