Before an individual chooses to have the gene test, he or she should meet with specially trained health professionals, such as genetic counselors. These experts can help individuals determine the advantages and disadvantages of testing, interpret gene test results, and provide information about appropriate screening and diagnostic tests. The Johns Hopkins Hereditary Colorectal Cancer Clinic and Registry suggests that any Ashkenazi Jewish person who has a personal or family history of colon cancer or precancerous polyps consider genetic counseling and testing. Those Ashkenazi Jews without a family history of colorectal cancer may want to consider genetic counseling to determine the value of testing given specific circumstances. This test is not recommended for non-Ashkenazi Jewish individuals.
Early diagnosis is important for the early detection and prevention of cancer.
Individuals with a positive gene test should start having routine colonoscopy every 2 years beginning at age 35 or 5 to 10 years before the earliest age at which colon cancer or polyps occurred in the family. Relatives of individuals testing positive for this mutation also should consider genetic counseling. Such a test result does not rule out that these individuals may be at risk for other mutations in other genes linked with colorectal cancer. This risk may be evaluated through genetic counseling where family history, lifestyle, and other issues may be discussed. Currently, this test is available only through the Johns Hopkins Medical Institutions.