Hereditary Polyposis Syndromes: National Survey on Practice Patterns

A national survey conducted by Cleveland Clinic has revealed significant variation in how healthcare providers manage patients with hereditary polyposis syndromes, highlighting inconsistencies in screening, surveillance, and genetic testing practices across the United States.

The study, published in the journal Gastroenterology, analyzed responses from over 300 gastroenterologists and colorectal surgeons to assess current clinical practices for conditions such as familial adenomatous polyposis (FAP), Lynch syndrome, and MUTYH-associated polyposis. Researchers found that while most clinicians recognize the importance of early detection, adherence to evidence-based guidelines varies widely depending on geographic region, practice setting, and individual provider familiarity with genetic risk assessment.

One of the most notable disparities identified was in the timing and frequency of colonoscopic surveillance. Although professional guidelines recommend initiating colonoscopy surveillance in FAP patients as early as age 10 to 15, the survey showed that nearly 30% of respondents delayed screening until after age 18. Similarly, for Lynch syndrome, where colonoscopies are advised every one to two years starting at age 20 to 25, about 25% of clinicians reported following longer intervals or initiating screening later than recommended.

Genetic testing practices also showed inconsistency. While over 80% of providers reported offering genetic testing to patients with a personal or family history suggestive of hereditary polyposis, fewer than 60% consistently referred patients to certified genetic counselors before testing — a step emphasized in guidelines to ensure informed consent and proper interpretation of results.

“We saw a clear gap between guideline recommendations and real-world practice,” said Dr. Laura Chen, lead author of the study and a gastroenterologist at Cleveland Clinic’s Digestive Disease & Surgery Institute. “Even among specialists, there’s uneven application of genetic risk assessment tools and surveillance protocols, which could lead to delayed diagnosis or unnecessary procedures.”

The researchers attributed the variation to several factors, including limited access to genetic counseling services in rural areas, differing levels of awareness about updated guidelines, and systemic barriers such as insurance authorization delays. Academic medical centers were more likely to adhere closely to guideline-recommended practices compared to community-based practices, though exceptions existed in both settings.

Hereditary polyposis syndromes account for up to 5% of all colorectal cancers and are characterized by the development of numerous colorectal polyps at a young age, significantly increasing cancer risk if left unmanaged. Early identification through genetic testing and regular surveillance can prevent cancer development in the majority of cases.

The study authors called for increased education initiatives targeting frontline gastroenterologists and primary care providers, as well as improved infrastructure to support genetic counseling access. They also recommended integrating clinical decision support tools into electronic health records to help standardize surveillance schedules and testing referrals.

“Standardizing care doesn’t mean eliminating clinical judgment,” Dr. Chen added. “It means ensuring that all patients, regardless of where they live or who their doctor is, have access to the same evidence-based foundation for managing these high-risk conditions.”

The research was supported by the National Institutes of Health and conducted in collaboration with the American Society for Gastrointestinal Endoscopy. The authors reported no conflicts of interest related to the study’s findings.