The Impact of Genetic Testing in Women with a Diagnosis and Family History of Breast Cancer
: A Qualitative Investigation of Patient Experience

  • Pauline Elizabeth Armory

    Student thesis: Master's ThesisMaster of Science


    Personalised Medicine has the potential to impact cancer prevention, diagnosis, treatment and prognosis. Today efficient, affordable and available early BRCA1/2 screening techniques are now feasible and can provide results to inform treatment. However BRCA1/2 testing, undertaken close to cancer diagnosis, can represent an added burden for patients during a highly stressful time. This study aimed to investigate BRCA1/2 gene testing experiences and the impact these have on treatment decisions in women with hereditary breast cancer.
    In-depth interviews with 17 women explored genetic knowledge, test timing and impact of results on treatment choices. Secondary data analysis has been conducted using 5 interview recordings, obtained from a previous study. Inductive analysis, based on Grounded Theory, has been assisted by the Framework Approach. Comparative methods have produced rich qualitative data that illustrates diverse genetic testing experiences, opinions and treatment decisions.
    Personalised treatment to maximise survival was identified as a significant factor in patient support and uptake of early BRCA1/2 testing. Participants propose that ‘it makes sense’ to obtain early genetic information. Genetic status can be used to inform and assist ‘tailored treatment’ decisions, including risk-reducing interventions.
    Clinical progression towards early genetic testing to inform treatment for newly diagnosed hereditary breast cancer appears to be acceptable and feasible. The offer of a genetic test at the time of diagnosis is new in the field of cancer genetics, we need to optimise the way in which this technique is used to provide health advantage for patients and clinicians. Future study should focus on the acceptability of the integration of personalised medicine techniques, within current clinical pathways.
    Date of Award2015
    Original languageEnglish
    SupervisorJonathan Berg (Supervisor) & Annie Anderson (Supervisor)


    • Breast cancer genetics
    • Qualitative
    • Breast cancer
    • Patient experience
    • BRCA
    • Genetic testing

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