BPS Centre for Outcome Research and Effectiveness (CORE), Research Department of Clinical, Educational and Health Psychology, University College London, London, UK.
Eur J Hum Genet. 2010 Dec;18(12):1289-95. doi: 10.1038/ejhg.2010.114. Epub 2010 Jul 21.
Genetic testing for hereditary breast and ovarian cancer reveals significant risk information regarding one's chances of developing cancer that has potential implications for patients and their families. This study reports on the motivations and attitudes of index patients and their relatives towards genetic testing for hereditary breast and ovarian cancer. In total, 10 female index patients and 20 of their relatives were interviewed regarding their experiences of communicating genetic information within their families, and their motivations and attitudes towards genetic testing. The analysis found two types of 'family groups': groups strongly committed to genetic testing and groups uncertain about testing. Within committed family groups, index patients and their relatives felt obliged to be tested for others, leading some relatives to be tested without having fully thought through their decision or the implications of knowing their mutation status. These family groups also described considerations in relation to the value of testing for themselves. In family groups uncertain about testing, relatives had not attended for predictive testing, had postponed decision making until some point in the future or had expressed ambivalence about the value of testing for themselves. Results suggest the value of explicitly acknowledging motivations for genetic testing within the context of family obligations, relationships and communication, and the possible value of involving family members in genetic counselling and decision making from a family's first contact with genetic services.
遗传性乳腺癌和卵巢癌的基因检测揭示了个体患癌症的风险信息,这对患者及其家属具有潜在影响。本研究报告了索引患者及其亲属对遗传性乳腺癌和卵巢癌基因检测的动机和态度。共有 10 名女性索引患者和 20 名亲属接受了采访,内容涉及他们在家庭中交流遗传信息的经验,以及他们对基因检测的动机和态度。分析发现了两种“家庭群体”:强烈支持基因检测的群体和对检测持不确定态度的群体。在坚定的家庭群体中,索引患者及其亲属感到有义务为他人进行检测,导致一些亲属在没有充分考虑自己的决定或了解突变状态的影响的情况下进行了检测。这些家庭群体还描述了与自身检测价值相关的考虑因素。在对检测持不确定态度的家庭群体中,亲属没有接受预测性检测,将决策推迟到未来的某个时间点,或者对自身检测的价值表示矛盾。研究结果表明,在家庭义务、关系和沟通的背景下,明确承认基因检测的动机具有价值,并且从家庭与遗传服务的首次接触开始,让家庭成员参与遗传咨询和决策可能具有价值。