Daly Mary B, Montgomery Susan, Bingler Ruth, Ruth Karen
Department of Clinical Genetics, Timothy R. Talbot Jr. Chair for Cancer Research, Fox Chase Cancer Center, 333 Cottman Avenue, Philadelphia, PA, 19111, USA.
Risk Assessment Program, Department of Clinical Genetics, Fox Chase Cancer Center, 333 Cottman Avenue, Philadelphia, PA, 19111, USA.
Fam Cancer. 2016 Oct;15(4):697-706. doi: 10.1007/s10689-016-9889-1.
Genetic testing for cancer susceptibility genes is increasingly being integrated into medical care. Test results help inform risks of the individual being tested as well as family members who could benefit from knowing the results. The responsibility for informing relatives of genetic test results falls on the proband, the first family member being tested. However, there are several challenges associated with sharing genetic test results within families including incomplete understanding of test results, emotional distance among family members, and poor communication skills. In this paper we describe the communication process between probands randomized to receive BRCA1/2 genetic test results in an enhanced versus a standard of care counseling session, and their first degree relatives with whom they shared results. We contacted 561 first degree relatives of probands who had undergone BRCA1/2 genetic testing to measure their level of understanding of the test results, their difficulty and distress upon hearing the results, the impact of the test results on their risk perception, and their intention to pursue genetic counseling/testing. 82.1 % of relatives correctly reported the test results of their proband. Distress upon hearing the test result was highest for those relatives whose proband received informative test results. Relatives reported a decrease in cancer risk perception after hearing the test results, regardless of the type of result. Intention to pursue counseling/testing was low, even among those relatives whose proband received informative test results. Male relatives were less likely to be informed of test results and more likely to forget hearing them. These results suggest ways to improve the communication process within families.
癌症易感性基因的基因检测正越来越多地融入医疗保健之中。检测结果有助于告知受检个体以及可能从知晓结果中受益的家庭成员相关风险。将基因检测结果告知亲属的责任落在先证者（首个接受检测的家庭成员）身上。然而，在家庭内部分享基因检测结果存在诸多挑战，包括对检测结果理解不完整、家庭成员之间情感疏远以及沟通技巧欠佳。在本文中，我们描述了被随机分配在强化咨询与标准护理咨询环节中接受BRCA1/2基因检测结果的先证者，与他们分享检测结果的一级亲属之间的沟通情况。我们联系了561名接受过BRCA1/2基因检测的先证者的一级亲属，以衡量他们对检测结果的理解程度、听到结果时的困难和痛苦、检测结果对他们风险认知的影响以及他们寻求基因咨询/检测的意愿。82.1%的亲属正确报告了他们先证者的检测结果。对于那些先证者收到信息性检测结果的亲属来说，听到检测结果时的痛苦程度最高。无论检测结果类型如何，亲属们报告称听到检测结果后癌症风险认知有所下降。寻求咨询/检测的意愿较低，即使在那些先证者收到信息性检测结果的亲属中也是如此。男性亲属不太可能被告知检测结果，且更容易忘记听到过检测结果。这些结果提示了改善家庭内部沟通流程的方法。
