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Psychosocial Issues in Inherited Breast Cancer Syndromes


    A small (N = 25) qualitative study of BRCA mutation–positive women of reproductive age who underwent genetic testing before having children evaluated how their BRCA status influenced their attitudes about reproductive genetic testing (both PGD and PND) and decisions about having children.[177] In this study, the decision to undergo BRCA testing was primarily motivated by the desire to manage one's personal cancer risk, rather than a desire to inform future reproductive decisions. The perceived severity of HBOC influenced concerns about passing on a BRCA mutation to children and also influenced willingness to consider PGD or PND and varied based on personal experience. Most did not believe that BRCA mutation–positive status was a reason to terminate a pregnancy. As observed in prior studies, knowledge of reproductive options varied; however, there was a tendency among participants to view PGD as more acceptable than PND with regard to termination of pregnancy. Decisions regarding the pros and cons of PGD versus PND with termination of pregnancy were driven primarily by personal preferences and experiences, rather than by morality judgments. For example, women were deterred from PGD based on the need to undergo in vitro fertilization and to take hormones that might increase cancer risk and based on the observed experiences of others who underwent this procedure.

    One study has examined these issues among high-risk men recruited from FORCE and Craigslist (a bulletin board Web site) (N = 228).[178] Similar to the previous studies of women, only 20% of men were aware of PGD prior to survey participation. In a multivariate analysis, those who selected the "other" option for possible benefits of PGD compared with those who selected from several predetermined options (e.g., having children without genetic mutations) and those who considered PGD in the context of religion (as opposed to health and safety) were less likely to report that they would ever consider using PGD.

    Cultural/Community Effects

    The recognition that BRCA1/BRCA2 mutations are prevalent, not only in breast/ovarian cancer families but also in some ethnic groups,[179] has led to considerable discussion of the ethical, psychological, and other implications of having one's ethnicity be a factor in determination of disease predisposition. Fears of genetic reductionism and the creation of a genetic underclass [180] have been voiced. Questions about the impact on the group of being singled out as having genetic vulnerability to breast cancer have been raised. There is also confusion about who gives or withholds permission for the group to be involved in studies of their genetic identity. These issues challenge traditional views on informed consent as a function of individual autonomy.[181]


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