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Genetics of Colorectal Cancer (PDQ®): Genetics - Health Professional Information [NCI] - 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...

Less is known about the long-term psychological impact of LS genetic counseling and testing beyond 1 year following notification of mutation carrier status. One study evaluated psychological outcomes up to 3 years after disclosure of mutation status.[54] Carriers' and noncarriers' 3-year mean scores on measures of depression, state anxiety, and cancer-specific distress were similar to scores obtained prior to genetic testing, with one exception: noncarriers' cancer-specific distress scores showed sustained decreased posttesting, and were significantly lower compared with their baseline scores and with carriers' scores at 1 year posttesting, with a similar trend observed at 3 years posttesting. In another study, 70 LS mutation carriers (including both cancer affected and unaffected persons) completed a cross-sectional survey between 6 months and 8.5 years after disclosure of test results; higher levels of cancer worry were associated with higher levels of perceived risk.[65]

Findings from some studies suggested that there may be subgroups of individuals at higher risk of psychological distress following disclosure of test results, including those who present with relatively higher scores on measures of general or cancer-specific distress before undergoing testing.[58,59,60,61,62,66] A study of CRC patients who had donated blood for LS testing found that higher levels of depressive symptoms and/or anxiety were found among women, younger persons, nonwhites, and those with less formal education and fewer and less satisfactory sources of social support.[58] A subgroup of individuals who showed higher levels of psychological distress and lower quality of life and social support were identified from the same population; in addition, this subgroup was more likely to worry about finding out that they were LS mutation carriers and being able to cope with learning their test results.[59] In a follow-up report that evaluated psychological outcomes following disclosure of test results among both CRC patients and relatives at risk of having a LS mutation, a subgroup with the same psychosocial characteristics experienced higher levels of general distress and distress specific to the experience of having genetic testing within the year after disclosure, regardless of mutation status. Nonwhites and those with lower education had higher levels of depression and anxiety scores at all times compared with whites and those with higher education, respectively.[61] Other studies have also found that a prior history of major or minor depression, higher pretest levels of cancer-specific distress, having a greater number of cancer-affected first-degree relatives, greater grief reactions, and greater emotional illness–related representations predicted higher levels of distress from 1 to 6 months after disclosure of test results.[62,66] While further research is needed in this area, case studies indicate that it is important to identify persons who may be at risk of experiencing psychiatric distress and to provide psychological support and follow-up throughout the genetic counseling and genetic testing process.[67]

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Last Updated: February 25, 2014
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