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针对非裔美国女性进行BRCA1和BRCA2基因突变的遗传咨询与检测的效果:一项随机试验。

Effect of genetic counseling and testing for BRCA1 and BRCA2 mutations in African American women: a randomized trial.

作者信息

Halbert C H, Kessler L, Troxel A B, Stopfer J E, Domchek S

机构信息

Center for Community-Based Research and Health Disparities, University of Pennsylvania, Philadelphia, PA 19104, USA.

出版信息

Public Health Genomics. 2010;13(7-8):440-8. doi: 10.1159/000293990. Epub 2010 Mar 17.

Abstract

BACKGROUND

Limited empirical data are available on the effects of genetic counseling and testing among African American women.

OBJECTIVE

To evaluate the effects of genetic counseling and testing in African American women based on different levels of exposure: (a) women who were randomized to culturally tailored (CTGC) and standard genetic counseling (SGC) to women who declined randomization (non-randomized group), (b) participants and non-participants in genetic counseling, and (c) BRCA1 and BRCA2 (BRCA1/2) test result acceptors and decliners.

DESIGN

Randomized trial of genetic counseling conducted from February 2003 to November 2006.

MEASURES

We evaluated changes in perceived risk of developing breast cancer and cancer worry.

RESULTS

Women randomized to CTGC and SGC did not differ in terms of changes in risk perception and cancer worry compared to decliners. However, counseling participants had a significantly greater likelihood of reporting reductions in perceived risk compared to non-participants (p = 0.03). Test result acceptors also had a significantly greater likelihood of reporting decreases in cancer worry (p = 0.03). However, having a cancer history (p = 0.03) and a BRCA1/2 prior probability (p = 0.04) were associated with increases in cancer worry.

CONCLUSIONS

Although CTGC did not lead to significant improvements in perceived risk or psychological functioning, African American women may benefit from genetic counseling and testing. Continued efforts should be made to increase access to genetic counseling and testing among African American women at increased risk for hereditary disease. But, follow-up support may be needed for women who have a personal history of cancer and those with a greater prior probability of having a BRCA1/2 mutation.

摘要

背景

关于非裔美国女性接受遗传咨询和检测的影响,现有的实证数据有限。

目的

基于不同暴露水平评估非裔美国女性接受遗传咨询和检测的影响:(a) 随机分配到文化定制遗传咨询(CTGC)和标准遗传咨询(SGC)的女性与拒绝随机分组的女性(非随机分组);(b) 遗传咨询的参与者和非参与者;(c) BRCA1和BRCA2(BRCA1/2)检测结果接受者和拒绝者。

设计

2003年2月至2006年11月进行的遗传咨询随机试验。

测量指标

我们评估了患乳腺癌感知风险和癌症担忧的变化。

结果

与拒绝者相比,随机分配到CTGC和SGC的女性在风险感知和癌症担忧变化方面没有差异。然而,与非参与者相比,咨询参与者报告感知风险降低的可能性显著更高(p = 0.03)。检测结果接受者报告癌症担忧减少的可能性也显著更高(p = 0.03)。然而,有癌症病史(p = 0.03)和BRCA1/2先验概率(p = 0.04)与癌症担忧增加有关。

结论

尽管CTGC并未导致感知风险或心理功能有显著改善,但非裔美国女性可能从遗传咨询和检测中受益。应继续努力增加有遗传疾病高风险的非裔美国女性获得遗传咨询和检测的机会。但是,对于有个人癌症病史以及BRCA1/2突变先验概率更高的女性,可能需要后续支持。

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