Disclosure patterns and decision making preferences in BRCA 1/2 mutation carriers with young adult and minor children

Abstract

1015 Background: Genetic testing of minors for adult-onset diseases has generally been discouraged. Yet, limited data suggests that many BRCA mutation carriers discuss their test results with their minor children. How parents make the decision to share this information and the effects on their health, their child and the family remains unknown. Methods: We sought to evaluate disclosure patterns and decision making practices among BRCA1/2 mutation carriers with children under the age of 25. 42 parents (with 86 children) completed a semi-structured telephone interview regarding communication of their genetic test results to their children. Chi-squared tests to assess associations between parent/child characteristics and disclosure were computed using robust variance estimates to account for clustering by family unit. Results: 55% of parents discussed hereditary risk of cancer and/or their genetic test results with at least one child. Factors associated with disclosure included older child age (p<0.001), female parent gender (p=0.049), parent history of prophylactic surgery (mastectomy: p = 0.021, oophorectomy: p<0.001) and education limited to high school (p=0.085). Child gender and parent’s history of cancer were not significantly associated with disclosure. Most participants reported themselves (45%) or their spouse (40%) as the most important person in the decision to disclose. Reports of physician (14%) and genetic counselor (21%) involvement were low. Conclusions: Parental decisions to disclose BRCA test results to children are complex and may reflect differences in perceptions of genetic disease. Further research is needed to understand parental motivations for disclosure and to define a role for health care professionals to improve counseling and recommendations regarding the risks and benefits of early communication of genetic risk to children. No significant financial relationships to disclose.