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Psychosocial Issues in Hereditary Colon Cancer Syndromes

    Table 16. Summary of Prospective Studies Evaluating Participation in Genetic Counseling and Testing for Hereditary Colorectal Cancer (CRC)a,b,c continued...

    Another cross-sectional study conducted in the Netherlands found that among FAP patients, 37% indicated that the disease had influenced their desire to have children (i.e., wanting fewer or no children). Thirty-three percent indicated they would consider PND for FAP; 30% would consider PGD. Higher levels of guilt and more positive attitudes towards terminating pregnancy were associated with greater interest for both PND and PGD.[20] In a separate U.S. study, predictors of willingness to consider prenatal testing included having an affected child and experiencing a first-degree relative's death secondary to FAP.[27]

    The psychological vulnerability of children undergoing testing is of particular concern in genetic testing for FAP. Research findings suggest that most children do not experience clinically significant psychological distress following APC testing. As in studies involving adults, however, subgroups may be vulnerable to increased distress and would benefit from continued psychological support. A study of children who had undergone genetic testing for FAP found that their mood and behavior remained in the normal range after genetic counseling and disclosure of test results. Aspects of the family situation, including illness in the mother or a sibling were associated with subclinical increases in depressive symptoms.[72] In a long-term follow-up study of 48 children undergoing testing for FAP, most children did not suffer psychological distress; however, a small proportion of children tested demonstrated clinically significant posttest distress.[73] Another study found that although APC mutation–positive children's perceived risk of developing the disease increased after disclosure of results, anxiety and depression levels remain unchanged in the year following disclosure.[68] Mutation-negative children in this study experienced less anxiety and improved self-esteem over this same time period.

    Psychosocial Aspects of Screening and Risk Reduction Interventions for LS and FAP

    Colorectal screening for LS

    Benefits of genetic counseling and testing for LS include the opportunity for individuals to learn about options for the early detection and prevention of cancer, including screening and risk-reducing surgery. Studies suggest that many persons at risk of LS may have had some CRC screening before genetic counseling and testing, but most are not likely to adhere to LS screening recommendations. Among persons aged 18 years or older who did not have a personal history of CRC and who participated in U.S.-based research protocols offering genetic counseling and testing for LS, between 52% and 62% reported ever having had a colonoscopy before genetic testing.[39,41,74,75] Among cancer-unaffected persons who participated in similar research in Belgium and Australia, 51% and 68%, respectively, had ever had a colonoscopy before study entry.[57,76] Factors associated with ever having a colonoscopy before genetic testing included higher income and older age,[74] higher perceived risk of developing CRC,[76] higher education level, and being informed of increased risk of CRC.[75]

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