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Short‐ and Long‐Term Impact of Receiving Genetic Mutation Results in Women at Increased Risk for Hereditary Breast Cancer
Author(s) -
Lim Jacqueline,
Macluran Mariette,
Price Melanie,
Bennett Barbara,
Butow Phyllis
Publication year - 2004
Publication title -
journal of genetic counseling
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.867
H-Index - 52
eISSN - 1573-3599
pISSN - 1059-7700
DOI - 10.1023/b:jogc.0000018822.56297.a6
Subject(s) - genetic counseling , breast cancer , medicine , context (archaeology) , genetic testing , family history , lynch syndrome , cancer , gynecology , family medicine , genetics , surgery , paleontology , biology , colorectal cancer , dna mismatch repair
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.