Genetic counseling for hereditary cancer

Abstract

This paper provides an overview of the current approach to genetic counseling for cancer, using hereditary nonpolyposis colorectal cancer (HNPCC) as a prototype. Heretofore, when evaluating the possibility of an HNPCC diagnosis, physicians had to rely exclusively on a detailed family history of cancer in the context of an extended pedigree. Patients in the direct genetic lineage who had one or more first-degree relatives with an HNPCC syndrome cancer were told that they had a 50% likelihood of inheriting the deleterious gene. However, with the discovery of the HNPCC genes (hMSH2, hMLH1, hPMS1, hPMS2), genetic counseling can now provide a more precise determination of a patient's lifetime cancer destiny. Since these DNA findings are new, guidelines for sharing this information with patients remain preliminary. One must be certain that the patient wants to receive DNA information and that he or she is aware of potential discrimination by insurance companies and employers, as well as the possibility of psychological sequelae.