Psychological impact of genetic testing for breast cancer susceptibility in women of Ashkenazi Jewish background: a prospective study

Genet Test. Fall 2004;8(3):240-7. doi: 10.1089/gte.2004.8.240.


The recognition that the prevalence of three founder mutations in the BRCA1 and BRCA2 genes is over 2% in Ashkenazi Jews has resulted in numerous epidemiological research studies of this ethno-religious group. To determine the effects of incorporating research into clinical practice, a psychological impact study of women participating in an epidemiological study was conducted. Sixty women of Ashkenazi Jewish background who underwent genetic testing for founder mutations were assessed using mailed, self-administered questionnaires with validated measures of psychological outcome. Forty-three women elected to learn their results and 17 women declined to do so. Women who elected to learn their results were also assessed 7-10 days, 4 months, and 12 months after results disclosure. Women who chose to learn their results had significantly higher baseline breast cancer anxiety, compared to those who elected not to learn their results (z = -2.27; p = 0.023). Unaffected women who elected to learn their results showed a significant decrease in breast cancer anxiety 4 months (z = -2.37, p = 0.018) and 12 months (z = -3.06, p = 0.002) post-notification compared to baseline. Genetic testing for mutations common in Ashkenazi Jewish women with result disclosure does not lead to adverse psychological outcomes.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Aged
  • Breast Neoplasms / diagnosis*
  • Breast Neoplasms / ethnology
  • Breast Neoplasms / genetics
  • Disclosure
  • European Continental Ancestry Group / ethnology
  • Female
  • Genes, BRCA1*
  • Genes, BRCA2*
  • Genetic Counseling / psychology
  • Genetic Predisposition to Disease / ethnology
  • Genetic Predisposition to Disease / genetics
  • Genetic Testing / psychology*
  • Humans
  • Jews / genetics*
  • Jews / psychology
  • Middle Aged
  • Prospective Studies
  • Risk Factors