From the Guidelines
A negative Cologuard test alone is not sufficient for screening if you have a first-degree family member with colon polyps, and instead, you should undergo colonoscopy screening, which is the recommended approach for individuals with this family history. The presence of polyps in a first-degree relative (parent, sibling, or child) increases your risk for developing colorectal cancer, placing you in a higher risk category 1. According to the U.S. Multi-Society Task Force on Colorectal Cancer, individuals with a first-degree relative with colon polyps should begin screening at age 40, with the same tests and intervals as average-risk screening recommendations, unless there is clear documentation of an advanced adenoma in the first-degree relative 1.
Key Considerations
- The risk of colorectal cancer is higher in individuals with a family history of colon polyps, particularly if the relative was diagnosed at a young age 1.
- Colonoscopy is the preferred screening method for individuals with a family history of colon polyps, as it allows for direct visualization of the entire colon and immediate removal of any polyps found during the procedure.
- Cologuard, while useful for average-risk individuals, has limitations in detecting certain polyps and may miss significant lesions in higher-risk patients.
Screening Recommendations
- Begin screening at age 40, or 10 years before the age at which your relative was diagnosed with polyps, whichever comes first 1.
- The frequency of follow-up colonoscopies will depend on findings during your initial screening and your relative's specific polyp types.
- If a colonoscopy and/or pathology report(s) is available for a family member that documents an advanced adenoma or there is a report of a polyp requiring surgical resection, an advanced adenoma in a family member is considered established, and more intensive screening may be recommended 1.
From the Research
Screening for Colorectal Cancer with Cologuard
- A negative Cologuard test may not be sufficient for screening if a first-degree family member has colon polyps, as the test's positive predictive value (PPV) for colorectal cancer is low 2.
- The Cologuard test has a sensitivity of greater than 90% for detecting colorectal cancer, but only 40% for detecting advanced adenomas 3.
- A systematic review of the clinical validity of the Cologuard test found that it is a valid screening test for ruling out cancerous lesions, but is suboptimal for ruling out precancerous lesions 3.
Comparison with Other Screening Methods
- A study comparing colonoscopy with fecal immunochemical test (FIT) found that colonoscopy may be superior to FIT-based screening programs in preventing colorectal cancer mortality 4.
- However, the Cologuard test has the advantage of being non-invasive, which may increase colorectal cancer screening in otherwise non-compliant patients 2.
Family History and Screening
- A first-degree family member with colon polyps may increase the risk of colorectal cancer, and a negative Cologuard test may not be sufficient to rule out the risk 2.
- Further screening methods, such as colonoscopy, may be necessary to ensure accurate diagnosis and prevention of colorectal cancer in individuals with a family history of colon polyps.