Equitable Representation of Race, Ethnicity, and Ancestry Among Genomic Studies of Preterm Birth: A Systematic Review

早产基因组研究中种族、民族和祖籍的公平代表性:系统性综述

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Abstract

We conducted a systematic review of representation of race, ethnicity, and ancestry among genomic studies of preterm birth. Our data sources included CINHAL, EMBASE, MEDLINE (PubMed), and Scopus. Studies were included if they were human, genomic studies of preterm birth that analyzed greater than 1,000 genes and included race, ethnicity, and/or ancestry information. Two authors independently reviewed all abstracts and full-text manuscripts. Twelve studies were included. Ancestry was reported for 139,189 (93.6%) participants. Race was reported for 4,841 (3.3%) participants and ethnicity was reported for 7,154 (5.0%) participants. Of the 148,644 births represented in this systematic review, over 90% were reported to be of European ancestry, and race and ethnicity were not further described. When examining the smaller subset of individuals described by race alone, 2,444 individuals were identified as Black or African American and 1,853 were identified as White. Race, ethnicity, and ancestry were not reported in a uniform manner, which makes ascertainment of the genetic contribution to population differences in preterm birth inequities impossible. When reported as race, ethnicity and ancestry, Black or African American populations were under-represented among the studies in this review. Research of the genomics of preterm birth not only requires increased representation of populations that are disproportionately affected, but it also requires standardized reporting of race, ethnicity, and ancestry.

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