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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...

Several longitudinal studies have evaluated psychological outcomes before genetic counseling and testing for LS and at multiple time periods in the year following disclosure of test results. One study examined changes in anxiety based on personal cancer history, gender, and age (younger than 50 years vs. older than 50 years) prior to and 2 weeks after a pretest genetic-counseling session. Affected and unaffected female participants in both age groups and affected men older than 50 years showed significant decreases in anxiety over time. Unaffected men younger than 50 years maintained low levels of anxiety; however, affected men younger than 50 years showed no reductions in the anxiety levels reported at the time of pretest counseling.[64] A study that evaluated psychological distress 8 weeks postcounseling (prior to disclosure of test results) among both affected and unaffected individuals found a significant reduction in general anxiety, cancer worry, and distress.[63] In general, findings from studies within the time period immediately following disclosure of mutation status (e.g., 2 weeks to 1 month) suggested that MMR mutation carriers may experience increased general distress,[56,61] cancer-specific distress,[54,55] or cancer worries [61] relative to their pretest measurements. Carriers often experienced significantly higher distress following disclosure of test results compared with individuals who do not carry a mutation previously identified in the family (noncarrier).[54,55,56,61] However, in most cases, carriers' distress levels subsided during the course of the year after disclosure [56,61] and did not differ from pretest distress levels at 1 year postdisclosure.[54,55] Findings from these studies also indicated that noncarriers experienced a reduction or no change in distress up to a year following results disclosure.[54,55,56,61] A study that included unaffected individuals and CRC patients found that distress levels among patients did not differ between carriers and individuals who received results that were uninformative or showed a variant of unknown significance at any point up to 1 year posttest and were similar compared with pretest distress levels.[62]

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]

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