Low Referral Rate for Genetic Testing in Racially and Ethnically Diverse Patients Despite Universal Colorectal Cancer Screening.
Low Referral Rate for Genetic Testing in Racially and Ethnically Diverse Patients Despite Universal Colorectal Cancer Screening.
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DOI：
10.1016/j.cgh.2018.08.038
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发表时间：
2018-12
期刊：
影响因子：
--
通讯作者：
Kupfer SS
中科院分区：
文献类型：
--
作者：
Muller C;Lee SM;Barge W;Siddique SM;Berera S;Wideroff G;Tondon R;Chang J;Peterson M;Stoll J;Katona BW;Sussman DA;Melson J;Kupfer SS
指南建议对所有结直肠肿瘤进行错配修复缺陷评估，这可以增加对林奇综合征患者的识别。这对于少数族群来说尤其重要，因为他们的遗传综合症诊断不足。我们比较了从不同种族和民族的人群中收集的所有肿瘤样本（通用检测）的检测率和结果，以了解林奇综合征的特征。我们对 2012 年至 2016 年在 4 个学术中心测试的结直肠肿瘤进行了回顾性分析。肿瘤样本采集自 767 名结直肠癌患者（52% 非西班牙裔白人 [NHW]、26% 非裔美国人和 17% 西班牙裔患者）。我们评估了肿瘤检测的比率、遗传评估的建议、参加遗传评估的比率以及整体和按种族/民族的种系测试的表现。我们进行了单变量和多变量回归分析。总体而言，对 92% 的结直肠肿瘤进行了错配修复缺陷分析，种族/民族之间没有显着差异。然而，少数族裔患者被转诊进行基因评估的可能性明显较低（NHW 患者为 21.2%，非洲裔美国患者为 16.9%，西班牙裔患者为 10.9%；P = .02）。少数族裔患者的基因检测率也较低（NHW 患者为 10.7%，AA 患者为 6.0%，西班牙裔患者为 3.1%；P < .01）。在多变量分析中，非裔美国人种族、年龄和医疗中心与缺乏转诊进行基因评估和基因检测独立相关。在一项回顾性分析中，我们发现，尽管结直肠肿瘤分析率相似，但少数患者不太可能被推荐进行基因评估或接受林奇综合征种系检测。肿瘤检测后随访机构实践的改进可以减少少数族裔林奇诊断的障碍。
Guidelines recommend that all colorectal tumors be assessed for mismatch repair deficiency, which could increase identification of patients with Lynch syndrome. This is of particular importance for minority populations, in whom hereditary syndromes are under diagnosed. We compared rates and outcomes of testing all tumor samples (universal testing) collected from a racially and ethnically diverse population for features of Lynch syndrome. We performed a retrospective analysis of colorectal tumors tested from 2012 through 2016 at 4 academic centers. Tumor samples were collected from 767 patients with colorectal cancer (52% non-Hispanic white [NHW], 26% African American, and 17% Hispanic patients). We assessed rates of tumor testing, recommendations for genetic evaluation, rates of attending a genetic evaluation, and performance of germline testing overall and by race/ethnicity. We performed univariate and multivariate regression analyses. Overall, 92% of colorectal tumors were analyzed for mismatch repair deficiency without significant differences among races/ethnicities. However, minority patients were significantly less likely to be referred for genetic evaluation (21.2% for NHW patients vs 16.9% for African American patients and 10.9% for Hispanic patients; P = .02). Rates of genetic testing were also lower among minority patients (10.7% for NHW patients vs 6.0% for AA patients and 3.1% for Hispanic patients; P < .01). On multivariate analysis, African American race, older age, and medical center were independently associated with lack of referral for genetic evaluation and genetic testing. In a retrospective analysis, we found that despite similar rates of colorectal tumor analysis, minority patients are less likely to be recommended for genetic evaluation or to undergo germline testing for Lynch syndrome. Improvements in institutional practices in follow up after tumor testing could reduce barriers to diagnosis of Lynch diagnosis in minorities.
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影响因子：
168.9
作者：
Burn, John;Gerdes, Anne-Marie;Macrae, Finlay;Mecklin, Jukka-Pekka;Moeslein, Gabriela;Olschwang, Sylviane;Eccles, Diane;Evans, D. Gareth;Maher, Eamonn R.;Bertario, Lucio;Bisgaard, Marie-Luise;Dunlop, Malcolm G.;Ho, Judy W. C.;Hodgson, Shirley V.;Lindblom, Annika;Lubinski, Jan;Morrison, Patrick J.;Murday, Victoria;Ramesar, Raj;Side, Lucy;Scott, Rodney J.;Thomas, Huw J. W.;Vasen, Hans F.;Barker, Gail;Crawford, Gillian;Elliott, Faye;Movahedi, Mohammad;Pylvanainen, Kirsi;Wijnen, Juul T.;Fodde, Riccardo;Lynch, Henry T.;Mathers, John C.;Bishop, D. Timothy
通讯作者：
Bishop, D. Timothy
波多黎各西班牙裔人的错配修复蛋白表达与结直肠癌。
影响因子：
2.2
作者：
De Jesus-Monge, Wilfredo E.;Gonzalez-Keelan, Carmen;Zhao, Ronghua;Hamilton, Stanley R.;Rodriguez-Bigas, Miguel;Cruz-Correa, Marcia
通讯作者：
Cruz-Correa, Marcia
影响因子：
5.5
作者：
Mai, Phuong L.;Vadaparampil, Susan Thomas;Breen, Nancy;McNeel, Timothy S.;Wideroff, Louise;Graubard, Barry I.
通讯作者：
Graubard, Barry I.
影响因子：
39.2
作者：
Ladabaum U;Wang G;Terdiman J;Blanco A;Kuppermann M;Boland CR;Ford J;Elkin E;Phillips KA
通讯作者：
Phillips KA
影响因子：
45.3
作者：
Beamer, Laura C.;Grant, Marcia L.;MacDonald, Deborah J.
通讯作者：
MacDonald, Deborah J.