Sezione di Igiene, Dipartimento Universitario di Scienze della Vita e Sanità Pubblica, Università Cattolica del Sacro Cuore, Rome, Italy.
Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Eur J Hum Genet. 2021 Feb;29(2):250-261. doi: 10.1038/s41431-020-00723-7. Epub 2020 Sep 14.
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.
基因组检测的扩展伴随着对遗传咨询和家族内沟通的日益需求。遗传咨询可以在促进家族内沟通和关系方面发挥重要作用。我们进行了一项横断面、多中心研究，纳入了 252 名意大利女性，使用了一份分为两部分的问卷，第一部分在预测试咨询后填写，第二部分在收到 BRCA 检测结果后填写。我们评估了影响遗传性乳腺癌和卵巢癌遗传信息家族内披露的因素、与先证者更倾向于分享遗传信息的家庭成员，以及被咨询者在遗传咨询过程中对所接受信息的感知理解。女性更多地由丈夫/伴侣陪同进行咨询。在 BRCA 检测结果阳性的女性中，有 49%的人打算将其告知子女，27%的人打算告知丈夫/伴侣。年轻女性、与丈夫/伴侣同住的女性，以及那些描述家庭沟通是开放/深刻和自发/真诚的女性，在遗传咨询中更有可能得到陪伴，并与亲属讨论此事。自发/真诚或开放/深刻的家庭沟通以及愉快/幸福的家庭关系与作为对亲属的责任而进行基因检测的决定相关。女性对咨询内容有很好的理解（在 1-10 的量表中平均得分为 9.27）。遗传咨询提供者应考虑到遗传信息披露不仅取决于所提供信息的清晰度，还取决于预先存在的家族内沟通和关系、家庭结构和婚姻状况，这表明需要采取个性化的方法来考虑这些因素。
