Psychological distress and quality of life associated with genetic testing for breast cancer risk.


Journal Article

This study investigated short- and long-term psychological outcomes associated with BRCA1/2 genetic testing in women with a personal or family history of breast cancer. Participants included 126 women considering genetic testing. Questionnaires were administered prior to testing, one week, three and six months after result disclosure. Results indicated no systematic effects of testing based on personal cancer history. Mutation carriers and women who elected not to be tested reported greater perceived risk and intrusive and avoidant thoughts at follow-up time points than did women who received negative (uninformative) or variant results. Mutation carriers reported more distress at the three-month follow-up but by six months the effects of test result on distress dissipated and groups were comparable. Cluster analyses identified two groups of individuals based on distress at baseline; these groups were used to predict psychological outcomes after testing. Distress remained constant in both groups: those who were high at baseline remained high and those who were low remained low. Test results did not moderate this effect. Results suggest that genetic testing for BRCA1/2 does not increase distress or have deleterious effects on quality of life over the long term. However, sub-groups of women may report more distress over time. These data indicate the need for more targeted counseling to individuals who report high levels of distress when considering genetic testing.

Full Text

Duke Authors

Cited Authors

  • Smith, AW; Dougall, AL; Posluszny, DM; Somers, TJ; Rubinstein, WS; Baum, A

Published Date

  • August 2008

Published In

Volume / Issue

  • 17 / 8

Start / End Page

  • 767 - 773

PubMed ID

  • 17992698

Pubmed Central ID

  • 17992698

Electronic International Standard Serial Number (EISSN)

  • 1099-1611

Digital Object Identifier (DOI)

  • 10.1002/pon.1291


  • eng

Conference Location

  • England