Racial and Ethnic Disparities in Genetic Testing at a Hereditary Breast and Ovarian Cancer Center
Racial and Ethnic Disparities in Genetic Testing at a Hereditary Breast and Ovarian Cancer Center
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DOI：
10.1007/s11606-020-06064-x
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发表时间：
2020-07-27
影响因子：
5.7
通讯作者：
Holcomb, Kevin M.
中科院分区：
文献类型：
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作者：
Chapman-Davis, Eloise;Zhou, Zhen Ni;Holcomb, Kevin M.
背景：先前的研究表明，转诊遗传咨询和完成基因检测因种族/民族而异；然而，数据有限。目的 我们试图评估遗传性乳腺癌和卵巢癌中心跨种族/民族的基因检测模式和临床结果。设计：对在遗传性乳腺癌和卵巢癌中心接受遗传评估的所有患者的病历进行审查，并按自我报告的种族/民族（非西班牙裔白人、西班牙裔、非西班牙裔黑人和亚洲人）进行分层。参与者：共有 1666 名患者符合纳入标准（非西班牙裔白人，1367；西班牙裔，85；非西班牙裔黑人，101；亚洲人，113）。 主要测量：使用 Kruskal-Wallis 检验、卡方检验或 Fisher 精确检验对接受基因检测的患者的人口统计学、患者特征和转诊模式进行分析，并按自我报告的种族/民族进行分层。回顾了致病性突变和意义不明的变异（VUS）。对基因突变患者的结果以及乳腺癌和/或妇科恶性肿瘤的个人病史进行了比较。 主要结果：与所有其他种族相比，非西班牙裔白人更有可能因家族癌症史而被转诊，而非西班牙裔黑人、西班牙裔和亚洲人更有可能因个人癌症史而被转诊 (p < 0.001)。非西班牙裔黑人和西班牙裔在基因检测时更有可能患有晚期癌症 (p < 0.02)。当德系犹太人患者被排除在外时，突变率并没有因种族/族裔而异（p = 0.08）。在发现有 aBRCA1/2 突变的患者中，与所有其他种族相比，非西班牙裔白人更有可能接受癌症筛查和降低风险的手术 (p = 0.04)。 结论：少数族裔患者在癌症诊断后更有可能利用遗传服务，而由于家族癌症史而不太可能，这表明该人群错过了突变检测和癌症预防的机会。努力消除早期基因检测和指导癌症预防策略方面的种族/民族差异至关重要。
BACKGROUND: Prior studies suggest that referral to genetic counseling and completion of genetic testing vary by race/ethnicity; however, the data are limited. Objective We sought to evaluate patterns of genetic testing and clinical outcomes across race/ethnicity at a hereditary breast and ovarian cancer center.DESIGN: The medical records for all patients undergoing genetic assessment at a hereditary breast and ovarian cancer center were reviewed and stratified by self-reported race/ethnicity (non-Hispanic White, Hispanic, non-Hispanic Black, and Asian).PARTICIPANTS: A total of 1666 patients met inclusion criteria (non-Hispanic Whites, 1367; Hispanics, 85, non-Hispanic Blacks, 101; Asians, 113).MAIN MEASURES: Demographics, patient characteristics, and referral patterns for patients who underwent genetic testing were analyzed using Kruskal-Wallis tests, chi-square test, or Fisher's exact tests, stratifying by self-reported race/ethnicity. Pathogenic mutations and variants of unknown significance (VUS) were reviewed. Outcomes of patients with genetic mutations and personal history of breast and/or gynecologic malignancies were compared.KEY RESULTS: Non-Hispanic Whites were more likely to be referred due to family cancer history compared to all other ethnicities while Non-Hispanic Blacks, Hispanics, and Asians were more likely to be referred due to personal history of cancer (p < 0.001). Non-Hispanic Blacks and Hispanics were more likely to have advanced-stage cancer at the time of genetic testing (p < 0.02). Rates of mutations did not differ by race/ethnicity when Ashkenazi Jewish patients were excluded (p = 0.08). Among patients found to have aBRCA1/2 mutation, Non-Hispanic Whites were more likely to undergo cancer screening and risk-reducing surgery compared with all other ethnicities (p = 0.04).CONCLUSIONS: Minority patients were more likely to utilize genetic services following a cancer diagnosis and less likely due to family cancer history, suggesting a missed opportunity for mutation detection and cancer prevention in this population. Efforts to eradicate racial/ethnic disparities in early access to genetic testing and guided cancer prevention strategies are essential.