Beattie Mary S, Copeland Kelli, Fehniger Julia, Cheung Eleanor, Joseph Galen, Lee Robin, Luce Judith
J Health Care Poor Underserved. 2013 Aug;24(3):1150-66. doi: 10.1353/hpu.2013.0151.
Outcomes after genetic testing for hereditary breast and ovarian cancer (HBOC) syndrome have not been well studied in underserved populations. We surveyed 1,123 BRCA testers from a genetic counseling program serving an academic cancer center (n=1,045) and a public county hospital (n=78) a median of 3.7 years after testing for mutations in BRCA1 and BRCA2 (breast cancer susceptibility genes). We compared genetic counseling outcomes, cancer screening rates, and self-reported general health. We found no differences in genetic counseling outcomes between hospitals. Breast cancer screening rates were similarly high at both hospitals, which are warranted in this high-risk population. Screening rates for ovarian, colon, and skin cancer were significantly lower in participants from the public hospital. BRCA results were not a predictor of general health at either hospital. When creating a genetic counseling program that serves women in different hospital settings, providers should emphasize guidelines-based screening recommendations for all patients.
针对遗传性乳腺癌和卵巢癌（HBOC）综合征进行基因检测后的结果，在医疗服务不足的人群中尚未得到充分研究。我们对来自一个为学术癌症中心（n = 1045）和一家公立县医院（n = 78）提供服务的遗传咨询项目的1123名BRCA检测者进行了调查，调查时间为检测BRCA1和BRCA2（乳腺癌易感基因）突变后的中位数3.7年。我们比较了遗传咨询结果、癌症筛查率和自我报告的总体健康状况。我们发现两家医院在遗传咨询结果方面没有差异。两家医院的乳腺癌筛查率都同样高，在这个高危人群中这是有必要的。公立医院参与者的卵巢癌、结肠癌和皮肤癌筛查率显著较低。在两家医院，BRCA检测结果都不是总体健康状况的预测指标。在创建一个为不同医院环境中的女性提供服务的遗传咨询项目时，医疗服务提供者应强调针对所有患者基于指南的筛查建议。
