A prospective study of the impact of genetic susceptibility testing for BRCA1/2 or HNPCC on family relationships

Psychooncology. 2007 Apr;16(4):320-8. doi: 10.1002/pon.1062.

Abstract

This study assessed the impact of genetic testing for cancer susceptibility on family relationships and determinants of adverse consequences for family relationships. Applicants for genetic testing of a known familial pathogenic mutation in BRCA1/2 or a HNPCC related gene (N=271) rated the prevalence and nature of changes in family relationships, familial difficulties and conflicts due to genetic testing 6 months after receiving the test result. The level of family functioning, differentiation from parents, support and familial communication style regarding hereditary cancer were assessed before receiving the test result. Genetic testing affected some family relationships in a positive way (37%), i.e. by feeling closer, improved communication and support, more appreciation of the relative and relief of negative test result. A minority reported unwanted changes in relationships (19%), problematic situations (13%) or conflicts (4%). Adverse effects comprised feelings of guilt towards children and carrier siblings, imposed secrecy and communication problems. Predictors of adverse consequences on family relationships were reluctance to communicate about hereditary cancer with relatives and disengaged-rigid or enmeshed-chaotic family functioning. Open communication between relatives should be stimulated because a lack of open communication may be an important determinant of familial adverse effects.

MeSH terms

  • Adult
  • BRCA1 Protein / genetics*
  • BRCA2 Protein / genetics*
  • Breast Neoplasms* / epidemiology
  • Breast Neoplasms* / genetics
  • Breast Neoplasms* / psychology
  • Colorectal Neoplasms* / epidemiology
  • Colorectal Neoplasms* / genetics
  • Colorectal Neoplasms* / psychology
  • Communication
  • Demography
  • Family / psychology*
  • Family Relations
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Ovarian Neoplasms* / epidemiology
  • Ovarian Neoplasms* / genetics
  • Ovarian Neoplasms* / psychology
  • Point Mutation / genetics
  • Prospective Studies
  • Surveys and Questionnaires

Substances

  • BRCA1 Protein
  • BRCA2 Protein