Katapodi Maria C, Northouse Laurel, Pierce Penny, Milliron Kara J, Liu Guipeng, Merajver Sofia D
School of Nursing, University of Michigan, Ann Arbor, USA.
Oncol Nurs Forum. 2011 Sep;38(5):572-81. doi: 10.1188/11.ONF.572-581.
PURPOSE/OBJECTIVES: To (a) examine differences in appraisals of hereditary breast and ovarian cancer (HBOC), psychological distress, family environment, and decisional conflict between women who pursued genetic testing and their at-risk relatives who did not, and (b) examine correlations among appraisals of HBOC, psychological distress, family environment, and decisional conflict regarding genetic testing in these two cohorts of women.
Descriptive, cross-sectional cohort study.
Two clinics affiliated with a major research university in the midwestern United States.
372 women aged 18 years and older. 200 pursued genetic testing for BRCA1 and BRCA2 mutations (probands) and 172 of their female relatives who had a greater than 10% prior probability of being a mutation carrier but had not pursued testing.
After providing informed consent, probands and relatives were mailed self-administered questionnaires.
Perceived risk, knowledge of HBOC risk factors and modes of gene inheritance, perceived severity, perceived controllability, psychological distress, family relationships, family communication, and decisional conflict about genetic testing.
T tests revealed that probands perceived higher risk and had more psychological distress associated with breast cancer. Probands had more knowledge regarding risk factors and gene inheritance, and greater decisional conflict regarding genetic testing. Relatives reported higher perceived severity and controllability. No differences were observed in family relationships and family communication between probands and relatives. Pearson correlations revealed different patterns in knowledge, perceived controllability, family relationships, and decisional conflict between probands and relatives.
Significant differences exist between women who pursue genetic testing and those who do not. The family environment influences adjustment to HBOC and decisions about genetic testing.
Enhancing the family communication process about HBOC can provide informational and emotional support to high-risk women and promote decision making about genetic testing.
目的/目标：(a) 比较进行基因检测的女性与未进行检测的高危亲属在遗传性乳腺癌和卵巢癌（HBOC）评估、心理困扰、家庭环境以及决策冲突方面的差异；(b) 研究这两组女性在HBOC评估、心理困扰、家庭环境以及基因检测决策冲突之间的相关性。
描述性横断面队列研究。
美国中西部一所主要研究型大学附属的两家诊所。
372名18岁及以上女性。其中200名进行了BRCA1和BRCA2突变基因检测（先证者），其172名女性亲属携带突变的先验概率大于10%但未进行检测。
在获得知情同意后，先证者和亲属通过邮寄方式收到自行填写的问卷。
感知风险、HBOC风险因素及基因遗传方式的知识、感知严重性、感知可控性、心理困扰、家庭关系、家庭沟通以及基因检测的决策冲突。
t检验显示，先证者感知到更高的风险，且与乳腺癌相关的心理困扰更多。先证者对风险因素和基因遗传有更多了解，在基因检测方面的决策冲突更大。亲属报告的感知严重性和可控性更高。先证者和亲属在家庭关系和家庭沟通方面未观察到差异。Pearson相关性分析显示，先证者和亲属在知识、感知可控性、家庭关系及决策冲突方面存在不同模式。
进行基因检测的女性与未进行检测的女性之间存在显著差异。家庭环境会影响对HBOC的适应以及基因检测决策。
加强关于HBOC的家庭沟通可以为高危女性提供信息和情感支持，并促进基因检测决策。
