Short‐ and Long‐Term Impact of Receiving Genetic Mutation Results in Women at Increased Risk for Hereditary Breast Cancer

Abstract

Forty-seven unaffected women from high-risk breast cancer families who had received results for hereditary breast/ovarian predisposition genes between 1 month and 5 years ago were interviewed regarding their experiences. Women responded to open-ended questions. The initial emotional turmoil reported by most was generally short lived. However, the impact of genetic testing went beyond the individual to the extended family and social context, particularly in the short-term. A common theme was the difficulty associated with divulging a result to family members, who were also adjusting to their own result. The majority of carriers reported advantages that were both physical (options for surveillance programs and prophylactic surgery) and emotional (reduced uncertainty, increased awareness of options and knowledge about risk, preparation time). Most carriers reported no change in lifestyle although some reported discovering their mutation status as a positive life-changing experience. Implications for genetic counseling and further research are discussed.

Living with Hereditary Non‐polyposis Colorectal Cancer; Experiences from and Impact of Genetic Testing

“…With the responsibility to inform family members follows decisions about whether contact should be taken with relatives of diseased family members, which family member is best suited and willing to deliver the news, and choosing the right time. Unaffected women in families with hereditary breast cancer have, in line with our findings, reported that the impact of genetic testing extends to family members and social contexts (Lim et al, 2004). Family members are perceived as the best informants, but support in this process from health care is commonly requested (Pentz et al, 2005).…”

Psychiatric implications of cancer genetic testing

“…32,33,40,[57][58][59][60][61][62] Nonetheless, women who test positive for BRCA1/BRCA2 are also often met with resistance, shock, and other negative emotions from family members. [63][64][65][66] Similarly studies of individuals undergoing HNPCC testing demonstrate that the individual experiences of both unaffected and affected carriers are varied, but the majority experience an overall decrease in anxiety and depression. 12,33,67 Some studies indicate that HNPCC carriers will first experience an immediate (2-4 weeks) but temporary increase in general anxiety after result disclosure.…”

The FAP self-concept scale (adult form)

“…The notion of a ''genetic self'' has been described by Read et al [23] and Schild [22,24] who introduced the notion of a ''genetic identity'' [23][24][25]. A qualitative study [26] found that although the majority of women carrying mutations for cancer did not report a change in lifestyle, some women experience a sense of ''living with cancer'' throughout their lifetime, and mutation-negative women described ''feeling normal for the first time''. Other documented reports include a reevaluation of life priorities [26,27].…”

“…A qualitative study [26] found that although the majority of women carrying mutations for cancer did not report a change in lifestyle, some women experience a sense of ''living with cancer'' throughout their lifetime, and mutation-negative women described ''feeling normal for the first time''. Other documented reports include a reevaluation of life priorities [26,27]. Reactions can also include a need to prepare emotionally for the time of illness, a loss of innocence and a sense of ongoing intrusive thoughts about health [26,28].…”