Howe Rebecca, Miron-Shatz Talya, Hanoch Yaniv, Omer Zehra B, O'Donoghue Cristina, Ozanne Elissa M
Frank H. Netter MD School of Medicine, Quinnipiac University, North Haven, CT, USA.
Center for Medical Decision Making, Ono Academic College, Kiryat Ono, Israel.
J Genet Couns. 2015 Oct;24(5):744-51. doi: 10.1007/s10897-014-9803-7. Epub 2014 Dec 18.
Single nucleotide polymorphisms (SNPs) have the potential to improve personalized medicine in breast cancer care. As new SNPs are discovered, further enhancing risk classification, SNP testing may serve to complement family history and phenotypic risk factors when assessed in a clinical setting. SNP analysis is particularly relevant to high-risk women who may seek out such information to guide their decision-making around risk-reduction. However, little is known about how high-risk women may respond to SNP testing with regard to clinical decision-making. We examined high-risk women's interest in SNP testing for breast cancer risk through an online survey of hypothetical testing scenarios. Women stated their preferences for sharing test results and selected the most likely follow-up action they would pursue in each of the test result scenarios (above average and below average risk for breast cancer). Four hundred seventy-eight women participated. Most women (89 %) did not know what a SNP was prior to the study. Once SNP testing was described, 75 % were interested in SNP testing. Participants stated an interest in lifestyle interventions for risk-reduction and wanted to discuss their testing results with their doctor or a genetic counselor. Women are interested in SNP testing and are prepared to make lifestyle changes based on testing results. Women's preference for discussing testing results with a healthcare provider aligns with the current trend towards SNP testing in a clinical setting.
单核苷酸多态性(SNPs)有潜力改善乳腺癌护理中的个性化医疗。随着新的单核苷酸多态性被发现,风险分类进一步完善,在临床环境中进行评估时,单核苷酸多态性检测可作为家族病史和表型风险因素的补充。单核苷酸多态性分析对于那些可能寻求此类信息以指导其降低风险决策的高危女性尤为重要。然而,关于高危女性在临床决策方面对单核苷酸多态性检测可能会有何种反应,我们却知之甚少。我们通过对假设检测场景的在线调查,研究了高危女性对乳腺癌风险单核苷酸多态性检测的兴趣。女性表明了她们对分享检测结果的偏好,并在每个检测结果场景(乳腺癌风险高于平均水平和低于平均水平)中选择了她们最可能采取的后续行动。478名女性参与了调查。大多数女性(89%)在研究之前不知道什么是单核苷酸多态性。在描述了单核苷酸多态性检测后,75%的人对其感兴趣。参与者表示有兴趣通过生活方式干预来降低风险,并希望与医生或遗传咨询师讨论检测结果。女性对单核苷酸多态性检测感兴趣,并准备根据检测结果改变生活方式。女性倾向于与医疗服务提供者讨论检测结果,这与当前临床环境中单核苷酸多态性检测的趋势一致。