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Genetic counseling and interpretation of genetic tests in familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer.

Wong, Nora M.S.; Lasko, Dana Ph.D.; Rabelo, Rogério M.D., Ph.D.; Pinsky, Leonard M.D. FRCPC; Gordon, Philip H. M.D. FRCSC, F.A.C.S.; Foulkes, William M.B.B.S., Ph.D.
Diseases of the Colon & Rectum: February 2001
doi: 10.1007/BF02234304
Current Status: PDF Only

PURPOSE: Genetic counseling and interpreting genetic test results can be complex. Moreover, without knowing the limitations of the methods used and the lifetime probability of developing cancer in individuals who carry a gene that predisposes to cancer, misinterpretation may lead to false assurance. The purpose of this review is to discuss how genetic counseling will benefit patients and their family, the genetic tests available for hereditary colorectal cancer syndromes, and the interpretation of results.

METHODS: Current literature was reviewed and our clinical and research experiences were incorporated.

RESULTS: This review serves as a guide to enable various health care providers to better counsel patients in their quest for advice on prevention, early detection, and surveillance for colorectal cancer. Notable topics of discussion are who should undergo genetic counseling and consider testing and how the interpretation of test results can be misleading; for example, understanding the difference between a no mutation detected vs. a negative test result.

CONCLUSIONS: Genetic counseling is of paramount importance for patients to fully understand the limitations of genetic testing and will aid in the management of patients who are susceptible to colorectal cancer.

(C) The ASCRS 2001