Lapointe Julie, Côté Claudia, Bouchard Karine, Godard Béatrice, Simard Jacques, Dorval Michel
Faculté de pharmacie, Université Laval, Québec, Canada.
J Genet Couns. 2013 Apr;22(2):249-57. doi: 10.1007/s10897-012-9531-9. Epub 2012 Aug 15.
We assessed whether certain life events contributed to the communication about cancer risk within families who have undergone BRCA1/2 testing. We also explored what type of resources participants would have valued to help in supporting family communication about genetic information. Two hundred and forty-six individuals (218 women, 28 men) who received a BRCA1/2 genetic test result 3 to 10 years earlier (mean of 6.4 years) participated in a telephone interview. Participants were asked about the occurrence of a number of life events (cancer diagnosis, death, uptake of prophylactic surgery, and providing care to a family member with cancer) in their family since their BRCA1/2 test result disclosure and, for each occurrence, whether it fostered family communication about cancer risk. A total of 182 participants (74 %) reported that they or one of their relatives received a cancer diagnosis, 176 (72 %) reported that someone died in their family, and 73 (30 %) stated that they or one of their relatives undertook a prophylactic surgery. During this period, 109 participants (44 %) also provided care for a family member who had cancer. Among participants who reported these life events, family communication was fostered by these events in proportions varying from 50 % (death) to 69 % (cancer diagnosis). Our results indicate that life events may contribute to family communication about cancer risk. Further research is needed to determine whether these events provide a "window of opportunity" to reach family members, address their needs and concerns about cancer, update family cancer history, and introduce genetic counseling and risk assessment.
我们评估了某些生活事件是否有助于接受BRCA1/2检测的家庭内部关于癌症风险的沟通。我们还探讨了参与者认为哪些类型的资源有助于支持家庭关于基因信息的沟通。246名个体（218名女性，28名男性）参与了电话访谈，他们在3至10年前（平均6.4年）收到了BRCA1/2基因检测结果。参与者被问及自BRCA1/2检测结果披露以来，其家庭中发生的一系列生活事件（癌症诊断、死亡、预防性手术的接受情况以及为患癌家庭成员提供护理），并针对每一个事件询问其是否促进了家庭关于癌症风险的沟通。共有182名参与者（74%）报告称他们自己或其亲属被诊断患有癌症，176名（72%）报告称其家庭中有成员死亡，73名（30%）表示他们自己或其亲属接受了预防性手术。在此期间，109名参与者（44%）还为患癌家庭成员提供了护理。在报告了这些生活事件的参与者中，这些事件促进家庭沟通的比例从50%（死亡）到69%（癌症诊断）不等。我们的结果表明，生活事件可能有助于家庭关于癌症风险的沟通。需要进一步研究以确定这些事件是否提供了一个“机会之窗”，从而接触家庭成员、解决他们对癌症的需求和担忧、更新家庭癌症病史，并引入遗传咨询和风险评估。
