K Monahan et al. Gastroenterol 2025; 169: 1147-1165. Open Access! In Our Scope of Practice: Genetic Risk Assessment and Testing for Gastrointestinal Cancers and Polyposis in Gastroenterology

This open access review is a great up-to-date reference/resource on risks, evaluation/surveillance, and genetic testing in a wide range of disorders. This includes the myriad of polyposis syndromes as well as colorectal cancer, pancreatic cancer, and gastric cancer.

Table 2 describes the Genetic Syndromes Associated With Risks for GI Cancers and Polyposis and the recommended surveillance/testing. For example –FAP (familial adenomatous polyposis) and JPS (juvenile polyposis syndrome):

One recent new twist is the availability of direct-to-consumer testing (DTC). “Caution is advised as DTC tests can vary with regard to their quality and clinical validity. For example, some nonclinical DTC genetic tests use arrays (or “chips”) to detect single nucleotide polymorphisms associated with cancer risk in genome-wide association studies, and do not perform comprehensive sequencing of the genes of interest or evaluate for genomic deletions or duplications. DTC testing may focus on selected high-risk variants and thus incomplete test results could be falsely reassuring.

Furthermore, DTC tests do not usually include pre- and post-test genetic counselling to inform individuals about the genomic information being evaluated, as well as the broad implications for them as an individual, and for their families.”

My take: This article provides useful updated guidance on genetic testing for a wide range of GI disorders that predispose to cancer.

Related blog posts:

• Dr. Steve Erdman: Perplexing Polyposis Patients: a Case-Based Discussion
• Impact of Gene Mutation on Juvenile Polyposis Syndrome
• Colorectal Cancer in Patients Up to Age to 25 Years
• Approach to Fundic Gland Polyps and VCE for Polyposis Syndromes
• Surprising Genetic Mutations in Polyposis Study
• ESPGHAN Juvenile Polyposis Syndrome in Children –Position Paper
• What I Like About ESPGHAN Familial Adenomatous Polyposis Position Paper -reviews many topics including CHRPE
• Cold vs Hot Polypectomy for Small Polyps
• Polyposis in Pediatric Patients -Review
• Blog Case Report: Colonic Polyp & Elevated Calprotectin
• Updated Guidelines on Genetic Testing/Management for Hereditary GI Cancer Syndromes (2015)
• The Latest on Lynch Syndrome