Perspective Recommendations on the use and reporting of race, ethnicity, and ancestry in genetic research: Experiences from the NHLBI TOPMed program

被引：34

作者：

Khan, Alyna T. ^{[1
,2
,6
]}

Gogarten, Stephanie M. ^{[1
,6
]}

McHugh, Caitlin P. ^{[1
]}

Stilp, Adrienne M. ^{[1
]}

Sofer, Tamar ^{[3
,4
]}

Bowers, Michael L. ^{[1
]}

Wong, Quenna ^{[1
]}

Cupples, L. Adrienne ^{[5
,6
]}

Hidalgo, Bertha ^{[7
]}

Johnson, Andrew D. ^{[8
,9
]}

McDonald, Merry -Lynn N. ^{[10
,11
]}

McGarvey, Stephen T. ^{[12
,13
,14
]}

Taylor, Matthew R. G. ^{[4
,15
]}

Fullerton, Stephanie M. ^{[5
,16
]}

Conomos, Matthew P. ^{[1
]}

Nelson, Sarah C. ^{[1
,2
]}

机构：

[1] Univ Washington, Dept Biostat, Seattle, WA 98195 USA

[2] Univ Washington, Inst Publ Hlth Genet, Seattle, WA 98195 USA

[3] Harvard Med Sch, Dept Med, Boston, MA USA

[4] Brigham & Womens Hosp, Div Sleep & Circadian Disorders, Boston, MA USA

[5] Boston Univ, Sch Publ Hlth, Dept Biostat, Boston, MA USA

[6] Boston Univ, Sch Publ Hlth, Dept Epidemiol, Boston, MA USA

[7] Univ Alabama Birmingham, Dept Epidemiol, Birmingham, AL USA

[8] Natl Heart Lung & Blood Inst, Div Intramural Res, Populat Sci Branch, Bethesda, MD USA

[9] Framingham Heart Dis Epidemiol Study, Framingham, MA USA

[10] Univ Alabama Birmingham, Dept Med, Birmingham, AL USA

[11] Univ Alabama Birmingham, Dept Genet, Birmingham, AL USA

[12] Brown Univ, Sch Publ Hlth, Dept Epidemiol, Providence, RI 02912 USA

[13] Brown Univ, Sch Publ Hlth, Int Hlth Inst, Providence, RI USA

[14] Brown Univ, Dept Anthropol, Providence, RI USA

[15] Univ Colorado, Adult Med Genet Program, Dept Med, Anschutz Med Campus, Aurora, CO USA

[16] Univ Washington, Dept Bioeth & Humanities, Seattle, WA USA

来源：

CELL GENOMICS | 2022年 / 2卷 / 08期

关键词：

POLYGENIC RISK SCORES; DIVERSITY; DISPARITIES; SCIENCE; OPPORTUNITIES; GENOMICS; STRATIFICATION; CONSEQUENCES; ASSOCIATION; CATEGORIES;

D O I：

10.1016/j.xgen.2022.100155

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

How race, ethnicity, and ancestry are used in genomic research has wide-ranging implications for how research is translated into clinical care and incorporated into public understanding. Correlation between race and genetic ancestry contributes to unresolved complexity for the scientific community, as illustrated by heterogeneous definitions and applications of these variables. Here, we offer commentary and recommendations on the use of race, ethnicity, and ancestry across the arc of genetic research, including data harmonization, analysis, and reporting. While informed by our experiences as researchers affiliated with the NHLBI Trans-Omics for Precision Medicine (TOPMed) program, these recommendations are applicable to basic and translational genomic research in diverse populations with genome-wide data. Moving forward, considerable collaborative effort will be required to ensure that race, ethnicity, and ancestry are described and used appropriately to generate scientific knowledge that yields broad and equitable benefit.

引用

页数：9

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