真实世界精准肿瘤学数据登记中的种族和民族差异。

Cheung Alexander T M, Palapattu Elina L, Pompa Isabella R, Aldrighetti Christopher M, Niemierko Andrzej, Willers Henning, Huang Franklin, Vapiwala Neha, Van Allen Eliezer, Kamran Sophia C

NYU Grossman School of Medicine, New York, NY, USA.

Broad Institute of Harvard and MIT, Cambridge, MA, USA.

NPJ Precis Oncol. 2023 Jan 19;7(1):7. doi: 10.1038/s41698-023-00351-6.

Biorepositories enable precision oncology research by sharing clinically annotated genomic data, but it remains unknown whether these data registries reflect the true distribution of cancers in racial and ethnic minorities. Our analysis of Project Genomics Evidence Neoplasia Information Exchange (GENIE), a real-world cancer data registry designed to accelerate precision oncology discovery, indicates that minorities do not have sufficient representation, which may impact the validity of studies directly comparing mutational profiles between racial/ethnic groups and limit generalizability of biomarker discoveries to all populations.

生物样本库通过共享临床注释的基因组数据推动精准肿瘤学研究，但这些数据登记处是否反映了种族和少数民族癌症的真实分布情况仍不清楚。我们对基因组证据肿瘤信息交换项目（GENIE）的分析表明，少数群体的代表性不足，该项目是一个旨在加速精准肿瘤学发现的真实世界癌症数据登记处。这可能会影响直接比较种族/民族群体间突变谱的研究的有效性，并限制生物标志物发现对所有人群的普遍性。