Cappelli M, Surh L, Humphreys L, Verma S, Logan D, Hunter A, Allanson J
Children's Hospital of Eastern Ontario, Ottawa, Canada.
Clin Genet. 1999 Jun;55(6):419-30. doi: 10.1034/j.1399-0004.1999.550605.x.
This study examined the demand for breast cancer genetic testing and counseling among Canadian women diagnosed with breast cancer under the age of 50, together with some of the factors predicting both their intentions to be tested and the degree to which they act on their intentions. Participants were 110 women under the age of 50 and comprised of two groups: 1) women diagnosed with breast cancer (BC, n = 60): and 2) an index group of unaffected women from the general population (GP, n = 50). All participants completed a survey that addressed family history of breast and other cancers, demographic variables, knowledge and attitudes about breast cancer, and genetic testing. Members of the BC group were offered genetic counseling and testing for BRCA1 and BRCA2 free of charge. Overall, 60% of participants indicated they would like the test, and 40% either did not want it or were uncertain. Seventy-two percent of women in the BC group wanted to be tested. Of these, only 49% had actually contacted the genetic counselor about testing at follow-up 3-15 months later. Intention to be tested was associated with presence of breast cancer, greater perceived benefits of testing, fewer perceived 'costs' of testing, and higher levels of concern about the risk of relatives developing breast cancer. Actual arranging to meet with the genetic counselor among women in the BC group was associated with fewer perceived costs of having the test. Results suggest a moderate level of interest in gene testing, though intention to be tested may not translate into actual uptake. Women who do choose to have the test may believe the potential 'costs' of using this new genetic technology to be relatively few. This has implications for genetic counselors in terms of providing balanced and complete information to women considering genetic testing for breast cancer susceptibility.
本研究调查了加拿大50岁以下被诊断为乳腺癌的女性对乳腺癌基因检测及咨询的需求，以及一些预测她们检测意愿和将意愿付诸行动程度的因素。研究对象为110名50岁以下的女性，分为两组：1）被诊断为乳腺癌的女性（BC组，n = 60）；2）来自普通人群的未受影响女性索引组（GP组，n = 50）。所有参与者都完成了一项调查，内容涉及乳腺癌和其他癌症的家族史、人口统计学变量、对乳腺癌的知识和态度以及基因检测。BC组的成员可免费获得BRCA1和BRCA2基因咨询及检测服务。总体而言，60%的参与者表示愿意接受检测，40%的参与者要么不愿意要么不确定。BC组中72%的女性希望接受检测。其中，在3至15个月后的随访中，只有49%的女性实际联系了基因咨询师咨询检测事宜。检测意愿与患有乳腺癌、更高的检测感知益处、更低的检测感知“成本”以及对亲属患乳腺癌风险的更高关注度相关。BC组中实际安排与基因咨询师见面的女性与更低的检测感知成本相关。结果表明对基因检测有一定程度的兴趣，尽管检测意愿可能不会转化为实际行动。选择进行检测的女性可能认为使用这种新基因技术的潜在“成本”相对较少。这对于基因咨询师在为考虑进行乳腺癌易感性基因检测的女性提供平衡且完整的信息方面具有启示意义。
