Psychosocial issues associated with genetic testing for breast and ovarian cancer risk: an integrative review

Cancer Invest. 2003;21(4):588-623. doi: 10.1081/cnv-120022380.

Abstract

The identification of the BRCA1/2 genes, and their possible etiologic relationship with various forms of inherited cancer, has been recognized universally as a cornerstone in the search for cancer's genetic link and has made it possible to identify specific individuals and families who harbor a mutation in one of these predisposition genes. Genetic testing for breast and ovarian cancer susceptibility may pose unanticipated psychological and social problems. Because of the recent availability of predisposition genetic testing, research efforts have begun to investigate factors that may influence an individual's intention to undergo testing and the psychosocial sequelae associated with testing. The purpose of this article is to provide an integrative review of the literature that will delineate what is currently known about the psychosocial issues associated with genetic testing for breast and ovarian cancer risk. Important generalizations from the literature include: (a) a positive test for breast cancer susceptibility may ignite a psychological response similar to the diagnosis of breast cancer itself; (b) there is likely a subset of individuals at increased risk for hereditary breast and ovarian cancer who are also at risk for sustained psychosocial problems; (c) available literature challenges a common notion that only individuals with a positive test result will need psychosocial services; and (d) at-risk individuals are basing health care decisions on genetic testing information, thus they are making important decisions under conditions of uncertainty. Clinical issues and directions for future research were highlighted.

Publication types

  • Review

MeSH terms

  • Breast Neoplasms / diagnosis
  • Breast Neoplasms / genetics*
  • Breast Neoplasms / psychology*
  • Decision Making
  • Female
  • Genes, BRCA1*
  • Genes, BRCA2*
  • Genetic Counseling
  • Genetic Predisposition to Disease*
  • Genetic Testing / psychology*
  • Humans
  • Ovarian Neoplasms / diagnosis
  • Ovarian Neoplasms / genetics*
  • Ovarian Neoplasms / psychology*
  • Patient Education as Topic
  • Pedigree
  • Risk Assessment
  • Social Support
  • Stress, Psychological*