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Experiences of women who underwent predictive BRCA 1/2 mutation testing before the age of 30

Brunstrom, Kate, Murray, Alexandra and McAllister, Marion 2016. Experiences of women who underwent predictive BRCA 1/2 mutation testing before the age of 30. Journal of Genetic Counselling 25 (1) , pp. 90-100. 10.1007/s10897-015-9845-5

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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.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: R Medicine > R Medicine (General)
Uncontrolled Keywords: Predictive testing, BRCA 1/2 genetic mutations, Young women, Hereditary breast and ovarian cancer, Genetic testing, BRCA 1/2 carriers, United Kingdom
Publisher: Springer
ISSN: 1059-7700
Date of Acceptance: 29 April 2015
Last Modified: 28 Jun 2019 03:28
URI: https://orca.cardiff.ac.uk/id/eprint/84831

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