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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...

    FAP

    The uptake for genetic testing for FAP may be higher than testing for LS. A study of asymptomatic individuals in the United States at risk of FAP who were enrolled in a CRC registry and were offered genetic counseling found that 82% of adults and 95% of minors underwent genetic testing.[47] Uptake rates close to 100% have been reported in the United Kingdom.[19] A possible explanation for the greater uptake of APC genetic testing is that it may be more cost-effective than annual endoscopic screening [52] and can eliminate the burden of annual screening, which must often be initiated before puberty. The opportunity to eliminate worry about potential risk-reducing surgery is another possible benefit of genetic testing for FAP. The decision to have APC genetic testing may be viewed as a medical management decision;[53] the potential psychosocial factors that may influence the testing decision are not as well studied for FAP as for other hereditary cancer syndromes.

    The higher penetrance of APC mutations and earlier onset of disease also may influence the decision to undergo genetic testing for this condition, possibly due to a greater awareness of the disease and more experience with multiple family members being affected. Clinical observations suggest that children who have family members affected with FAP are very aware of the possibility of risk-reducing surgery, and focus on the test result as the factor that determines the need for such surgery.[47] It is important to consider the timing of disclosure of genetic test results to children in regard to their age, developmental issues, and psychological concerns about FAP. Children who carry an FAP mutation have expressed concern regarding how they will be perceived by peers and might benefit from assistance in formulating an explanation for others that preserves self-esteem.[47]

    Psychological Impact of Participating in Hereditary CRC Genetic Counseling and Testing

    LS

    Studies have examined the psychological status of individuals before, during, and after genetic counseling and testing for LS. Some studies have included only persons with no personal history of any LS-associated cancers,[54,55,56,57] and others have included both CRC patients and cancer-unaffected persons who are at risk of having a LS mutation.[58,59,60,61,62] Cross-sectional evaluations of the psychosocial characteristics of individuals undergoing LS genetic counseling and testing have indicated that mean pretest scores of psychological functioning for most participants are within normal limits,[58,59,60] although one study comparing affected and unaffected individuals showed that affected individuals had greater distress and worry associated with LS.[63]

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