Guilt From Negative Genetic Test Findings

Mr. A, a 49-year-old man, underwent a total colectomy for familial adenomatous polyposis. He and his 15-year-old son requested predictive genetic testing 3 years later to reduce uncertainty and to help plan his son’s future, because Mr. A’s mother had died of colon cancer secondary to familial adenomatous polyposis. Mr. A and his son were provided with both an educational session explaining the genetics of hereditary diseases and counseling regarding the possible impact of positive test results. The tests revealed the presence of a mutation in the father but not in the son. Mr. A was relieved that his “bad blood” had not been passed on to his son. Later, however, he began to experience anhedonia and became depressed for several days. His primary care physician could not determine the reason for his feelings.

Mr. A was the chairperson of a familial adenomatous polyposis patient support group run by patients, their families, and health care providers. The group had been established to help families with familial adenomatous polyposis exchange information and experiences. Mr. A began to feel guilty because his son had tested negative while family members of others in his support group had tested positive for the disease.