HEALTH POLICY
Steven Sorscher, MD
Corresponding Author: Steven Sorscher, MD; Private Practice.
Email: ssorscher1@gmail.com
DOI: 10.3122/jabfm.2022.220288R1
Keywords: Colorectal Cancer, Genetic Testing, Germ-Line Mutation, Primary Health Care, Risk Assessment
Dates: Submitted: 08-24-2022; Revised: 11-03-2022; Accepted: 11-16-2022
AHEAD OF PRINT: | HTML | | PDF | FINAL PUBLICATION: | HTML | | PDF |
Colorectal cancer (CRC) is among the most common cancers diagnosed in the U.S. Most patients are cured and have completed their routine surveillance in oncology clinics and are being followed by primary care clinicians. Those providers are tasked with discussing with these patients genetic testing for inherited cancer-predisposing genes which are called pathogenic germline variants or PGVs.
Recently, the National Comprehensive Cancer Network (NCCN) Hereditary/Familial High-Risk Assessment: Colorectal Guidelines expert panel updated their recommendations for genetic testing. It is now recommended that all patients diagnosed with colorectal cancer (CRC) before age 50 be tested and patients diagnosed at age 50 or older should be considered for multigene panel testing (MGPT) for inherited cancer predisposing PGVs.
Here, I discuss the basis for the NCCN expanded genetic testing recommendations and highlight the salient controversies related to genetic testing. I also review the literature which suggests that PCCs identified more training as the measure needed before they are comfortable having complex discussions related to genetic testing with their patients.