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Genomic profiles for disease risk: predictive or premature?疾病风险的基因组图谱:是预测性的还是为时过早?
JAMA. 2008 Mar 19;299(11):1353-5. doi: 10.1001/jama.299.11.1353.
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Letting the genome out of the bottle--will we get our wish?让基因组从瓶中释放——我们会如愿以偿吗?
N Engl J Med. 2008 Jan 10;358(2):105-7. doi: 10.1056/NEJMp0708162.
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Susceptibility genes and the question of embodied identity.易感基因与具身身份问题。
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Predictors of cancer worry in unaffected women from high risk breast cancer families: risk perception is not the primary issue.高危乳腺癌家族中未患癌女性的癌症担忧预测因素:风险认知并非主要问题。
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Genome-wide association. Closing the net on common disease genes.全基因组关联研究。锁定常见疾病基因。
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6
Healthy women with a family history of breast cancer: impact of a tailored genetic counseling intervention on risk perception, knowledge, and menopausal therapy decision making.有乳腺癌家族史的健康女性:定制的遗传咨询干预对风险认知、知识及绝经治疗决策的影响
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Genetic susceptibility testing for Alzheimer disease: motivation to obtain information and control as precursors to coping with increased risk.阿尔茨海默病的基因易感性检测:获取信息和掌控感的动机作为应对风险增加的先兆。
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那些寻求阿尔茨海默病遗传风险评估者对家族风险的认知。

Perceptions of familial risk in those seeking a genetic risk assessment for Alzheimer's disease.

作者信息

Hiraki Susan, Chen Clara A, Roberts J Scott, Cupples L Adrienne, Green Robert C

机构信息

Dept of Neurology, Boston University School of Medicine, Boston, MA, USA.

出版信息

J Genet Couns. 2009 Apr;18(2):130-6. doi: 10.1007/s10897-008-9194-8. Epub 2008 Oct 23.

DOI:10.1007/s10897-008-9194-8
PMID:18949541
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2919070/
Abstract

Perceived risk is a complex concept that influences the genetic counseling process and can affect client coping and behavior. Although the association between family history and risk perception is well recognized in the literature, no studies have explored this relationship specifically in those seeking genetic susceptibility testing for a common chronic condition. REVEAL is a randomized trial assessing the impact of APOE disclosure and genetic risk assessment for Alzheimer's disease (AD). Using baseline REVEAL data, we hypothesized that there would be a significant association between the degree of AD family history and risk perception of AD, and that this relationship would be stronger in those who believed that genetics is a very important AD risk factor. In our sample of 293 participants, we found that a higher self-perceived risk of AD was associated with strength of family history of AD (p < 0.001), belief in genetics as an important AD risk factor (p < 0.001), being female (p < 0.001) and being Caucasian (p = 0.02). These results are the first to demonstrate the association between family history and risk perception in persons volunteering for genetic susceptibility testing for a common complex disease.

摘要

感知风险是一个复杂的概念,它会影响遗传咨询过程,并可能影响客户的应对方式和行为。尽管家族史与风险感知之间的关联在文献中已得到充分认可,但尚无研究专门探讨那些因常见慢性病寻求遗传易感性检测的人群中的这种关系。REVEAL是一项随机试验,评估载脂蛋白E(APOE)信息披露和阿尔茨海默病(AD)遗传风险评估的影响。利用REVEAL的基线数据,我们假设AD家族史的程度与AD的风险感知之间存在显著关联,并且这种关系在那些认为遗传学是AD非常重要的风险因素的人群中会更强。在我们293名参与者的样本中,我们发现较高的自我感知AD风险与AD家族史的强度相关(p < 0.001)、认为遗传学是重要AD风险因素(p < 0.001)、女性(p < 0.001)和白种人(p = 0.02)。这些结果首次证明了在为常见复杂疾病进行遗传易感性检测的志愿者中家族史与风险感知之间的关联。