The Importance of Genomics Diversity in Research

Authors

  • Sachi Badola Chelmsford High School
  • Bethany Zettler Genomes2People

DOI:

https://doi.org/10.47611/jsrhs.v11i1.2334

Keywords:

Genomics, Healthy Equity, Diversity in Research, Precision Medicine

Abstract

Purpose: Genomic diversity is important in medical research and precision medicine, as appropriate disease management and drug development heavily utilizes genomic data. This article sought out to present a narrative review of limitations of genomic medicine utilization in historically underrepresented populations.

Method: A literature review was conducted, and relevant publications written on the lack of genomic diversity in research and medicine were chosen from PubMed. Additionally, the ClinVar, ExAc, and gnomAD databases were used to review variants that were reported as pathogenic or non-pathogenic in different ethnicities, with ethnicity dependent minor allele frequencies. A total of twenty-five publications were used and examined to identify common themes.

Results: Twenty-seven publications were chosen to be a part of this review, and based on the content of the publications, three different categories of genomics utilization with a problematic lack of diversity were developed: “Genes and Disease Correlation”, “Disease Management”, and “Drug Development”. The literature review also identified possible solutions and interventions for researchers and physicians to increase genomic diversity in order to ensure that the future of precision medicine is equitable for all populations. 

Conclusion: The results of this paper highlight that there are currently significant limitations to genomic medicine for underrepresented populations. By engaging, educating, and building trust with underrepresented communities, precision medicine can overcome the current lack of genomic diversity. This review recognizes the need for large multi-ethnic population studies, community representation in research, and understanding the interplay of genes, lifestyle, and environment for minorities.

Downloads

Download data is not yet available.

Author Biography

Bethany Zettler, Genomes2People

Advisor

References or Bibliography

Bentley, A. R., Callier, S., & Rotimi, C. N. (2017). Diversity and inclusion in genomic research: why the uneven progress?. Journal of community genetics, 8(4), 255–266. https://doi.org/10.1007/s12687-017-0316-6

Clark, L. T., Watkins, L., Piña, I. L., Elmer, M., Akinboboye, O., Gorham, M., Jamerson, B., McCullough, C., Pierre, C., Polis, A. B., Puckrein, G., & Regnante, J. M. (2019). Increasing Diversity in Clinical Trials: Overcoming Critical Barriers. Current problems in cardiology, 44(5), 148–172. https://doi.org/10.1016/j.cpcardiol.2018.11.002

Clyde, Dorothy. “Making the case for more inclusive GWAS.” Nature reviews. Genetics vol. 20,9 (2019): 500-501. doi:10.1038/s41576-019-0160-0

Cooke Bailey, J. N., Bush, W. S., & Crawford, D. C. (2020). Editorial: The Importance of Diversity in Precision Medicine Research. Frontiers in genetics, 11, 875. https://doi.org/10.3389/fgene.2020.00875

Duncan, L., Shen, H., Gelaye, B. et al. Analysis of polygenic risk score usage and performance in diverse human populations. Nat Commun 10, 3328 (2019). https://doi.org/10.1038/s41467-019-11112-0

Gurdasani, Deepti et al. “Genomics of disease risk in globally diverse populations.” Nature reviews. Genetics vol. 20,9 (2019): 520-535. doi:10.1038/s41576-019-0144-0

Hindorff, Lucia A et al. “Prioritizing diversity in human genomics research.” Nature reviews. Genetics vol. 19,3 (2018): 175-185. doi:10.1038/nrg.2017.89

Luther T. Clark, Laurence Watkins, Ileana L. Piña, Mary Elmer, Ola Akinboboye, Millicent Gorham, Brenda Jamerson, Cassandra McCullough, Christine Pierre, Adam B. Polis, Gary Puckrein, Jeanne M. Regnante, Increasing Diversity in Clinical Trials: Overcoming Critical Barriers, Current Problems in Cardiology,Volume 44, Issue 5,2019,Pages 148-172, ISSN 0146-2806,https://doi.org/10.1016/j.cpcardiol.2018.11.002.

