Racial/ethnic disparities in the diagnostic efficacy of genetic testing for hearing loss have been described. These disparities may relate to differences in variant classification between different racial/ethnic groups, which may, in turn, derive from disparate representation of these groups in the published literature. We sought to quantify racial/ethnic disparities in the published literature on the human genetics of hearing loss. We conducted a search of PubMed for articles describing single-gene, multiple-gene, or whole-exome sequencing for individuals with sensorineural hearing loss. Data on the included subjects, including race/ethnicity and/or region of origin, a number of subjects tested, and method of testing, were extracted. 1355 populations representing 311,092 subjects from 1165 studies were included. Overall, subjects of European and Asian ancestry were equivalently represented, but those of Latino American, African, and indigenous North American ancestry were significantly underrepresented; over 96% of all subjects in the published literature were European or Asian. Within populations, the majority of subjects derived from a small subset of countries. The observed disparity was greater for multiple-gene and whole-exome sequencing than for single-gene sequencing. These findings illustrate the large disparity in the published literature on the genetics of hearing loss, and demonstrate the need for increased representation of Latino American, African, and indigenous North American populations.

已经描述了听力损失基因检测诊断功效的种族/民族差异。这些差异可能与不同种族/族裔群体之间的变异分类差异有关，而这又可能源于已发表文献中这些群体的不同代表性。我们试图量化已发表的有关人类听力损失遗传学文献中的种族/民族差异。我们在 PubMed 上搜索了描述感音神经性听力损失患者的单基因、多基因或全外显子组测序的文章。提取了有关受试者的数据，包括种族/民族和/或原籍地区、测试的受试者数量以及测试方法。 1355 个人群代表来自 1165 项研究的 311,092 名受试者。总体而言，欧洲和亚洲血统的受试者的代表性相当，但拉丁美洲、非洲和北美土著血统的受试者的代表性明显不足；已发表文献中超过 96% 的主题是欧洲或亚洲。在人群中，大多数受试者来自一小部分国家。多基因和全外显子组测序观察到的差异比单基因测序更大。这些发现说明了已发表的有关听力损失遗传学的文献中存在巨大差异，并表明需要增加拉丁美洲、非洲和北美土著人群的代表性。