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Genetics of Breast and Ovarian Cancer (PDQ®): Genetics - Health Professional Information [NCI] - Psychosocial Issues in Inherited Breast and Ovarian Cancer Syndromes

Table 13. Predictors Associated with Uptake of Genetic Testing (GT) continued...

What People Bring to Genetic Testing: Impact of Risk Perception, Health Beliefs, and Personality Characteristics

The emerging literature in this area suggests that risk perceptions, health beliefs, psychological status, and personality characteristics are important factors in decision-making about breast/ovarian cancer genetic testing. Many women presenting at academic centers for BRCA1/BRCA2 testing arrive with a strong belief that they have a mutation, having decided they want genetic testing, but possessing little information about the risks or limitations of testing.[60] Most mean scores of psychological functioning at baseline for subjects in genetic counseling studies were within normal limits.[61] Nonetheless, a subset of subjects in many genetic counseling studies present with elevated anxiety, depression, or cancer worry.[62,63] Identification of these individuals is essential to prevent adverse outcomes. In a study of 205 women pursuing genetic counseling, interactions among cancer worry, breast cancer risk perception, and perceived severity of having a breast cancer gene mutation were found such that those with high worry, high breast cancer risk perception, and low perceived severity were twice as likely to follow through with BRCA1/BRCA2 testing than others.[64]

A general tendency to overestimate inherited risk of breast and ovarian cancer has been noted in at-risk populations,[65,66,67] in cancer patients,[66,68,69] in spouses of breast and ovarian cancer patients,[70] and among women in the general population.[71,72,73] but underestimation of breast cancer risk in higher-risk and average-risk women also has been reported.[74] This overestimation may encourage a belief that BRCA1/BRCA2 genetic testing will be more informative than it is currently thought to be. Some evidence exists that even counseling does not dissuade women at low to moderate risk from the belief that BRCA1 testing could be valuable.[36] Overestimation of both breast and ovarian cancer risk has been associated with nonadherence to physician-recommended screening practices.[75,76] A meta-analysis of 12 studies of outcomes of genetic counseling for breast/ovarian cancer showed that counseling improved the accuracy of risk perception.[77]

Women appear to be the prime communicators within families about the family history of breast cancer.[78] Higher numbers of maternal versus paternal transmission cases are reported,[79] likely due to family communication patterns, to the misconception that breast cancer risk can only be transmitted through the mother, and to the greater difficulty in recognizing paternal family histories because of the need to identify more distant relatives with cancer. In an analysis of 2,505 women participating in the Family Healthware Impact Trial,[80] not only was evidence of underreporting of paternal family history identified, but also women reported a lower level of perceived breast cancer risk with a paternal versus maternal breast cancer family history.[81] Physicians and counselors taking a family history are encouraged to elicit paternal and maternal family histories of breast, ovarian, or other associated cancers.[78]

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