For all my family's sake, I should go and find out: An Australian report on genetic counseling and testing uptake in individuals at high risk of breast and/or ovarian cancer

Abstract

Context: Despite proven benefits, the uptake of genetic counseling and testing by at-risk family members of BRCA1 and BRCA2 mutation carriers remains low. Aims: This study aimed to examine at-risk individuals’ reported reasons for and against familial cancer clinic (FCC) attendance and genetic testing. Methods: Thirty-nine telephone interviews were conducted with relatives of high-risk mutation carriers, 23% (n¼9) of whom had not previously attended an FCC. Interview responses were analyzed using the frameworks of Miles and Huberman. Results: The reasons most commonly reported for FCC attendance were for clarification of risk status and to gain access to testing. While disinterest in testing was one reason for FCC nonattendance, several individuals were unaware of their risk (n¼3) or their eligibility to attend an FCC (n¼2), despite being notified of their risk status through their participation in a large-scale research project. Individuals’ reasons for undergoing testing were in line with that reported elsewhere; however, concerns about discrimination and insurance were not reported in nontestees. Conclusions: Current guidelines regarding notifying individuals discovered to be at increased risk in a research, rather than clinical setting, take a largely nondirective approach. However, this study demonstrates that individuals who receive a single letter notifying them of their risk may not understand/value the information they receive.