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医疗服务提供者对非裔美国女性进行BRCA1/2基因咨询与检测的看法及做法。

Providers' perceptions and practices regarding BRCA1/2 genetic counseling and testing in African American women.

作者信息

Graves Kristi D, Christopher Juleen, Harrison Toni Michelle, Peshkin Beth N, Isaacs Claudine, Sheppard Vanessa B

机构信息

Lombardi Comprehensive Cancer Center, Cancer Control Program, Fisher Center for Familial Cancer Research, Georgetown University, Washington, DC 20007, USA.

出版信息

J Genet Couns. 2011 Dec;20(6):674-89. doi: 10.1007/s10897-011-9396-3. Epub 2011 Aug 6.

Abstract

We examined healthcare providers' perceptions of genetic counseling and testing in African American women at moderate to high-risk of carrying a BRCA1/2 mutation. We conducted 20 in-depth interviews with genetic counselors (n = 5), medical oncologists (n = 8), obstetrician/gynecologists (n = 2) and surgeons (n = 5). Interviews were audiotaped, transcribed and independently coded by two individuals using a content analysis approach. Seven themes emerged relevant to providers' perceptions of African American women's use of BRCA1/2 genetic services: access factors, cultural beliefs and preferences, effects of testing, patient motivators for genetic counseling and testing, patient-provider communication, reasons for provider referral, and reasons for patient refusal. Providers identified individual- and system-level barriers to African American women's use of genetic services, including lack of follow-up after referrals to genetic specialists and challenges to obtaining financial coverage for under- and uninsured high-risk women. Results have implications for physician and patient education regarding appropriate referrals to and uptake of genetic services in at-risk African American women.

摘要

我们调查了医疗服务提供者对携带BRCA1/2突变中度至高度风险的非裔美国女性进行遗传咨询和检测的看法。我们对遗传咨询师(n = 5)、医学肿瘤学家(n = 8)、妇产科医生(n = 2)和外科医生(n = 5)进行了20次深入访谈。访谈进行了录音、转录,并由两人采用内容分析方法进行独立编码。出现了七个与医疗服务提供者对非裔美国女性使用BRCA1/2基因服务的看法相关的主题:获取因素、文化信仰和偏好、检测效果、患者进行遗传咨询和检测的动机、医患沟通、医疗服务提供者转诊的原因以及患者拒绝的原因。医疗服务提供者确定了非裔美国女性使用基因服务的个人层面和系统层面的障碍,包括转诊至遗传专家后缺乏后续跟进,以及为低收入和未参保的高风险女性获得保险覆盖面临的挑战。研究结果对医生和患者在高危非裔美国女性中进行适当转诊和接受基因服务的教育具有启示意义。

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