Klemp Jennifer R, O'Dea Anne, Chamberlain Carolyn, Fabian Carol J
University of Kansas Breast Cancer Prevention Center, Division of Clinical Oncology, Department of Internal Medicine, University of Kansas Medical Center, 3901 Rainbow Blvd., Kansas City, Kansas 66160-7418, USA.
Fam Cancer. 2005;4(4):279-84. doi: 10.1007/s10689-005-1474-y.
With the increasing availability of cancer risk counseling and genetic testing, we need to determine the most effective way to provide complex and sensitive information to patients. This study was designed to determine the satisfaction of results delivery in women who participated in a breast cancer prevention trial and chose to undergo free and confidential BRCA1/2 genetic testing. Self-selected women at high-risk for breast cancer who were eligible to participate in a phase II chemoprevention trial, were offered free and confidential pre-test counseling and BRCA1/2 full sequencing. Subjects were not randomized but rather had the option of in person or telephone results disclosure. Those subjects with an identified germline alteration were required to follow-up with an in person consultation; this was optional for those with a negative result. A satisfaction survey was mailed to subjects after receiving their results. Ninety-seven percent (116/119) of the eligible subjects underwent genetic testing. Ninety-one percent (105/116) of those women tested responded to the follow-up survey. Twenty-four of the 26 women with an identified germline alteration responded. Nearly all of the responders were satisfied with the counseling and testing process. All of the respondents felt they made a wise decision in having the testing and would recommend that other women in a similar situation undergo genetic testing. We found that the majority of women at high risk for breast cancer participating in a prevention trial will choose to undergo anonymous and free BRCA1/2 genetic testing, be informed of the results, and are accepting of receiving results initially by phone.
随着癌症风险咨询和基因检测的可及性不断提高，我们需要确定向患者提供复杂且敏感信息的最有效方式。本研究旨在确定参与乳腺癌预防试验并选择接受免费且保密的BRCA1/2基因检测的女性对结果告知方式的满意度。符合条件参与II期化学预防试验的自我选择的高危乳腺癌女性，可获得免费且保密的检测前咨询和BRCA1/2全序列检测。受试者并非随机分组，而是可以选择亲自或通过电话获知检测结果。那些检测出种系突变的受试者需要进行一次面对面咨询；检测结果为阴性的受试者则可选择是否进行面对面咨询。在受试者收到检测结果后，向他们邮寄了一份满意度调查问卷。97%（116/119）的符合条件的受试者接受了基因检测。接受检测的女性中有91%（105/116）回复了随访调查。26名检测出种系突变的女性中有24人回复了调查。几乎所有回复者都对咨询和检测过程感到满意。所有受访者都觉得自己做了进行检测的明智决定，并会建议其他处于类似情况的女性进行基因检测。我们发现，参与预防试验的大多数高危乳腺癌女性会选择接受匿名且免费的BRCA1/2基因检测，获知检测结果，并且接受最初通过电话接收结果的方式。
