Kajula Outi, Kuismin Outi, Kyngäs Helvi
Research Unit of Nursing Science and Health Management, Faculty of Medicine, University of Oulu, P.O. Box 5000, 90014, Oulu, Finland.
Medical Research Center, Oulu University Hospital and University of Oulu, 90014, Oulu, Finland.
J Genet Couns. 2018 Aug;27(4):874-884. doi: 10.1007/s10897-017-0209-1. Epub 2018 Jan 13.
Earlier studies have explored post-identification experiences of male BRCA1/2 mutation carriers, but more detailed knowledge of both their experiences and effects of identification as a carrier on their lives is required to improve genetic counseling. Thus, the aim of this study was to acquire deeper and broader insights into their experiences. Qualitative data were collected from theme-based interviews with 31 men carrying BRCA1/2 mutations in Finland, and analyzed using inductive content analysis. Three categories of the participants' responses to identification as BRCA1/2 mutation carriers were identified (personal, offspring-related and related to other relatives), mainly concerning issues associated with cancer, hereditary transmission of their mutations, and life decisions. Although there were many neutral responses regarding the issues, there were also strong emotional reactions and cancer worries. Identification as a carrier also had several effects on participants' lifestyles, including adoption of healthier and disease-preventing behavior, and social well-being, such as family planning and attitudes to life. The results provide detailed information about several aspects of male BRCA1/2 mutation carriers' experiences, which could be used to develop a tentative model of tailored genetic counseling for them.
早期研究探讨了男性BRCA1/2基因突变携带者确诊后的经历,但为了改进遗传咨询,我们还需要更详细地了解他们的经历以及确诊为携带者对其生活的影响。因此,本研究的目的是更深入、更广泛地了解他们的经历。我们从对芬兰31名携带BRCA1/2基因突变的男性进行的主题访谈中收集了定性数据,并采用归纳式内容分析法进行分析。确定了参与者对确诊为BRCA1/2基因突变携带者的三类反应(个人、与后代相关以及与其他亲属相关),主要涉及与癌症、突变的遗传传递以及生活决策相关的问题。尽管对于这些问题有许多中性反应,但也有强烈的情绪反应和对癌症的担忧。确诊为携带者对参与者的生活方式也有若干影响,包括采取更健康的预防疾病行为以及社会幸福感,如计划生育和生活态度。研究结果提供了有关男性BRCA1/2基因突变携带者经历多个方面的详细信息,可用于为他们制定一个初步的个性化遗传咨询模型。