Johnsen Kjærsti Busk, Strømsvik Nina
Northern Norway Familial Cancer Center, Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway.
J Genet Couns. 2025 Apr;34(2):e1980. doi: 10.1002/jgc4.1980. Epub 2024 Sep 28.
In Norway, genetic testing is permitted from the age of 16, and females identified with pathogenic variants in the BRCA1 or BRCA2 genes (BRCA PVs) can manage their cancer risk through screening programs and/or by undergoing risk-reducing surgery from the age of 25 years'. This qualitative study aimed to explore and describe how women under the age of 25 years' experience the genetic counseling and testing process for BRCA PVs and living with an increased cancer risk. Semi-structured individual interviews were conducted with five women with BRCA PVs. Thematic cross-case data analysis with systematic text condensation was used. Three main themes were identified: (1) experience with genetic counseling and testing, (2) impact of pathogenic variants on participants' future, and (3) social and psychological support needs. Women perceive genetic counseling as a source of information and care. The decision for genetic testing was made autonomously, both in line with and conflicting with the parents' wishes. Living with genetic risk adds a layer of worry and pressure regarding future decisions. Many experienced loneliness owing to a lack of contact with other young women with BRCA PVs. The results of this study indicate the need for better support after genetic testing, such as the need for educational support groups specially designed for these young women and a meeting place with their peers. Genetic counselors need to emphasize the opportunity for follow-up counseling and give assistance to choose suitable psychologists.
在挪威，16岁起允许进行基因检测，被鉴定出BRCA1或BRCA2基因存在致病性变异（BRCA PVs）的女性可从25岁起通过筛查项目和/或接受降低风险手术来管控自身的癌症风险。这项定性研究旨在探索和描述25岁以下女性对BRCA PVs基因咨询与检测过程以及在癌症风险增加的情况下生活的体验。对五名携带BRCA PVs的女性进行了半结构化的个人访谈。采用了带有系统文本浓缩的主题跨案例数据分析方法。确定了三个主要主题：（1）基因咨询与检测的体验，（2）致病性变异对参与者未来的影响，（3）社会和心理支持需求。女性将基因咨询视为信息和关怀的来源。基因检测的决定是自主做出的，这与父母的意愿既有一致之处，也存在冲突。带着基因风险生活给未来的决策增添了一层担忧和压力。许多人因缺乏与其他携带BRCA PVs的年轻女性的联系而感到孤独。这项研究的结果表明，基因检测后需要更好的支持，比如需要为这些年轻女性专门设立教育支持小组以及一个她们与同龄人相聚的场所。基因咨询师需要强调后续咨询的机会，并协助她们选择合适的心理医生。
