Phillips K A, Warner E, Meschino W S, Hunter J, Abdolell M, Glendon G, Andrulis I L, Goodwin P J
Department of Medical Oncology and Haematology, Princess Margaret Hospital, Toronto, Ontario, Canada.
Clin Genet. 2000 May;57(5):376-83. doi: 10.1034/j.1399-0004.2000.570508.x.
The perceived benefits and risks of genetic testing may vary between groups of individuals with different cultural, demographic, and family history features. This multicentre study examined the factors that influenced the decision to undergo genetic testing for BRCA1 and BRCA2 in Canadian Jewish women with breast cancer. A self-administered questionnaire was developed and distributed to 134 individuals enrolled in a research-based testing program for Ashkenazi women. The questionnaire assessed demographic, social, and family history parameters, and the influence of medical, family, social, psychological, and cultural/religious factors on decision making about genetic testing. Seventy-six percent of women completed the questionnaire. Forty-one percent of study participants had no family history of breast or ovarian cancer. The most important factors influencing the decision to undergo testing were a desire to contribute to research, potential benefit to other family members, curiosity, and the potential for relief if not found to be a carrier (endorsed by 87, 78, 70, and 60% of participants, respectively). The main perceived risks of undergoing genetic testing related to insurance discrimination, confidentiality, accuracy and interpretability of results, potential impact on marriage prospects for family members, and focus on the Jewish community (endorsed by 28, 24, 30, 17, and 14% of participants, respectively). This study provides novel information on the motivating factors for BRCA1 and BRCA2 mutation testing in Canadian women of Ashkenazi Jewish descent. The focus on altruistic factors and those related to perceived psychological benefits of testing is notable.
基因检测的感知益处和风险在具有不同文化、人口统计学和家族史特征的个体群体之间可能存在差异。这项多中心研究调查了影响加拿大患乳腺癌的犹太女性进行BRCA1和BRCA2基因检测决策的因素。研究人员设计了一份自填式问卷，并分发给134名参与阿什肯纳兹女性基于研究的检测项目的个体。问卷评估了人口统计学、社会和家族史参数，以及医学、家庭、社会、心理和文化/宗教因素对基因检测决策的影响。76%的女性完成了问卷。41%的研究参与者没有乳腺癌或卵巢癌家族史。影响检测决策的最重要因素是希望为研究做出贡献、对其他家庭成员的潜在益处、好奇心以及如果未被发现是携带者可能带来的宽慰感（分别有87%、78%、70%和60%的参与者认可）。进行基因检测的主要感知风险与保险歧视、保密性、结果的准确性和可解释性、对家庭成员婚姻前景的潜在影响以及对犹太社区的关注有关（分别有28%、24%、30%、17%和14%的参与者认可）。这项研究提供了关于加拿大阿什肯纳兹犹太裔女性进行BRCA1和BRCA2突变检测的动机因素的新信息。对利他因素以及与检测的感知心理益处相关因素的关注值得注意。