Mak, Angel C Y et al. “Whole-Genome Sequencing of Pharmacogenetic Drug Response in Racially Diverse Children with Asthma.” American journal of respiratory and critical care medicine vol. 197,12 (2018): 1552-1564. doi:10.1164/rccm.201712-2529OC

Mallick, Swapan et al. “The Simons Genome Diversity Project: 300 genomes from 142 diverse populations.” Nature vol. 538,7624 (2016): 201-206. doi:10.1038/nature18964

McGuire, Amy L et al. “The road ahead in genetics and genomics.” Nature reviews. Genetics vol. 21,10 (2020): 581-596. doi:10.1038/s41576-020-0272-6

Popejoy, Alice B et al. “The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomics.” Human mutation vol. 39,11 (2018): 1713-1720. doi:10.1002/humu.23644

Popejoy, A. B., & Fullerton, S. M. (2016). Genomics is failing on diversity. Nature, 538(7624), 161–164. https://doi.org/10.1038/538161a

Riggs, Erin R et al. “Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar.” Human mutation vol. 39,11 (2018): 1650-1659. doi:10.1002/humu.23610

Schärfe, C.P.I., Tremmel, R., Schwab, M. et al. Genetic variation in human drug-related genes. Genome Med 9, 117 (2017). https://doi.org/10.1186/s13073-017-0502-5

Sirugo, G., Williams, S. M., & Tishkoff, S. A. (2019). The Missing Diversity in Human Genetic Studies. Cell, 177(1), 26–31. https://doi.org/10.1016/j.cell.2019.02.048

Strande, Natasha T et al. “Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.” American journal of human genetics vol. 100,6 (2017): 895-906. doi:10.1016/j.ajhg.2017.04.015

Strande, Natasha T et al. “Navigating the nuances of clinical sequence variant interpretation in Mendelian disease.” Genetics in medicine : official journal of the American College of Medical Genetics vol. 20,9 (2018): 918-926. doi:10.1038/s41436-018-0100-y

Slunecka, J. L., van der Zee, M. D., Beck, J. J., Johnson, B. N., Finnicum, C. T., Pool, R., Hottenga, J. J., de Geus, E., & Ehli, E. A. (2021). Implementation and implications for polygenic risk scores in healthcare. Human genomics, 15(1), 46. https://doi.org/10.1186/s40246-021-00339-y

Spreafico, R., Soriaga, L. B., Grosse, J., Virgin, H. W., & Telenti, A. (2020). Advances in Genomics for Drug Development. Genes, 11(8), 942. doi:10.3390/genes11080942

Visscher, Peter M et al. “10 Years of GWAS Discovery: Biology, Function, and Translation.” American journal of human genetics vol. 101,1 (2017): 5-22. doi:10.1016/j.ajhg.2017.06.005

Williams, David R, and Lisa A Cooper. “Reducing Racial Inequities in Health: Using What We Already Know to Take Action.” International journal of environmental research and public health vol. 16,4 606. 19 Feb. 2019, doi:10.3390/ijerph16040606

Wojcik, Genevieve L et al. “Genetic analyses of diverse populations improves discovery for complex traits.” Nature vol. 570,7762 (2019): 514-518. doi:10.1038/s41586-019-1310-4

Wright, Caroline F., et al. "Genomic Variant Sharing: A Position Statement."Wellcome Open Research, vol. 4, 4 Dec. 2019, p. 22, doi:10.12688 wellcomeopenres.15090.2.

Genomes Project Consortium, Auton, A., Brooks, L. D., Durbin, R. M., Garrison, E. P., Kang, H. M., Korbel, J. O., Marchini, J. L., McCarthy, S., McVean, G. A., & Abecasis, G. R. (2015). A global reference for human genetic variation. Nature, 526(7571), 68–74. https://doi.org/10.1038/nature15393

Published

02-28-2022

How to Cite

Badola, S., & Zettler, B. (2022). The Importance of Genomics Diversity in Research. Journal of Student Research, 11(1). https://doi.org/10.47611/jsrhs.v11i1.2334

Issue

Section

HS Review Articles