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Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach.
European Journal of Human Genetics ( IF 5.2 ) Pub Date : 2020-09-14 , DOI: 10.1038/s41431-020-00723-7
Maria Luisa Di Pietro 1 , Drieda Zaçe 1 , Alessia Orfino 2 , Francesca Romana Di Raimo 3 , Andrea Poscia 4 , Elisabetta de Matteis 5 , Daniela Turchetti 6, 7 , Lea Godino 6, 7 , Benedetta Bertonazzi 6, 7 , Marzena Franiuk 8 , Carla Bruzzone 8 , Liliana Varesco 8 , Emanuela Lucci-Cordisco 3, 9 , Maurizio Genuardi 3, 9
Affiliation  

Genomic testing expansion is accompanied by an increasing need for genetic counselling and intrafamilial communication. Genetic counselling can play an important role in facilitating intrafamilial communication and relationships. We conducted a cross-sectional, multicenter study including 252 Italian women, using a questionnaire divided in two sections, the first one to be filled after the pre-test counselling and the second after receiving BRCA test results. We assessed the factors influencing intrafamilial disclosure of genetic information for hereditary breast and ovarian cancer, family members with whom probands are more prone to share genetic information, and the perceived understanding of information received by counselees during genetic counselling. Women were accompanied to the counselling more often by their husband/partner. Among those with a positive BRCA test result, 49% intended to communicate it to their offspring and 27% to their husband/partner. Younger women, those living with their husband/partner, and those who described family communication as open/profound and spontaneous/sincere had a higher probability of being accompanied during genetic counselling and discuss about it with relatives. Spontaneous/sincere or open/profound family communication and joyful/happy familial relationships were associated with the decision to undergo genetic testing as a responsibility towards relatives. Women had a good understanding of counselling contents (mean score 9.27 in a scale 1–10). Genetic counselling providers should consider that genetic information disclosure does not depend only on the clarity of the information provided, but also on pre-existing intrafamilial communication and relationships, family structure and marital status, indicating the need for a personalised approach accounting for these factors.



中文翻译:

意大利女性遗传性乳腺癌和卵巢癌遗传信息的家庭内交流:迈向个性化方法。

基因组测试的扩展伴随着对遗传咨询和家庭内部交流的日益增长的需求。遗传咨询可以在促进家庭内部沟通和关系方面发挥重要作用。我们进行了一项包括 252 名意大利女性的横断面、多中心研究,问卷调查分为两部分,第一部分在测试前咨询后填写,第二部分在收到 BRCA 测试结果后填写。我们评估了影响遗传性乳腺癌和卵巢癌遗传信息的家庭内披露的因素、先证者更倾向于与其共享遗传信息的家庭成员,以及在遗传咨询期间被咨询者对所收到信息的感知理解。妇女更多地由她们的丈夫/伴侣陪同参加咨询。在 BRCA 检测结果呈阳性的人中,49% 的人打算将其传达给他们的后代,27% 的人打算将其传达给他们的丈夫/伴侣。年轻女性、与丈夫/伴侣同住的女性,以及将家庭沟通描述为开放/深刻和自发/真诚的女性,在遗传咨询期间陪伴并与亲属讨论的可能性更高。自发/真诚或开放/深刻的家庭沟通和快乐/幸福的家庭关系与接受基因检测的决定有关,这是对亲属的责任。女性对咨询内容有很好的理解(1-10 分的平均分 9.27)。遗传咨询提供者应考虑遗传信息披露不仅仅取决于所提供信息的清晰度,

更新日期:2020-09-14
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