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在BRCA1/2基因检测结果不确定的女性中,没有发现虚假安慰的证据。

No evidence of false reassurance among women with an inconclusive BRCA1/2 genetic test result.

作者信息

Dorval Michel, Gauthier Geneviève, Maunsell Elizabeth, Dugas Michel J, Rouleau Isabelle, Chiquette Jocelyne, Plante Marie, Laframboise Rachel, Gaudet Michel, Bridge Peter J, Simard Jacques

机构信息

Unité de recherche en santé des populations, Centre hospitalier affilié universitaire de Québec, Hôpital du Saint-Sacrement, 1050 chemin Sainte-Foy, Québec, Québec, Canada G1S 4L8.

出版信息

Cancer Epidemiol Biomarkers Prev. 2005 Dec;14(12):2862-7. doi: 10.1158/1055-9965.EPI-05-0512.

Abstract

BACKGROUND

Little is known about how women who receive an inconclusive result from BRCA1/2 testing interpret their result. Clinical observations suggest that some of them may be falsely reassured and, consequently, may not adhere to recommended surveillance. The purpose of this study is to evaluate whether women with inconclusive BRCA1/2 test results are falsely reassured.

METHODS

Participants were adult women with a family history suggestive of a germ-line mutation in either the BRCA1 or the BRCA2 gene who underwent genetic testing in the context of the interdisciplinary research program INHERIT BRCAs. Data were collected using self-administered questionnaires at genetic counseling and 1 month after result disclosure. Reassurance was assessed through indicators of cancer risk perception, cancer worry, relief following result disclosure, painfulness of the test result, and its effect on quality of life.

RESULTS

Five-hundred women (105 carriers, 140 noncarriers, and 255 inconclusive) were included in this analysis. Compared to noncarriers, women with inconclusive results had higher cancer risk perception, were more worried about cancer, were less relieved by their test result, and perceived their quality of life as being more adversely affected by it.

CONCLUSION

The differences observed between noncarriers and women who received an inconclusive result run counter to the hypothesis that the latter are falsely reassured following BRCA1/2 testing. For clinicians, our findings show the value of taking precautions to fully explain to women that inconclusive results do not rule out the possibility that they still may face a higher risk of developing breast and/or ovarian cancer.

摘要

背景

对于接受BRCA1/2检测结果不确定的女性如何解读其结果,人们知之甚少。临床观察表明,其中一些女性可能会得到错误的安心感,因此可能不遵守推荐的监测措施。本研究的目的是评估BRCA1/2检测结果不确定的女性是否会得到错误的安心感。

方法

参与者为成年女性,她们有提示BRCA1或BRCA2基因种系突变的家族史,并在跨学科研究项目INHERIT BRCAs的背景下接受了基因检测。在遗传咨询时以及结果披露后1个月,通过自我填写问卷收集数据。通过癌症风险认知指标、癌症担忧程度、结果披露后的宽慰程度、检测结果的痛苦程度及其对生活质量的影响来评估安心感。

结果

本分析纳入了500名女性(105名携带者、140名非携带者和255名结果不确定者)。与非携带者相比,结果不确定的女性有更高的癌症风险认知,更担心患癌,对检测结果的宽慰程度更低,并且认为她们的生活质量受到的负面影响更大。

结论

在非携带者和结果不确定的女性之间观察到的差异与以下假设相悖,即后者在BRCA1/2检测后会得到错误的安心感。对于临床医生而言,我们的研究结果表明,采取预防措施向女性充分解释不确定结果并不排除她们仍可能面临更高的患乳腺癌和/或卵巢癌风险的可能性是有价值的。

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