Literature DB >> 36119389

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

Alyna T Khan1,2,3,4, Stephanie M Gogarten1,3, Caitlin P McHugh1, Adrienne M Stilp1, Tamar Sofer5,6, Michael L Bowers1, Quenna Wong1, L Adrienne Cupples7,8, Bertha Hidalgo9, Andrew D Johnson10,11, Merry-Lynn N McDonald12,13, Stephen T McGarvey14,15, Matthew R G Taylor16, Stephanie M Fullerton17, Matthew P Conomos1, Sarah C Nelson1,2.   

Abstract

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.

Entities:  

Year:  2022        PMID: 36119389      PMCID: PMC9481067          DOI: 10.1016/j.xgen.2022.100155

Source DB:  PubMed          Journal:  Cell Genom        ISSN: 2666-979X


  70 in total

Review 1.  Embodying inequality: a review of concepts, measures, and methods for studying health consequences of discrimination.

Authors:  N Krieger
Journal:  Int J Health Serv       Date:  1999       Impact factor: 1.663

2.  Controlling disease and creating disparities: a fundamental cause perspective.

Authors:  Jo C Phelan; Bruce G Link
Journal:  J Gerontol B Psychol Sci Soc Sci       Date:  2005-10       Impact factor: 4.077

3.  ASHG Denounces Attempts to Link Genetics and Racial Supremacy.

Authors: 
Journal:  Am J Hum Genet       Date:  2018-10-19       Impact factor: 11.025

Review 4.  Precisely Where Are We Going? Charting the New Terrain of Precision Prevention.

Authors:  Karen M Meagher; Michelle L McGowan; Richard A Settersten; Jennifer R Fishman; Eric T Juengst
Journal:  Annu Rev Genomics Hum Genet       Date:  2017-04-24       Impact factor: 8.929

5.  Genomics, Health Disparities, and Missed Opportunities for the Nation's Research Agenda.

Authors:  Kathleen McGlone West; Erika Blacksher; Wylie Burke
Journal:  JAMA       Date:  2017-05-09       Impact factor: 56.272

Review 6.  Population Stratification in Genetic Association Studies.

Authors:  Jacklyn N Hellwege; Jacob M Keaton; Ayush Giri; Xiaoyi Gao; Digna R Velez Edwards; Todd L Edwards
Journal:  Curr Protoc Hum Genet       Date:  2017-10-18

7.  Improving polygenic prediction in ancestrally diverse populations.

Authors:  Yunfeng Ruan; Yen-Feng Lin; Yen-Chen Anne Feng; Chia-Yen Chen; Max Lam; Zhenglin Guo; Lin He; Akira Sawa; Alicia R Martin; Shengying Qin; Hailiang Huang; Tian Ge
Journal:  Nat Genet       Date:  2022-05-05       Impact factor: 41.307

Review 8.  Population structure in genetic studies: Confounding factors and mixed models.

Authors:  Jae Hoon Sul; Lana S Martin; Eleazar Eskin
Journal:  PLoS Genet       Date:  2018-12-27       Impact factor: 5.917

9.  Leveraging fine-mapping and multipopulation training data to improve cross-population polygenic risk scores.

Authors:  Omer Weissbrod; Masahiro Kanai; Huwenbo Shi; Steven Gazal; Wouter J Peyrot; Amit V Khera; Yukinori Okada; Alicia R Martin; Hilary K Finucane; Alkes L Price
Journal:  Nat Genet       Date:  2022-04-07       Impact factor: 41.307

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  1 in total

1.  Novel Insights into the Effects of Genetic Variants on Serum Urate Response to an Acute Fructose Challenge: A Pilot Study.

Authors:  Xinruo Zhang; Baba B Mass; Valentina Talevi; Ruixue Hou; Kari E North; Venkata Saroja Voruganti
Journal:  Nutrients       Date:  2022-09-28       Impact factor: 6.706

  1 in total

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