Seven Memnun, Shah Lisa L, Yazici Hülya, Daack-Hirsch Sandra
Author Affiliations: College of Nursing, University of Massachusetts Amherst (Dr Seven), Massachusetts; Koç University School of Nursing (Dr Seven), Istanbul, Turkey; University of Pittsburgh School of Nursing (Dr Shah), Pennsylvania; Cancer Genetics Division, Department of Basic Oncology, Istanbul University Oncology Institute (Dr Yazici), Istanbul, Turkey; and University of Iowa College of Nursing (Dr Daack-Hirsch), Iowa City.
Cancer Nurs. 2022;45(1):E91-E98. doi: 10.1097/NCC.0000000000000876.
The genetic risk communication from proband to relatives varies from family to family, and patients often need support with the communication of genetic test results and making decisions to manage hereditary cancer risks.
The aim of this study was to characterize the communication of BRCA1 or BRCA2 (BRCA1/2) genetic risk from proband to first-degree relatives (FDRs) using a social network framework.
We characterized network and nonnetwork factors to explore their association with which FDRs were told about the genetic risk and whether or not relatives underwent genetic testing. Ninety-two female probands with hereditary breast and ovarian cancer who have confirmed BRCA1/2 mutations participated in the study. Communication of hereditary breast and ovarian cancer risk was assessed between 92 probands and their 417 FDRs.
Of 92 probands, 94.5% (n = 87) communicated their genetic test result to at least one of their FDRs. Of FDRs older than 18 years, 19.9% (n = 72) have genetic testing. Emotional closeness, educational level of the proband, and relative's age were significantly associated with communicating test results with FDRs.
Communication of genetic risk with the FDRs after having a BRCA1/2 gene-mutation-positive test result was high in this group of cancer patients. However, the rate of genetic testing among FDRs was low.
Probands' educational level and age of relatives for cascade genetic screening should be considered during counseling. Interventions to support women with BRCA1/2 mutations during the communication process and their family members' engagement in testing and risk-reducing strategies are needed.
从先证者到亲属的遗传风险沟通因家庭而异，患者在传达基因检测结果和做出管理遗传性癌症风险的决策时通常需要支持。
本研究的目的是使用社交网络框架来描述BRCA1或BRCA2（BRCA1/2）基因风险从先证者到一级亲属（FDR）的沟通情况。
我们对网络和非网络因素进行了特征描述，以探讨它们与哪些FDR被告知遗传风险以及亲属是否接受基因检测之间的关联。92名确诊为BRCA1/2突变的遗传性乳腺癌和卵巢癌女性先证者参与了该研究。评估了92名先证者与其417名FDR之间遗传性乳腺癌和卵巢癌风险的沟通情况。
在92名先证者中，94.5%（n = 87）将其基因检测结果告知了至少一名FDR。在18岁以上的FDR中，19.9%（n = 72）进行了基因检测。情感亲密度、先证者的教育水平和亲属的年龄与向FDR传达检测结果显著相关。
在这组癌症患者中，BRCA1/2基因突变检测结果呈阳性后与FDR进行遗传风险沟通的比例较高。然而，FDR中的基因检测率较低。
在咨询过程中应考虑先证者的教育水平和用于级联基因筛查的亲属年龄。需要采取干预措施，在沟通过程中支持携带BRCA1/2突变的女性及其家庭成员参与检测和降低风险策略。
