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BRCA1/2 基因检测对家族关系的正、负面影响的发生率和预测因素:一项为期 3 年的随访研究。

Incidence and predictors of positive and negative effects of BRCA1/2 genetic testing on familial relationships: a 3-year follow-up study.

机构信息

Faculté de Pharmacie, Université Laval, Québec, Canada.

出版信息

Genet Med. 2012 Jan;14(1):60-8. doi: 10.1038/gim.0b013e3182310a7f. Epub 2011 Sep 26.

Abstract

PURPOSE

Little is known about the long-term impact of BRCA1/2 testing on the relationships between family members. We assessed the incidence of positive and negative family relationship effects of BRCA1/2 testing in the 3 years after result disclosure and identified predictors of these effects.

METHODS

A total of 485 women and 67 men who had undergone BRCA1/2 testing were asked 3 years later whether having been tested had improved and/or disrupted relationships with their relatives. The associations with sociodemographic, medical, and psychosocial characteristics were assessed.

RESULTS

Globally, 85.1% did not report any positive or negative effects of genetic testing on family relationships. Positive and negative effects were reported by 13.2% and 3.7% of participants, respectively. Reporting positive relationship effects was associated with older age, intolerance for uncertainty, cancer-specific distress, and more social support. Low education, positive attitude toward prophylactic mastectomy, and low social support increased the likelihood of negative effects.

CONCLUSION

Our findings do not support the belief that family relationships are frequently disrupted by BRCA1/2 testing. Understanding that most family relationships are unchanged long term by genetic testing may help genetic service providers encourage those considering testing to overcome hesitancy related to potential difficulties of communicating results to relatives.

摘要

目的

BRCA1/2 检测对家庭成员关系的长期影响知之甚少。我们评估了 BRCA1/2 检测结果公布后 3 年内阳性和阴性家庭关系影响的发生率,并确定了这些影响的预测因素。

方法

共有 485 名女性和 67 名男性接受了 BRCA1/2 检测,3 年后他们被问及检测是否改善和/或破坏了与亲属的关系。评估了与社会人口统计学、医学和心理社会特征的关联。

结果

总体而言,85.1%的人报告 BRCA1/2 检测对家庭关系没有任何积极或消极影响。分别有 13.2%和 3.7%的参与者报告了积极和消极的关系影响。报告积极的关系影响与年龄较大、无法容忍不确定性、癌症特异性困扰以及更多的社会支持有关。低教育程度、对预防性乳房切除术的积极态度以及低社会支持增加了产生负面影响的可能性。

结论

我们的研究结果不支持家庭关系经常因 BRCA1/2 检测而破裂的观点。了解到大多数家庭关系在长期内不受基因检测的影响,这可能有助于遗传服务提供者鼓励那些考虑进行检测的人克服与向亲属传达结果相关的潜在困难的犹豫。

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