Patenaude Andrea Farkas, Dorval Michel, DiGianni Lisa S, Schneider Katherine A, Chittenden Anu, Garber Judy E
Dana-Farber Cancer Institute, Boston, MA 02115, USA.
J Clin Oncol. 2006 Feb 1;24(4):700-6. doi: 10.1200/JCO.2005.01.7541.
Patient communication with relatives about cancer genetic test results is the primary means for alerting those who may benefit from identification of hereditary risk. This study identifies factors predicting patterns of disclosure of BRCA1/2 test results to first-degree relatives (FDRs) among women tested in a clinical protocol.
A total of 273 women completed a family communication measure 4 months after BRCA1/2 result disclosure. chi2 analyses and logistic regression models identified factors predicting sharing of the test result.
Most FDRs were informed of the participant's test result by 4 months; female relatives were more likely to be informed than males. Tested women conveyed inconclusive results (variant or negative without known familial mutation) less frequently to their sisters than conclusive (positive/true negative) results (P = .03). Twenty-three percent of participants did not inform their father. Informing brothers was more likely when BRCA1/2 was inherited through paternal lineage (P = .04), but 29% of brothers were not informed. Women older than age 40 were less likely to share their result with their parents (P = .03) than were women < or = 40. Children's ages influenced communication to offspring; most children were told.
Demographic, health-, and test-related factors predicted genetic test result communication to FDRs. Additional research investigating the full spectrum of discussion within families and motives for incomplete sharing of genetic test results with relatives may suggest strategies for providers and targeted educational interventions for patients to enhance family communication.
患者与亲属交流癌症基因检测结果是提醒那些可能从遗传性风险识别中获益者的主要方式。本研究确定了在一项临床方案中接受检测的女性向一级亲属(FDRs)披露BRCA1/2检测结果模式的预测因素。
共有273名女性在BRCA1/2结果披露4个月后完成了一项家庭交流测评。卡方分析和逻辑回归模型确定了预测检测结果分享情况的因素。
大多数FDRs在4个月时就知晓了参与者的检测结果;女性亲属比男性亲属更有可能被告知。接受检测的女性向其姐妹传达不确定结果(变异或无已知家族突变的阴性结果)的频率低于确定性结果(阳性/真阴性)(P = 0.03)。23%的参与者未告知其父亲。当BRCA1/2通过父系遗传时,告知兄弟的可能性更大(P = 0.04),但仍有29%的兄弟未被告知。40岁以上的女性比40岁及以下的女性与父母分享结果的可能性更小(P = 0.03)。孩子的年龄影响了与子女的交流;大多数孩子都被告知了。
人口统计学、健康和检测相关因素可预测向FDRs传达基因检测结果的情况。进一步研究家庭内部讨论的全貌以及与亲属不完全分享基因检测结果的动机,可能会为医疗服务提供者提供策略,并为患者提供有针对性的教育干预措施,以加强家庭交流。