Psychological outcomes and risk perception after genetic testing and counselling in breast cancer: a systematic review

Med J Aust. 2003 Jan 20;178(2):77-81. doi: 10.5694/j.1326-5377.2003.tb05069.x.


Objectives: To conduct a systematic review of the effects of genetic counselling and testing for familial breast cancer on women's perception of risk and psychological morbidity.

Data sources: MEDLINE, PsychLIT and EMBASE were searched for the period 1980-2001.

Study selection: Studies were eligible if published in a peer-reviewed journal in English, included women with a family history of breast cancer who underwent genetic counselling or testing and had either a randomised controlled trial or prospective design, with a pre- and at least one post-counselling assessment.

Data synthesis: As there was considerable heterogeneity in populations and measures, results were summarised rather than subjected to meta-analysis.

Results: Overall, genetic counselling and testing appear to produce psychological benefits and to improve accuracy of risk perception. Carriers of mutations in cancer predisposition genes did not experience significant increases in depression and anxiety after disclosure of their mutation status, while non-carriers experienced significant relief. Women who were tested but declined to learn their results seemed to be at greater risk of a worse psychological outcome.

Conclusions: To date, the data on psychological outcomes after genetic counselling and testing are reassuring. However, few studies used a randomised trial design, limiting the strength of the conclusions. Follow-up to date has been short, and we know little about the long-term impact of testing on patient behaviours, perceptions and psychological state.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review
  • Systematic Review

MeSH terms

  • Adaptation, Psychological
  • Anxiety
  • Breast Neoplasms / genetics*
  • Breast Neoplasms / prevention & control*
  • Depression
  • Directive Counseling*
  • Female
  • Genetic Testing / psychology*
  • Health Knowledge, Attitudes, Practice*
  • Humans
  • Outcome and Process Assessment, Health Care
  • Perception
  • Risk