Young Alison Luk, Butow Phyllis N, Rhodes Paul, Tucker Katherine M, Williams Rachel, Healey Emma, Wakefield Claire E
School of Psychology, The University of Sydney, Sydney, NSW, Australia.
Behavioral Sciences Unit Proudly Supported by the Kids with Cancer Foundation, Kids Cancer Centre, Sydney Children's Hospital, Randwick, Australia.
J Genet Couns. 2019 Jun;28(3):516-532. doi: 10.1002/jgc4.1055. Epub 2019 Jan 29.
While family communication about a BRCA1 or BRCA2 (BRCA1/2) pathogenic variant can be a catalyst for the uptake of risk-reducing measures in young adults, disseminating information within families and across generations is complex. This study aimed to explore how young adults and their families communicate about a BRCA1/2 pathogenic variant, from a family systems perspective. In-depth family interviews and questionnaires (N = 67 individuals; 21 families) were completed at four metropolitan and regional genetic clinics in Australia. Data involved thematic analysis and interpretation based on family systems theory, including the use of standardized measures. Six key themes were identified and explored: (1) Responsibility to protect, (2) "It's a woman's problem," (3) Family culture influences communication, (4) Adversarial growth and connection, (5) Key events can be relational turning points, and (6) Health professionals can help. Family identities were solidified through the incorporation of a pathogenic variant in family scripts, while members of the family who held differing views to their families expressed less agreeableness and openness to disseminate information. The collective family's experience and perspective toward a pathogenic variant can influence a young adult's decision-making about genetic testing, risk-management, and family planning. The utilization of family therapy skills in routine practice would be helpful in facilitating communication and the inclusion of standardized measures is beneficial to identify individuals needing ongoing psychological support. Understanding relationship difficulties that arise from family members holding divergent views can offer insight into future research inquiry and areas of further training and clinical support.
虽然关于BRCA1或BRCA2（BRCA1/2）致病变异的家庭沟通可以促使年轻人采取降低风险的措施，但在家庭内部和跨代传播信息是复杂的。本研究旨在从家庭系统的角度探讨年轻人及其家庭如何就BRCA1/2致病变异进行沟通。在澳大利亚的四家大都市和地区性基因诊所完成了深入的家庭访谈和问卷调查（N = 67人；21个家庭）。数据涉及基于家庭系统理论的主题分析和解释，包括使用标准化测量方法。确定并探讨了六个关键主题：（1）保护责任，（2）“这是女性的问题”，（3）家庭文化影响沟通，（4）对抗性成长与联系，（5）关键事件可能是关系转折点，（6）健康专业人员可以提供帮助。通过将致病变异纳入家庭脚本，家庭身份得以巩固，而与家庭观点不同的家庭成员在传播信息方面表现出较低的随和性和开放性。家庭对致病变异的集体经验和观点会影响年轻人在基因检测、风险管理和计划生育方面的决策。在日常实践中运用家庭治疗技巧有助于促进沟通，纳入标准化测量方法有利于识别需要持续心理支持的个体。了解因家庭成员持有不同观点而产生的关系困难，可为未来的研究探索以及进一步培训和临床支持领域提供见解。
