The Emotional Impact of Hereditary Colon Cancer
By Susan K. Peterson, M.P.H. and Beatty Watts, M.S.

Although the survival rates for nearly all cancers have improved over the past few decades, a diagnosis of cancer still evokes a strong emotional response and often fears of death, disfigurement, and loss of control. People who have a family history of cancer may have even greater fears and worries about the disease because they have dealt with cancer diagnoses in their own family. Some people with cancer family histories have described themselves as "ticking time bombs," and have expressed great concern about their own risk of developing the disease. Individuals may have very different reactions to the knowledge that cancer runs in their families, reactions that may depend on their own beliefs about cancer as well as their personal experience with the disease.

Genetic counseling can help an individual learn more about the meaning of the pattern of cancer in his or her family and how to prevent cancer or detect it as early as possible (e.g. through vigilant screening or taking part in chemoprevention studies). The availability of genetic testing for hereditary forms of colon cancer now gives families new opportunities to find out whether they carry a gene mutation that increases their risk of developing cancer. Some people decide to undergo genetic testing to find out if they carry a cancer-predisposing gene mutation. Potential psychological benefits of having genetic testing include: -The ability to find out whether or not one carries a cancer-predisposing gene mutation reduces the uncertainty surrounding one's risk of developing cancer -Gaining personal control over one's health and future may help one feel less vulnerable to cancer -Having more accurate knowledge of one's risk of developing cancer can help in making decisions about personal cancer screening needs and participating in studies to prevent cancer (e.g.chemoprevention trials). -Finding out that one does not carry a mutation may lessen one's worry and anxiety about developing cancer and lessen guilt about passing on a mutation to one's children.

There also are potential psychological drawbacks to genetic testing. Finding out that one carries a cancer-predisposing gene mutation can elicit reactions similar to that of a cancer diagnosis: increased anxiety; worry; feelings of isolation, anger, fear, and loss of control. Because people who have genetic testing are often aware of their cancer family histories, they often are not surprised to find out that they carry a mutation. In some cases, people who find that they do not carry a mutation will experience feelings of guilt because their siblings or other family members do carry it. Regardless of the outcome, news gained through genetic counseling and testing may be difficult to handle, and individuals may need extra support-from family, friends, and possibly mental health professionals-as they go through the process.

In some cases, the results of genetic testing may be ambiguous or inconclusive: it may not be possible to determine whether a particular mutation causes hereditary colon cancer. People who receive such results often gain no additional information about their personal or family risk of cancer, and they may be disappointed and frustrated by the experience. Ongoing research in hereditary colon cancer genetic testing may help clarify some of these ambiguous results in the future and help resolve some of these issues and concerns.

A cancer diagnosis primarily impacts the health of an individual, but the knowledge that one carries a gene mutation for hereditary cancer has direct implications for the health of others in the family. An individual who knows that he or she carries a mutation may, by virtue of that fact, have knowledge about others' genetic status. One of the first concerns of parents who find that they carry a hereditary colon cancer gene mutation is whether their children also carry the mutation. Coupled with this concern may be guilt about unknowingly passing on the mutation, worries about the future health of children and even grandchildren, a sense of being unable to protect one's children, and the possible impact on feelings or future decisions about having children. Parents may struggle with the decision of when and how to talk to children about their possible hereditary cancer risk. This decision may depend on whether it is recommended that children have genetic counseling and testing (as with familial adenomatous polyposis) or whether counseling and testing is recommended only for adults (as with hereditary nonpolyposis colon cancer).

The ways in which families cope with hereditary colon cancer may depend on who in the family has had cancer, at what age they were diagnosed, and the outcome. Some families discuss cancer very openly, others discuss it less openly, and still others do not discuss it at all. When and how families share information about hereditary cancer and genetic testing may be influenced by individual beliefs and feelings about the disease, the closeness of family members, how family members feel about one another (for example, some families may wish to protect certain members from unpleasant information), and how family members communicate in general. Genetic counselors can help people identify the best time and way to share information about hereditary cancer risk with their immediate and extended family members.

Because studies of genetic counseling and testing for hereditary colon cancer are relatively new, researchers continue to investigate the psychological impact that this process has on individuals and families. Researchers in the Department of Behavioral Science at M. D. Anderson Cancer Center and at other institutions across the country are conducting studies that look at the short- and long-term psychological impact of genetic counseling and testing for hereditary colon cancer on both individuals and families. Researchers are also looking at how participation in chemoprevention studies may affect peoples' perception of these conditions. Funded by the National Human Genome Research Institute of the National Institutes of Health, this state of the art research address critical questions, such as the following: How do individuals decide to have genetic counseling and genetic testing? How do individuals and families cope with information about hereditary cancer? How do families communicate about hereditary cancer and genetic testing? How well do individuals follow cancer screening recommendations? Findings from these studies will help doctors, genetic counselors, psychologists, and other researchers better understand some of the emotional concerns of hereditary cancer families and, in turn, provide optimal risk counseling and support through the genetic counseling and testing process.