Impact of genetic counseling and DNA testing on individuals with colorectal cancer with a positive family history: a population-based study

What is the impact of a genetic evaluation for colorectal cancer susceptibility? We previously reported a study of individuals diagnosed with colorectal cancer at 60 years of age or less in a five-county area of New York including Rochester. Subjects reporting at least one first- or second-degree relative with colorectal cancer were invited to receive genetic counseling and DNA testing. Of the 37 persons tested, we previously reported that 6 were found to have deleterious mutations in MSH2 or MLH1. A mutation has since been found in a seventh subject in another laboratory. To evaluate the impact of the testing experience, we followed-up on 36 of these 37 subjects at 3 and 12 months after communicating their DNA test result. We ascertained their knowledge of colon cancer, whether they told relatives their test result, their surveillance behavior, and their mental health. Three months after receiving their result, subjects knew more about colon cancer if they had more cancer of all types in their family (p = 0.02). At 12 months, they knew more if they had been found to have a mutation (p < 0.001), were younger when DNA tested (p < 0.01), or were younger when diagnosed with cancer (p < 0.03). All but 1 of those found to have an abnormality told relatives. Relatives of 3 subjects in whom a mutation had been found came to us to be tested themselves. At 12 months, surveillance for colon and endometrial cancer was more adherent if there were more total cancers in the family (p < 0.05) or if the testee were more worried about cancer (p < 0.05). Self-assessed mental health at 12 months was better for those who were married (p < 0.05). This study suggests that individuals undergoing a genetic evaluation for an inherited susceptibility to colorectal cancer pursue recommended surveillance and inform relatives of their result.