Uptake of BRCA1 genetic testing in adult sisters and daughters of known mutation carriers in Norway.
Uptake of BRCA1 genetic testing in adult sisters and daughters of known mutation carriers in Norway.
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DOI：
10.1023/a:1025864703405
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发表时间：
2003-10-01
影响因子：
1.9
通讯作者：
Moller, Pal
中科院分区：
文献类型：
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作者：
Bodd, Trine Levin;Reichelt, Jon;Moller, Pal
本研究旨在检查BRCA1突变携带者一级亲属的信息传递和基因检测的摄入情况。其目的是，如果不向处于危险中的家庭成员传播关于救生保健的信息，则考虑修订与隐私有关的现行立法。挪威镭医院为遗传性乳腺癌和卵巢癌高危家庭提供临床遗传学服务。我们与全国各大医院一起提供医疗监测。几乎所有费用都由国家健康保险支付。由于BRCA1中有大量创始人突变的家庭，我们在收集有关这些群体的信息方面处于独特的地位。在一个连续的系列中，我们确定了75个BRCA1突变携带者，并在索引突变携带者被告知其突变状态后6个月或更长时间登记了基因检测的信息传输和吸收。这75名BRCA1突变携带者有172名在世的一级亲属，年龄在18岁或以上（84名女性，88名男性）。在54名30岁以上的女性中，有44人（81.5%）选择了基因检测。所有亲属的检测率为43%。在任何年龄段，63%的女性接受了基因检测，而男性只有24%（p
This study was undertaken to examine transmission of information to first-degree relatives of BRCA1 mutation carriers and uptake of genetic testing. The intention was to consider revision of current legislation related to privacy if information on life-saving health care was not disseminated to at-risk family members. The Norwegian Radium Hospital provides clinical genetics services for families at high risk for hereditary breast and ovarian cancer. Together with major hospitals nationwide we provide medical surveillance. Nearly all expenses are covered by the National Health insurance. Because of the high number of families with founder mutations in BRCA1, we are in a unique position to gather information about these groups. Within a consecutive series, we identified 75 BRCA1 mutation carriers and registered information transmission and uptake of genetic testing 6 months or more after the index mutation carriers had been informed about their mutation status. These 75 BRCA1 mutation carriers had 172 living first-degree relatives, aged 18 years or older (84 females, 88 males). Forty-four out of 54 (81.5%) of females over 30 had opted for genetic testing. The testing rate among all relatives was 43%. At any age, 63 % of the females underwent genetic testing compared with 24% of the males (p