Factors Associated with Interest in Gene-Panel Testing and Risk Communication Preferences in Women from BRCA1/2 Negative Families
Factors Associated with Interest in Gene-Panel Testing and Risk Communication Preferences in Women from BRCA1/2 Negative Families
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DOI：
10.1007/s10897-016-0001-7
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发表时间：
2017-06-01
影响因子：
1.9
通讯作者：
Kinney, Anita Y.
中科院分区：
文献类型：
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作者：
Flores, Kristina G.;Steffen, Laurie E.;Kinney, Anita Y.
科学进步使得多重基因检测板的开发成为可能，可以同时评估BRCA 1/2检测阴性的女性的许多基因。我们研究了BRCA阴性家庭妇女中赋予中度和中度乳腺癌风险和风险沟通偏好的基因检测的相关性。BRCA 1/2突变检测阴性的乳腺癌患者的女性一级亲属（N = 149）完成了一项评估多重基因检测兴趣和风险沟通偏好的调查。对测试的兴趣很高（70%），如果结果可以指导降低风险的行为改变，如服用药物（79%），则会更高。参与者更喜欢从各种来源接收基因组风险信息，包括：初级保健医生（83%），遗传咨询师（78%），印刷材料（71%）和网络（60%）。与测试兴趣独立相关的因素是：发生癌症的终身风险（比值比（OR）= 1.67：95%置信区间（CI）1.06-2.65）和高度癌症担忧（OR = 3.12：CI 1.28-7.60）。研究结果表明，来自BRCA 1/2阴性家庭的女性是一个独特的群体，可能会引发行为改变。研究结果还为临床医生提供了指导，他们可以帮助开发基因组风险沟通，促进知情决策和定制行为干预措施。
Scientific advances have allowed the development of multiplex gene-panels to assess many genes simultaneously in women who have tested negative for BRCA1/2. We examined correlates of interest in testing for genes that confer modest and moderate breast cancer risk and risk communication preferences for women from BRCA negative families. Female first-degree relatives of breast cancer patients who tested negative for BRCA1/2 mutations (N = 149) completed a survey assessing multiplex genetic testing interest and risk communication preferences. Interest in testing was high (70 %) and even higher if results could guide risk-reducing behavior changes such as taking medications (79 %). Participants preferred to receive genomic risk communications from a variety of sources including: primary care physicians (83 %), genetic counselors (78 %), printed materials (71 %) and the web (60 %). Factors that were independently associated with testing interest were: perceived lifetime risk of developing cancer (odds ratio (OR) = 1.67: 95 % confidence interval (CI) 1.06-2.65) and high cancer worry (OR = 3.12: CI 1.28-7.60). Findings suggest that women from BRCA1/2 negative families are a unique population and may be primed for behavior change. Findings also provide guidance for clinicians who can help develop genomic risk communications, promote informed decision making and customize behavioral interventions.