Cancer Research Center, Hampton University, Hampton, VA, USA.
Graduate Programs in Public Health, University of New England, Portland, ME, USA.
Genet Med. 2019 Dec;21(12):2676-2680. doi: 10.1038/s41436-019-0558-2. Epub 2019 Jun 4.
Minorities are often underrepresented in clinical cancer research yet the frequency of reporting of race in genomic sequencing studies of cancer is unknown. This scoping review determines the rate at which race is reported as a demographic variable, the factors associated with reporting of race, and the participation rates of minority populations.
PubMed was systematically searched from 1 January 2010 through 15 November 2018 and 11,014 studies were assessed for eligibility. Publications reporting genome or exome sequencing data for patients with one of the ten most common cancers in the United States were included.
A total of 231 publications containing sequencing data from 15,721 unique patients met inclusion criteria. Race was reported in 37% of studies compared with 84% of studies reporting age and 85% reporting gender. Reporting of race was associated with cohort size, sequencing method, familial cancer, cancers with disparities, and reporting of age and gender. Minority populations were significantly underpowered to detect recurrent pathogenic variants in most cancers.
Race is underreported as a demographic variable in genomic sequencing studies of cancer. Substantially increased efforts are needed to sequence patients from underrepresented populations to reduce health disparities in patients of non-European ancestry.
少数族裔在癌症临床研究中常常代表性不足，但癌症基因组测序研究中报告种族的频率尚不清楚。本范围综述旨在确定报告种族作为人口统计学变量的频率、与报告种族相关的因素，以及少数族裔人群的参与率。
从 2010 年 1 月 1 日至 2018 年 11 月 15 日，系统地对 PubMed 进行了检索，并评估了 11014 项研究的合格性。纳入了报告在美国最常见的十种癌症之一的患者的基因组或外显子测序数据的出版物。
共有 231 篇包含来自 15721 名独特患者的测序数据的出版物符合纳入标准。与报告年龄（84%）和性别（85%）的研究相比，研究报告种族的比例为 37%。报告种族与队列规模、测序方法、家族性癌症、存在差异的癌症以及年龄和性别报告有关。在大多数癌症中，少数族裔人群的检测能力明显不足，无法检测到复发性致病性变异。
在癌症的基因组测序研究中，种族作为人口统计学变量的报告不足。需要做出实质性的努力，对代表性不足的人群进行测序，以减少非欧洲血统患者的健康差异。
