Guo Fangjian, Scholl Matthew, Fuchs Erika L, Berenson Abbey B, Kuo Yong-Fang
Department of Obstetrics & Gynecology, University of Texas Medical Branch at Galveston, Galveston, TX, United States.
Center for Interdisciplinary Research in Women's Health, University of Texas Medical Branch at Galveston, Galveston, TX, United States.
Prev Med Rep. 2022 Feb 19;26:101738. doi: 10.1016/j.pmedr.2022.101738. eCollection 2022 Apr.
Since the 1990 s discovery of and pathogenic variants in breast or ovarian cancer patients, genetic testing has been recommended as part of a targeted, individualized approach for cancer prevention and treatment in eligible individuals. The aim of this study was to assess trends in test rates and results among adult women aged 18 to 65 in the US between 2007 and 2017. Using Clinformatics© Data Mart (CDM) Electronic Health Records, we included 223,211 women 18-65 years old with documented testing results from 1/1/2007-9/30/2017. Positive results indicated the presence of pathogenic variantss. test rates increased significantly from 34 per 100,000 women in 2007 to 488 per 100,000 women in 2016 (APC 30.8, 95% confidence interval 26.6-35.1). Documented positive results decreased from 86.1% in 2007 to 78.0% in 2017(APC -0.6, 95% confidence interval -1.4-0.2). From 2007 to 2017, decreasing trends in the rates of documented positive results were observed among all three age groups (18-39, 40-54, and 55-65 years; largest in 40-54 group). In 2015-2017, women with positive test results were less likely to be non-Hispanic Whites, cancer patients, or living in the Northeast or an area with average household income ≥$50,000. Between 2007 and 2017, increasing use of testing for cancer prevention and treatment occurred, correlating to the observed decreasing documented positive test rate. The utilization of testing and corresponding test results differed significantly across races/ethnicities, suggestive of a divergent application of the same testing criteria.
自20世纪90年代在乳腺癌或卵巢癌患者中发现 和 致病变异以来,基因检测已被推荐作为符合条件个体癌症预防和治疗的针对性、个体化方法的一部分。本研究的目的是评估2007年至2017年美国18至65岁成年女性中 检测率和检测结果的趋势。使用Clinformatics©数据集市(CDM)电子健康记录,我们纳入了2007年1月1日至2017年9月30日有记录的 检测结果的223,211名18 - 65岁女性。阳性结果表明存在致病变异。 检测率从2007年的每10万名女性34例显著增加到2016年的每10万名女性488例(年度百分比变化30.8,95%置信区间26.6 - 35.1)。有记录的阳性结果从2007年的86.1%降至2017年的78.0%(年度百分比变化 -0.6,95%置信区间 -1.4至0.2)。从2007年到2017年,在所有三个年龄组(18 - 39岁、40 - 54岁和55 - 65岁;40 - 54岁组降幅最大)中均观察到有记录的阳性结果率呈下降趋势。在2015 - 2017年,检测结果为阳性的女性不太可能是非西班牙裔白人、癌症患者,或居住在东北部或家庭平均收入≥5万美元地区。在2007年至2017年期间,用于癌症预防和治疗的 检测使用增加,这与观察到的有记录的阳性检测率下降相关。检测的使用情况和相应的检测结果在不同种族/族裔之间存在显著差异 , 这表明相同检测标准的应用存在差异。