Augestad Mirjam Tonheim, Høberg-Vetti Hildegunn, Bjorvatn Cathrine, Sekse Ragnhild Johanne Tveit
Western Norway Familial Cancer Center, Haukeland University Hospital, Haukelandsveien 22, P.O. Box 1400, N-5021, Bergen, Norway.
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.
J Genet Couns. 2017 Feb;26(1):182-189. doi: 10.1007/s10897-016-9996-z. Epub 2016 Jul 28.
Genetic testing for hereditary breast and ovarian cancer is increasingly being offered in newly diagnosed breast and ovarian cancer patients. This genetic information may influence treatment decisions. However, there are some concerns that genetic testing offered in an already vulnerable situation might be an extra burden to these women. The aim of this study was to explore the experiences of women who had been offered and accepted genetic testing when newly diagnosed with breast or ovarian cancer. Four semi-structured focus-group interviews were conducted with 17 women recruited from a Norwegian multicenter study. The material was condensed, and conventional qualitative analysis was used to identify patterns in the participants' descriptions. Three core themes were identified: 1) being "beside oneself" 2) altruism and ethical dilemmas 3) the need for support and counselling to assist the decision process. The present study indicates that women who are offered genetic testing when newly diagnosed with breast or ovarian cancer want a consultation with a health professional. Personalized support and counselling might empower women to improve their ability to manage and comprehend this overwhelming situation, and find meaning in this experience.
针对遗传性乳腺癌和卵巢癌的基因检测，在新确诊的乳腺癌和卵巢癌患者中越来越普遍。这种基因信息可能会影响治疗决策。然而，有人担心在患者已经处于脆弱状态时进行基因检测，可能会给这些女性带来额外负担。本研究的目的是探讨新诊断为乳腺癌或卵巢癌时接受基因检测的女性的经历。对从挪威一项多中心研究中招募的17名女性进行了四次半结构化焦点小组访谈。对材料进行了浓缩，并采用传统定性分析方法来识别参与者描述中的模式。确定了三个核心主题：1）“失去自我”；2）利他主义和伦理困境；3）在决策过程中需要支持和咨询。本研究表明，新诊断为乳腺癌或卵巢癌时接受基因检测的女性希望与健康专业人员进行咨询。个性化的支持和咨询可能会使女性有能力更好地应对和理解这种压倒性的情况，并从这段经历中找到意义。
