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大型综合医疗系统中女性患者的遗传咨询转诊及BRCA1/2检测相关特征。

Characteristics associated with genetic counseling referral and BRCA1/2 testing among women in a large integrated health system.

作者信息

Bellcross Cecelia A, Peipins Lucy A, McCarty Frances A, Rodriguez Juan L, Hawkins Nikki A, Hensley Alford Sharon, Leadbetter Steven

机构信息

Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.

Epidemiology and Applied Research Branch, Division of Cancer Prevention and Control, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.

出版信息

Genet Med. 2015 Jan;17(1):43-50. doi: 10.1038/gim.2014.68. Epub 2014 Jun 19.

Abstract

BACKGROUND

Evidence shows underutilization of cancer genetics services. To explore the reasons behind this underutilization, this study evaluated characteristics of women who were referred for genetic counseling and/or had undergone BRCA1/2 testing.

METHODS

An ovarian cancer risk perception study stratified 16,720 eligible women from the Henry Ford Health System into average-, elevated-, and high-risk groups based on family history. We randomly selected 3,307 subjects and interviewed 2,524 of them (76.3% response rate).

RESULTS

Among the average-, elevated-, and high-risk groups, 2.3, 10.1, and 20.2%, respectively, reported genetic counseling referrals, and 0.8, 3.3, and 9.5%, respectively, reported having undergone BRCA testing. Personal breast cancer history, high risk, and perceived ovarian cancer risk were associated with both referral and testing. Discussion of family history with a doctor predicted counseling referral, whereas belief that family history influenced risk was the strongest BRCA testing predictor. Women perceiving their cancer risk as much higher than other women their age were twice as likely (95% confidence interval: 2.0-9.6) to report genetic counseling referral.

CONCLUSION

In a health system with ready access to cancer genetic counseling and BRCA testing, women who were at high risk underutilized these services. There were strong associations between perceived ovarian cancer risk and genetic counseling referral, and between a belief that family history influenced risk and BRCA testing.

摘要

背景

有证据表明癌症遗传学服务未得到充分利用。为探究这种未充分利用背后的原因,本研究评估了被转诊进行遗传咨询和/或已接受BRCA1/2检测的女性的特征。

方法

一项卵巢癌风险认知研究将亨利福特健康系统的16720名符合条件的女性根据家族史分为低风险、中风险和高风险组。我们随机选择了3307名受试者,并对其中2524名进行了访谈(应答率为76.3%)。

结果

在低风险、中风险和高风险组中,分别有2.3%、10.1%和20.2%的女性报告有遗传咨询转诊,分别有0.8%、3.3%和9.5%的女性报告已接受BRCA检测。个人乳腺癌病史、高风险以及感知到的卵巢癌风险与转诊和检测均相关。与医生讨论家族史可预测咨询转诊,而认为家族史会影响风险是BRCA检测的最强预测因素。认为自己患癌风险比同龄女性高得多的女性报告遗传咨询转诊的可能性是前者的两倍(95%置信区间:2.0 - 9.6)。

结论

在一个能够方便获得癌症遗传咨询和BRCA检测的医疗系统中,高风险女性未充分利用这些服务。感知到的卵巢癌风险与遗传咨询转诊之间,以及认为家族史会影响风险与BRCA检测之间存在密切关联。

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