ImportanceThe association of race and detection of pathogenic variants using wide-panel genetic testing for inherited retinal diseases (IRD), to our knowledge, has not been studied previously.ObjectiveTo investigate the genetic detection rates of wide-panel testing in Black and non-Hispanic White patients with IRDs.Design, Setting, ParticipantsThis 2-group comparison used retrospective patient data that were collected at the University of Michigan (UM) and Blueprint Genetics (BG). At UM, inclusion criteria included having a clinical IRD diagnosis, wide-panel genetic testing, and both parents and the patient self-identifying as the same race (Black or non-Hispanic White). Logistic regression analysis was used; the dependent variable was genetic test result (positive or negative/inconclusive) and the independent variables were race, age, sex, phenotype, and number of genes tested. In the BG database, patients with wide-panel testing and self-reported race were included; detection rate comparison analysis based on race was performed using χ2 test of independence. These data were analyzed from October 30, 2013, through October 26, 2022.Main Outcome and MeasureGenetic test result was considered positive if pathogenic/likely pathogenic variants were detected.ResultsA total of 572 patients were included in UM, 295 were males (51.6%). Mean age was 45 years. There were 54 Black patients (9.4%) and 518 White patients (90.6%). Black race (odds ratio [OR], 0.25; 95% CI, 0.14-0.46; P < .001) and age (OR per 10 years, 0.84; 95% CI, 0.76-0.92; P < .001) were independently associated with decreased odds of a positive test. In the BG database, 142 of 320 of Black patients (44.4%) had a positive/likely positive test result, a proportion lower than White patients (1691 of 2931 [57.7%]) (χ2 = 18.65; df = 1; P < .001).Conclusions and RelevanceResults from this study highlight a lower genetic detection rate for Black patients than for White patients with IRDs. This supports a concern that the current development of IRD therapeutics is highly dependent on the ability to identify the genetic cause of disease. Patients with no known genetic diagnosis may be disadvantaged in terms of prognostication, inheritance counseling, reproductive decision-making, and eligibility for potential therapeutic options, including clinical trials. As future treatments become available, these findings suggest the need to examine the genetic detection rates across majority and minority subgroups alike.

中文翻译：

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遗传性视网膜疾病遗传检出率的种族差异


重要性据我们所知，使用宽面板基因检测遗传性视网膜疾病 （IRD） 的种族与致病性变异检测之间的关联以前尚未研究过。目的调查黑人和非西班牙裔白人患者宽谱检测的基因检出率，包括 IRDs.Design、 Setting、参与者 这个 2 组比较使用了在密歇根大学 （UM） 和 Blueprint Genetics （BG） 收集的回顾性患者数据。在 UM，纳入标准包括临床 IRD 诊断、宽面板基因检测以及父母和患者自我认同为同一种族（黑人或非西班牙裔白人）。采用 Logistic 回归分析;因变量是基因检测结果（阳性或阴性/不确定），自变量是种族、年龄、性别、表型和检测基因数量。在 BG 数据库中，包括进行宽面板测试和自我报告种族的患者;使用 χ2 独立性检验进行基于种族的检出率比较分析。这些数据从 2013 年 10 月 30 日到 2022 年 10 月 26 日进行了分析。结果UM 共纳入 572 例患者，其中男性 295 例 （51.6%）。平均年龄为 45 岁。有 54 名黑人患者 （9.4%） 和 518 名白人患者 （90.6%）。黑人种族 （比值比 [OR]，0.25;95% CI，0.14-0.46;P < .001） 和年龄 （OR 每 10 年，0.84;95% CI，0.76-0.92;P < .001） 与阳性检测几率降低独立相关。在 BG 数据库中，320 名黑人患者中有 142 名 （44.4%） 的检测结果呈阳性/可能呈阳性，比例低于白人患者（2931 例中的 1691 例 [57.7%]） （χ2 = 18.65;df = 1;P < .001）。结论和相关性本研究的结果强调，黑人患者的基因检出率低于 IRD 白人患者。这支持了一种担忧，即 IRD 疗法的当前开发高度依赖于确定疾病遗传原因的能力。没有已知基因诊断的患者可能在预后、遗传咨询、生殖决策和潜在治疗选择（包括临床试验）的资格方面处于不利地位。随着未来治疗方法的出现，这些发现表明需要检查多数和少数亚组的基因检出率。