Young Mary-Anne, Forrest Laura Elenor, Rasmussen Victoria-Mae, James Paul, Mitchell Gillian, Sawyer Sarah Dilys, Reeve Katrina, Hallowell Nina
The Kinghorn Cancer Centre, Garvan Institute of Medical Research, Sydney, Australia.
Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre, Parkville, Australia.
J Genet Couns. 2018 Jun;27(3):702-708. doi: 10.1007/s10897-017-0162-z. Epub 2017 Nov 22.
Genome wide association studies have identified a number of common genetic variants - single nucleotide polymorphisms (SNPs) - that combine to increase breast cancer risk. SNP profiling may enhance the accuracy of risk assessment and provides a personalized risk estimate. SNP testing for breast cancer risks may supplement other genetic tests in the future, however, before it can be implemented in the clinic we need to know how it will be perceived and received. Semi-structured qualitative interviews were conducted with 39 women who had previously had a breast cancer diagnosis and undergone BRCA1/2 testing, participated in the Variants in Practice (ViP) study and received personalized risk (SNP) profiles. Interviews explored their understanding and experiences of receiving this SNP information. Women reported feeling positive about receiving their personalized risk profile, because it: provided an explanation for their previous diagnosis of cancer, vindicated previous risk management decisions and clarified their own and other family members' risks. A small group was initially shocked to learn of the increased risk of a second primary breast cancer. This study suggests that the provision of personalized risk information about breast cancer generated by SNP profiling is understood and well received. However, a model of genetic counseling that incorporates monogenic and polygenic genetic information will need to be developed prior to clinical implementation.
全基因组关联研究已经确定了一些常见的基因变异——单核苷酸多态性（SNP）——这些变异共同作用会增加患乳腺癌的风险。SNP分析可能会提高风险评估的准确性，并提供个性化的风险估计。未来，用于评估乳腺癌风险的SNP检测可能会补充其他基因检测，然而，在其能够应用于临床之前，我们需要了解它将如何被看待和接受。我们对39名曾被诊断患有乳腺癌并接受过BRCA1/2检测、参与了“实践中的变异”（ViP）研究并收到个性化风险（SNP）分析报告的女性进行了半结构化定性访谈。访谈探讨了她们对收到这种SNP信息的理解和体验。女性报告称，她们对收到个性化风险分析报告感觉良好，因为它：为她们之前的癌症诊断提供了解释，证明了之前风险管理决策的合理性，并明确了她们自己以及其他家庭成员的风险。一小部分人最初得知患第二原发性乳腺癌的风险增加时感到震惊。这项研究表明，由SNP分析生成的关于乳腺癌的个性化风险信息能够被理解且受到好评。然而，在临床应用之前，需要开发一种整合单基因和多基因遗传信息的遗传咨询模式。
