Prevalence and Healthcare Actions of Women in a Large Health System with a Family History Meeting the 2005 USPSTF Recommendation for BRCA Genetic Counseling Referral
Prevalence and Healthcare Actions of Women in a Large Health System with a Family History Meeting the 2005 USPSTF Recommendation for BRCA Genetic Counseling Referral
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DOI：
10.1158/1055-9965.epi-12-1280
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发表时间：
2013-04-01
影响因子：
3.8
通讯作者：
Peipins, Lucy A.
中科院分区：
文献类型：
--
作者：
Bellcross, Cecelia A.;Leadbetter, Steven;Peipins, Lucy A.
背景资料：2005年，美国预防服务工作组（USPSTF）发布了指导方针，概述了与BRCA 1/2突变风险增加相关的特定家族史模式，并建议高危人群接受遗传咨询和BRCA检测评估。本研究的目的是评估具有USPSTF风险增加家族史模式的个体的患病率，满足特定模式的频率，以及来自亨利福特卫生系统的女性中的医疗保健行动。作为评估卵巢癌风险认知和筛查研究的一部分，2，524随机选择的参与者完成了一个详细的采访（响应率76%），从最初的合格队列的16,720 women.Results：约6%的参与者有家族史满足一个或多个USPSTF模式。虽然这些妇女中有90%与她们的提供者分享了她们的家族史，但只有不到20%的人被转介接受遗传咨询，只有8%的人接受了基因检测。收入和教育水平较高的白人妇女更有可能接受转诊。在整个研究队列中报告BRCA检测的95名参与者中，78%没有符合USPSTF模式之一的家族史。结论：这些结果表明，具有增加风险家族史的女性的患病率高于USPSTF最初预测的水平，并且缺乏遗传服务提供者的认可和转诊。需要改善医疗基础设施和临床医生教育，以实现BRCA遗传咨询和检测的人群水平获益。癌症流行病学生物标志物Prev; 22（4）; 728-35。(C)2013年AACR。
Background: In 2005, the United States Preventive Services Task Force (USPSTF) released guidelines which outlined specific family history patterns associated with an increased risk for BRCA1/2 mutations, and recommended at-risk individuals be referred for genetic counseling and evaluation for BRCA testing. The purpose of this study was to assess the prevalence of individuals with a USPSTF increased-risk family history pattern, the frequency with which specific patterns were met, and resulting healthcare actions among women from the Henry Ford Health System.Methods: As part of a study evaluating ovarian cancer risk perception and screening, 2,524 randomly selected participants completed a detailed interview (response rate 76%) from an initial eligible cohort of 16,720 women.Results: Approximately 6% of participants had a family history fulfilling one or more of the USPSTF patterns. Although 90% of these women had shared their family history with their provider, less than 20% had been referred for genetic counseling and only8% had undergone genetic testing. Caucasian women with higher income and education levels were more likely to receive referrals. Among the 95 participants in the total study cohort who reported BRCA testing, 78% did not have a family history that met one of the USPSTF patterns.Conclusions: These results suggest a higher prevalence of women with an increased-risk family history than originally predicted by the USPSTF, and lack of provider recognition and referral for genetic services.Impact: Improvements in healthcare infrastructure and clinician education will be required to realize population level benefits from BRCA genetic counseling and testing. Cancer Epidemiol Biomarkers Prev; 22(4); 728-35. (C) 2013 AACR.