Jonsdottir Thordis, Valdimarsdottir Heiddis, Tryggvadottir Laufey, Lund Sigrun Helga, Thordardottir Marianna, Magnusson Magnus Karl, Valdimarsdottir Unnur
Center of Public Health sciences, Faculty of Medicine, University of Iceland.
Reykjavik University.
Laeknabladid. 2018;104(6):289-296. doi: 10.17992/lbl.2018.06.189.
Introduction The aim of this study was to explore the attitudes of Icelandic women towards existing genetic information, genetic counseling and genetic testing for BRCA mutations which dramatically increase risk for aggressive cancers. Materials and methods Women attending the cancer prevention clinic in Reykjavik, capital of Iceland, from October 12th until November 20th 2015 received an invitation to participate. Participation involved answering a short online questionnaire about background, family history of cancer as well as attitudes towards genetic counseling, BRCA testing and preventive use of such information. Descriptive statistics and chi-square tests were used to describe differences in attitudes towards those questions between subgroups of women. Results 1129 women (69% response rate) answered the questionnaire. Mean age was 47 years (span 21-76 years). Around half (47%) had heard fairly much about the mutations. Independent of family history of cancer, the majority of women were positive towards receiving genetic counseling (79%) and to undergo genetic testing (83%) for BRCA mutation with younger women being more interested than older women. On the other hand, only 4% of the women had already received genetic counseling and 7% undergone genetic testing. Women with family history of cancer were more knowledgeable about BRCA mutations (p<0.0001) and were less afraid of the consequence of being a mutation carrier (p<0.0001) compared to those with little or no family history. Regardless of family history, half (49%) worried that results from genetic testing could influence their health insurance. Almost all, or 97% of the women, were positive or very positive toward using existing genetic information obtained through scientific work, to inform affected indi-viduals of their mutation status. Conclusion Icelandic women are positive towards genetic counseling and testing for BRCA mutations although half of them worry that a positive result might affect their health insurance. Nevertheless, almost all women believe that existing genetic information should be used to inform carriers for preventive purposes.
引言 本研究的目的是探讨冰岛女性对现有基因信息、基因咨询以及针对BRCA突变的基因检测的态度，BRCA突变会显著增加患侵袭性癌症的风险。
材料与方法 2015年10月12日至11月20日期间，前往冰岛首都雷克雅未克癌症预防诊所就诊的女性收到了参与邀请。参与方式是回答一份简短的在线问卷，内容涉及背景、癌症家族史以及对基因咨询、BRCA检测和此类信息预防性使用的态度。描述性统计和卡方检验用于描述不同亚组女性对这些问题态度的差异。
结果 1129名女性（回复率69%）回答了问卷。平均年龄为47岁（范围21 - 76岁）。约一半（47%）的女性对这些突变了解较多。与癌症家族史无关，大多数女性对接受BRCA突变的基因咨询（79%）和进行基因检测（83%）持积极态度，年轻女性比年长女性更感兴趣。另一方面，只有4%的女性已经接受过基因咨询，7%的女性进行过基因检测。与家族史较少或无家族史的女性相比，有癌症家族史的女性对BRCA突变了解更多（p<0.0001），并且对成为突变携带者的后果担忧较少（p<0.0001）。无论家族史如何，一半（49%）的女性担心基因检测结果会影响她们的健康保险。几乎所有（97%）的女性对利用通过科学研究获得的现有基因信息告知受影响个体其突变状态持积极或非常积极的态度。
结论 冰岛女性对BRCA突变的基因咨询和检测持积极态度，尽管其中一半担心阳性结果可能影响她们的健康保险。然而，几乎所有女性都认为现有基因信息应用于告知携带者以达到预防目的。
