Parkville Familial Cancer Centre and Genomic Medicine Department, Peter MacCallum Cancer Centre and the Royal Melbourne Hospital, Parkville, Victoria, Australia.
Department of Paediatrics, The University of Melbourne, Parkville, Victoria, Australia.
Psychooncology. 2020 Aug;29(8):1303-1311. doi: 10.1002/pon.5436. Epub 2020 Jul 9.
Genetic testing for hereditary breast and ovarian cancer (HBOC) due to pathogenic variants in BRCA1 or BRCA2 is why most women present to familial cancer centers. Despite being assessed as low risk for HBOC, many women proceed with genetic testing. This study explored the genetic testing experiences of unaffected women at low risk of HBOC to clarify what motivates these women to have testing, and what are the implications of the results.
A qualitative approach was taken. Participants included women who had genetic testing for HBOC from 2016-2018 at the Parkville Familial Cancer Centre in Melbourne, Australia. In-depth, semi-structured interviews were conducted, and thematic analysis was undertaken on transcripts; transcripts were coded, codes were organized into a hierarchical system of categories/subcategories, and key themes were identified.
Analysis of 19 transcripts identified five themes: family underpinned all motivators for HBOC genetic testing; health professionals were influential throughout the process; participants were planning for a positive result; results influenced screening-anxiety and frequency; and negative results gave participants relief in many different ways. The three participants with positive results reported feeling shocked at the results and empowered giving this information to family members.
Women at low HBOC risk may be motivated to seek genetic testing, and access to this is increasingly offered through non-genetic health professionals. Professionals can support clients through genetic testing by recognizing familial experiences, providing accurate information, addressing risk perceptions, and understanding cancer anxiety felt by many women.
由于 BRCA1 或 BRCA2 中的致病变异，遗传性乳腺癌和卵巢癌（HBOC）的基因检测是大多数女性前往家族癌症中心的原因。尽管被评估为 HBOC 低风险，但许多女性仍进行基因检测。本研究探讨了低 HBOC 风险未受影响的女性的基因检测经历，以阐明是什么促使这些女性进行检测，以及检测结果的意义。
采用定性方法。参与者包括 2016 年至 2018 年在澳大利亚墨尔本帕克维尔家族癌症中心进行 HBOC 基因检测的女性。对转录本进行深入的半结构化访谈，并进行主题分析；对转录本进行编码，将代码组织成层次系统的类别/子类别，并确定关键主题。
对 19 份转录本的分析确定了五个主题：家庭是 HBOC 基因检测所有动机的基础；健康专业人员在整个过程中都有影响力；参与者正在为阳性结果做计划；结果影响筛查焦虑和频率；阴性结果以多种不同的方式给参与者带来解脱。三位阳性结果的参与者报告说，对结果感到震惊，并有权将此信息提供给家庭成员。
低 HBOC 风险的女性可能有动机寻求基因检测，而且越来越多的非遗传健康专业人员提供这种检测。专业人员可以通过识别家族经验、提供准确信息、解决风险认知和理解许多女性感到的癌症焦虑来支持客户进行基因检测。
