Division of Oncology and Pathology, Department of Clinical Sciences, Lund University, Lund, Sweden.
Department of Hematology, Oncology and Radiation Physics, Skåne University Hospital, Lund, Sweden.
Breast Cancer Res Treat. 2019 Jan;173(2):313-318. doi: 10.1007/s10549-018-5000-y. Epub 2018 Oct 11.
In the BRCAsearch study, unselected breast cancer patients were prospectively offered germline BRCA1/2 mutation testing through a simplified testing procedure. The purpose of the present study was to evaluate satisfaction with the BRCAsearch testing procedure and, furthermore, to report on uptake rates of prophylactic surgeries among mutation carriers.
Pre-test information was provided by a standardized invitation letter instead of in-person genetic counseling. The patients were offered contact with a genetic counselor for telephone genetic counseling if they felt a need for that. Mutation carriers were telephoned and given a time for a face-to-face post-test genetic counseling appointment. Non-carriers were informed about the test result through a letter. One year after the test results were delivered, a study-specific questionnaire was mailed to the study participants who had consented to testing. The response rate was 83.1% (448 of 539).
A great majority (96.0%) of the responders were content with the method used for providing information within the study, and 98.7% were content with having pursued genetic testing. 11.1% answered that they would have liked to receive more oral information. In an adjusted logistic regression model, patients with somatic comorbidity (OR 2.56; P = 0.02) and patients born outside of Sweden (OR 3.54; P = 0.01) were more likely, and patients with occupations requiring at least 3 years of university or college education (OR 0.37; P = 0.06) were less likely to wanting to receive more oral information. All 11 mutation carriers attended post-test genetic counseling. At a median follow-up of 2 years, the uptake of prophylactic salpingo-oophorectomy was 100%, and the uptake of prophylactic mastectomy was 55%.
Satisfaction with a simplified BRCA1/2 testing procedure was very high. Written pre-test information has now replaced in-person pre-test counseling for breast cancer patients in our health care region.
在 BRCAsearch 研究中，通过简化的检测程序，前瞻性地向未经选择的乳腺癌患者提供种系 BRCA1/2 突变检测。本研究的目的是评估对 BRCAsearch 检测程序的满意度，并报告突变携带者预防性手术的接受率。
采用标准化的邀请信提供检测前信息，而不是面对面的遗传咨询。如果患者感到有需要，他们可以选择与遗传咨询师进行电话遗传咨询。如果检测结果为突变携带者，将通过电话通知，并安排面对面的检测后遗传咨询预约时间。非携带者将通过一封信告知检测结果。在检测结果发布一年后，向同意检测的研究参与者邮寄了一份专门的调查问卷。回复率为 83.1%（539 人中有 448 人）。
绝大多数（96.0%）的应答者对研究中提供信息的方法感到满意，98.7%的人对接受基因检测感到满意。11.1%的人回答说他们希望获得更多的口头信息。在调整后的逻辑回归模型中，患有躯体合并症的患者（OR 2.56；P=0.02）和出生在瑞典以外的患者（OR 3.54；P=0.01）更有可能希望获得更多的口头信息，而从事至少需要 3 年大学或学院教育的职业的患者（OR 0.37；P=0.06）则不太可能希望获得更多的口头信息。所有 11 名突变携带者均接受了检测后遗传咨询。中位随访 2 年后，预防性输卵管卵巢切除术的接受率为 100%，预防性乳房切除术的接受率为 55%。
对简化的 BRCA1/2 检测程序的满意度非常高。书面的检测前信息现已取代了我们医疗保健区域乳腺癌患者的面对面检测前咨询。
