Genomic inequalities and precision medicine

Authors

DOI:

https://doi.org/10.63618/omd/ssjm/v3/n2/46

Keywords:

genomic inequalities, precision medicine, genetic diversity, health equity, epistemic justice

Abstract

The present study critically examines inequalities in population representation within genomic research and their impact on precision medicine. Through a systematic literature review of academic literature published between 2010 and 2024, major structural gaps that favor populations of European descent and exclude historically marginalized groups were identified. The results reveal significant biases in diagnoses, clinical predictions and therapeutic efficacy, especially affecting indigenous, Afro-descendant and Latin American communities. In addition, ethical and social consequences are evident that reinforce historical inequalities in access to biomedical knowledge and clinical benefits. The article concludes that precision medicine, far from democratizing health care, could deepen inequalities if it does not promote an effective inclusion of global genetic diversity. An ethical and structural reconfiguration of research models is proposed as a way towards real genomic justice.

Downloads

Download data is not yet available.

References

Benjamin, R. (2019). Race after technology: Abolitionist tools for the new Jim code. Polity Press.

Bentley, A. R., Callier, S. L., & 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

Boddington, P. (2020). Ethical Challenges in Genomic Medicine. The New Bioethics, 26(3), 181–194.

Carroll, S. R., Garba, I., Figueroa-Rodríguez, O. L., Holbrook, J., Lovett, R., Materechera, S., ... & Hudson, M. (2020). The CARE Principles for Indigenous Data Governance. Data Science Journal, 19(1), 43. https://doi.org/10.5334/dsj-2020-043

Cerrato, C., Garmendia, J. L., & López-Cortés, A. (2022). Underrepresentation of Latin American populations in genomic databases limits medicine's precision. Frontiers in Genetics, 13, 871722.

Fatumo, S., Chikowore, T., Choudhury, A. et al. A roadmap to increase diversity in genomic studies. Nat Med 28, 243–250 (2022). https://doi.org/10.1038/s41591-021-01672-4

Green, E. D., Gunter, C., Biesecker, L. G., Di Francesco, V., Easter, C. L., Feingold, E. A., ... & Guyer, M. S. (2020). Strategic vision for improving human health at The Forefront of Genomics. Nature, 586(7831), 683–692. https://doi.org/10.1038/s41586-020-2817-4

Herrera-Sánchez, P. J., & Mina-Villalta, G. Y. (2023). Riesgos de la mala higiene de los equipos quirúrgicos. Journal of Economic and Social Science Research, 3(1), 64–75. https://doi.org/10.55813/gaea/jessr/v3/n1/63

Hudson, M., Garrison, N.A., Sterling, R. et al. Rights, interests and expectations: Indigenous perspectives on unrestricted access to genomic data. Nat Rev Genet 21, 377–384 (2020). https://doi.org/10.1038/s41576-020-0228-x

Knerr, S., Way, G. P., He, M. M., Le, J. Q., Camp, N. J., & Goecks, J. (2023). Opportunities and challenges in achieving diversity in cancer genomic studies. Cancer Cell, 41(1), 3–6.

Limdi, N. A., & Veenstra, D. L. (2012). Warfarin pharmacogenetics. Pharmacotherapy, 28(9), 1084–1097. https://doi.org/10.1592/phco.28.9.1084

Loree, J. M., Anand, S., Dasari, A., Unger, J. M., Gothwal, A., Ellis, L. M., ... & Kopetz, S. (2019). Disparity of race reporting and representation in clinical trials leading to cancer drug approvals from 2008 to 2018. JAMA Oncology, 5(10), e191870. https://doi.org/10.1001/jamaoncol.2019.1870

Manrai, A. K., Funke, B. H., Rehm, H. L., Olesen, M. S., Maron, B. A., Szolovits, P., ... & Kohane, I. S. (2016). Genetic misdiagnoses and the potential for health disparities. New England Journal of Medicine, 375(7), 655–665. https://doi.org/10.1056/NEJMsa1507092

Martin, A. R., Kanai, M., Kamatani, Y., Okada, Y., Neale, B. M., & Daly, M. J. (2019). Clinical use of current polygenic risk scores may exacerbate health disparities. Nature Genetics, 51(4), 584–591. https://doi.org/10.1038/s41588-019-0379-x

Mulder, N., Adebiyi, E., Adebiyi, M., Adeyemo, A., Ahmed, A. E., Ahmed, R., ... & Tiffin, N. (2018). Development of bioinformatics infrastructure for genomics research. Global Heart, 13(4), 347–352.

Nieto-Chávez, M.-E., & Guevara-Villacís, M. V. (2024). Impacto de la actividad física excesiva en el desarrollo de trastornos de conducta alimentaria. Journal of Economic and Social Science Research, 4(4), 237–257. https://doi.org/10.55813/gaea/jessr/v4/n4/144

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

Salazar-Villegas, B., Lopez-Mallama, O. M., & Mantilla-Mejía, H. (2023). Historia de la Salud en Colombia: del Periodo Precolombino a el Periodo Higienista 1953. Journal of Economic and Social Science Research, 3(3), 1–12. https://doi.org/10.55813/gaea/jessr/v3/n3/69

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

Published

2025-04-30

How to Cite

Herrera-Sánchez, P. J., López -Cudco, L. L., & Mina-Villalta, G. Y. (2025). Genomic inequalities and precision medicine. Space Scientific Journal of Multidisciplinary, 3(2), 1-13. https://doi.org/10.63618/omd/ssjm/v3/n2/46

Similar Articles

1-10 of 37

You may also start an advanced similarity search for this article.