The Importance of Genomics Diversity in Research
DOI:
https://doi.org/10.47611/jsrhs.v11i1.2334Keywords:
Genomics, Healthy Equity, Diversity in Research, Precision MedicineAbstract
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.
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