In Our Scope of Practice: Genetic Risk Assessment and Testing for Gastrointestinal Cancers and Polyposis in Gastroenterology.
Abstract
Gastrointestinal clinicians are a critical touchpoint for individuals at risk for genetic and familial syndromes that increase risk of colorectal, gastric, and pancreatic cancer. Although advances in sequencing technology and reduced costs have made genetic testing more readily accessible to clinicians and even to patients through direct-to-consumer testing, uptake of genetic testing remains underused. This is a missed opportunity to identify patients and family members who could benefit from genetic testing to diagnose cancer susceptibility syndromes for which surveillance and preventive interventions exist. Barriers for integration of genetic testing in routine practice include lack of awareness about genetic conditions by patients and providers, concerns about genetic testing costs and implications for insurability, as well as challenges in implementing algorithms for risk assessment and coordinated care in complex medical systems. This review addresses current evidence and guidelines for cancer risk assessment, genetic testing, and management to enable gastrointestinal clinicians to identify and care for individuals with genetic cancer-predisposition syndromes in routine practice.
EDRN PI Authors
Medline Author List
- Hampel H
- Kupfer SS
- Monahan K
- Stoffel E