University of Sydney School of Psychology  
  Current Students   Future Students   Our Academic Staff   Research   Clinic   Staff Resources   Search  
Paper in the Journal of Genetic Counseling

  • Jacqueline Lim, Mariette Macluran, Melanie Price, Barbara Bennett and Phyllis Butow (2004). Short- and Long-Term Impact of Receiving Genetic Mutation Results in Women at Increased Risk for Hereditary Breast Cancer. Journal of Genetic Counseling 13(2), 115-133.


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.