Department of Epidemiology and Biostatistics, Boston University School of Public Health, Boston, Massachusetts.
Department of Community Health Sciences, Boston University School of Public Health, Boston, Massachusetts.
Cancer Epidemiol Biomarkers Prev. 2024 Jan 9;33(1):55-62. doi: 10.1158/1055-9965.EPI-23-0596.
Public health calls to ensure equity in genomics and precision medicine necessitate a closer examination of how these efforts might differentially affect access to genetic services across demographic subgroups. This study set out to examine racial/ethnic disparities along the cancer genetic service delivery continuum.
Retrospective data are drawn from 15 clinical sites across 6 U.S. States. Individuals who screened at-risk for hereditary cancer were: (i) referred/scheduled to see a genetic counselor (referral workflow), or (ii) offered genetic testing at the point-of-care (POC testing workflow). Logistic regression analyses evaluated the associations between race/ethnicity and several outcomes including appointment scheduling, genetic counseling, and genetic testing, controlling for demographics, clinical factors, and county-level covariates.
A total of 14,527 patients were identified at-risk. Genetic testing uptake was significantly higher at POC sites than referral sites (34% POC vs. 11% referral, P < 0.001). Race/ethnicity was significantly associated with testing uptake among all sites, with non-Hispanic Blacks having lower odds of testing compared with non-Hispanic Whites [aOR = 0.84; 95% confidence interval (CI), 0.71-1.00; P = 0.049]. Moreover, this disparity was observed at referral sites, but not POC sites. Among patients scheduled, non-Hispanic Blacks had lower odds of counseling (aOR = 0.28; 95% CI, 0.17-0.47; P < 0.001).
Findings suggest that factors influencing genetic counseling show rates may be driving disparities in genetic testing.
Strategies to reduce barriers to seeing a genetic counselor, including modifications to clinical workflow, may help mitigate racial/ethnic disparities in genetic testing.
公共卫生呼吁确保基因组学和精准医学的公平性,这需要更仔细地研究这些努力如何在不同的人口亚组中对获取遗传服务产生不同的影响。本研究旨在检查癌症遗传服务提供连续体中的种族/民族差异。
回顾性数据来自美国 6 个州的 15 个临床站点。筛查遗传性癌症高危人群的个体:(i)转介/安排与遗传咨询师见面(转介工作流程),或(ii)在护理点(POC 测试工作流程)提供遗传测试。逻辑回归分析评估了种族/民族与预约安排、遗传咨询和遗传测试等几个结果之间的关联,同时控制了人口统计学、临床因素和县级协变量。
共确定了 14527 名高危患者。POC 站点的基因检测率明显高于转介站点(34% POC 与 11% 转介,P < 0.001)。种族/民族与所有站点的检测率显著相关,与非西班牙裔白人相比,非西班牙裔黑人检测的可能性较低[aOR = 0.84;95%置信区间(CI),0.71-1.00;P = 0.049]。此外,这种差异在转介站点观察到,但在 POC 站点未观察到。在预约的患者中,非西班牙裔黑人接受咨询的可能性较低[aOR = 0.28;95% CI,0.17-0.47;P < 0.001]。
研究结果表明,影响遗传咨询的因素可能导致遗传检测的差异。
减少与见遗传咨询师相关的障碍的策略,包括对临床工作流程的修改,可能有助于减轻遗传检测中的种族/民族差异。