Healthcare disparities in genomic medicine are well described. Despite some improvements, we continue to see fewer individuals of African American, Asian, and Hispanic ancestry undergo genetic counseling and testing compared to those of European ancestry. It is well established that variant of uncertain significance (VUS) rates are higher among non‐European ancestral groups undergoing multi‐gene hereditary cancer panel testing. However, pathogenic variant (PV) yields, and genomic data in general, are often reported in aggregate and derived from cohorts largely comprised of individuals of European ancestry. We performed a retrospective review of clinical and ancestral data for individuals undergoing multi‐gene hereditary cancer panel testing to determine ancestry‐specific PV and VUS rates. An ancestry other than European was reported in 29,042/104,851 (27.7%) of individuals. Compared to Europeans (9.4%), individuals of Middle Eastern ancestry were more likely to test positive for one or more pathogenic variants (12.1%, p  = .0025), while African Americans were less likely (7.9%, p  < .0001). Asian and Middle Eastern individuals were most likely (34.8% and 33.2%, respectively) to receive a report with an overall classification of VUS, while individuals of Ashkenazi Jewish and European ancestry were least likely (17.1% and 20.4%, respectively). These data suggest that in addition to higher VUS rates, there may be ancestry‐specific PV yields. Providing aggregate data derived from cohorts saturated with European individuals does not adequately reflect genetic testing outcomes in minority groups, and interrogation of ancestry‐specific data is a step toward a more personalized risk assessment.

中文翻译：

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祖先特定的遗传性癌症专家组的成果：朝着更加个性化的风险评估迈进。

基因组医学中的医疗保健差异已得到很好的描述。尽管取得了一些进步，但与欧洲血统相比，我们仍然看到更少的非洲裔美国人，亚洲人和西班牙裔血统的个体接受了基因咨询和检测。公认的是，接受多基因遗传性癌症专家组测试的非欧洲祖先群体的不确定性显着性（VUS）率较高。但是，病原体变异（PV）的产量和一般的基因组数据通常是汇总报告的，并且来源于主要由欧洲血统的个体组成的队列。我们对接受多基因遗传性癌症专家小组测试的患者的临床和祖传数据进行了回顾性审查，以确定祖先特异性的PV和VUS率。在29,042 / 104中报告了欧洲以外的血统，851人（27.7％）。与欧洲人（9.4％）相比，中东血统的个体更有可能对一种或多种病原体进行测试呈阳性（12.1％，p  = .0025），而非洲裔美国人的可能性较小（7.9％，p  <.0001）。亚洲和中东地区的个人最有可能（分别为34.8％和33.2％）收到一份对VUS进行总体分类的报告，而Ashkenazi犹太人和欧洲血统的个人则是最不可能的（分别为17.1％和20.4％）。这些数据表明，除了更高的VUS率外，可能还有祖先特定的PV产量。提供来自欧洲人群饱和的队列的汇总数据不足以反映少数群体的基因检测结果，对特定血统的数据进行查询是朝着更加个性化的风险评估迈出的一步。