Experiences of Women Who Underwent Predictive BRCA 1/2 Mutation Testing Before the Age of 30

Abstract

This qualitative interview study focuses on the experiences of a sample of British female BRCA 1/2 carriers who had predictive testing before the age of 30, which is the minimum age for breast screening in the UK. Following appropriate informed consent procedures participants were recruited through the Cancer Genetics Service for Wales. Semi-structured interviews were conducted face-to-face with seven participants, transcribed in full and analyzed using thematic analysis. The motives for testing and perceived advantages described by participants were similar to those identified in previous studies with older participants, such as increased awareness and knowledge and feeling more in control. However some of the perceived disadvantages were specific to younger women, including feeling pressured to make important life decisions earlier than they would have liked, such as about family planning and risk reducing surgery. Participants also reported feeling abandoned or forgotten because of lack of ongoing clinical contact, or feeling "stuck waiting" for screening to begin. However, none felt that these disadvantages were a reason to regret having testing. Findings in this small study suggest that having BRCA 1/2 predictive testing can have positive outcomes for young women even though they may be unable to access interventions such as breast screening. However it may be helpful to encourage young women during pre-test counseling to explore the decisions and choices they may face. These young women could benefit from ongoing support and follow up and increased interaction with healthcare professionals.

Patient experience and utility of genetic information: a cross-sectional study among patients tested for cancer susceptibility and thrombophilia

“…non-carriers reported a better quality of life than carriers. This is in line with results obtained by other studies that analysed carrier status as a potential determinant of patient experience outcomes [29][30][31][32][33][34][35][36]. Carrying a diseasepredisposing variant may cause problems for patients seeking insurance (depending on the health-care context); patients may also experience stigmatization and anxiety for their future health, all of which can be assumed to affect quality of life [29][30][31][32][33][34][35][36].…”

What Results Should Be Returned from Opportunistic Screening in Translational Research?

“…Participants valued their test results and believed that they were "helpful." They were happy to have participated in eMERGE and neither regretted having done so nor experienced adverse sequelae, which is consistent with other studies [30,31]. However, characterizing the results as helpful does not necessarily mean that they were clinically relevant, as most participants received results that were not considered actionable.…”

Population screening for BRCA1/BRCA2 mutations: lessons from qualitative analysis of the screening experience

“…Participants in this study-carriers and noncarriers, those with or without a suggestive family history-indicated high overall satisfaction with the screening process. Their main motivation was similar to that of individuals who undergo traditional clinical testing: [17][18][19] the desire to know their genetic status in order to reduce cancer risks.…”