Abstract
Advances in precision medicine depend on the quantity and quality of available genomic information. Various articles alert about the current disparities between the world’s regions regarding the amount of genomic information available and the negative impact this will have on global health. The objective of this paper is to review these articles to describe what aspects they emphasize and highlight some issues that remain to be analyzed from the perspective of a “peripheral” country. Most of these articles come from central countries, where the need for more diversity in genomics is already detected. Several authors analyze lack of human diversity with focus on national, while others analyze the problem from a global perspective. Depending on the country of origin of the research, the claim for greater diversity has different meanings. Broadly, high-income countries advocate for better coverage looking within the boundaries of their own countries. In other regions of the world, where this field of research has not yet been massively developed, the same need for greater inclusiveness of origins in population genomics studies is not detected. An under-analyzed aspect is the unequal starting point between regions regarding the economic resources available for the development of this field of medicine, and for science and health in general. Although this macroeconomic and social aspect is usually absent in scientific analyses, without it solved, it will be impossible to guarantee that all world populations are equally represented in the panels or genomic databases that serve as input for precision medicine development.
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References
Adhikari K, Reales G, Smith AJP, Konka E, Palmen J, Quinto-Sanchez M, … Ruiz-Linares A (2015) A genome-wide association study identifies multiple loci for variation in human ear morphology. Nat Commun 6(1). https://doi.org/10.1038/ncomms8500
Adhikari K, Fuentes-Guajardo M, Quinto-Sánchez M, Mendoza-Revill, J, Camilo Chacón-Duque J, Acuña-Alonzo V, … Ruiz-Linares A (2016) A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation. Nat Commun 7:11616. https://doi.org/10.1038/ncomms11616
Argüelles JM, Fuentes A, Yáñez B (2022) Analyzing asymmetries and praxis in aDNA research: a bioanthropological critique. Am Anthropol 124:130–140. https://doi.org/10.1111/aman.13692
Bentley AR, Callier S, Rotimi CN (2017) Diversity and inclusion in genomic research: why the uneven progress? J Commun Genet 8(4):255–266. https://doi.org/10.1007/s12687-017-0316-6
Bien SA, Wojcik GL, Hodonsky CJ, Gignoux CR, Cheng I, Matise TC, Peters U, Kenny EE, North KE (2019) The future of genomic studies must be globally representative: perspectives from PAGE. Annu Rev Genom Hum Genet 20:181–200. https://doi.org/10.1146/annurev-genom-091416-035517
Bustamante C, De La Vega F, Burchard E (2011) Genomics for the world. Nature 475:163–165. https://doi.org/10.1038/475163a
Bycroft C, Freeman C, Petkova D et al (2018) The UK Biobank resource with deep phenotyping and genomic data. Nature 562:203–209. https://doi.org/10.1038/s41586-018-0579-z
Callaway E (2023) ‘Truly gobsmacked’: ancient-human genome count surpasses 10,000. Nature. https://doi.org/10.1038/d41586-023-01403-4
Campbell MC, Tishkoff SA (2008) African genetic diversity: implications for human demographic history, modern human origins, and complex disease mapping. Annu Rev Genom Hum Genet 9:403–433. https://doi.org/10.1146/annurev.genom.9.081307.164258
Chen H, Pang T (2015) A call for global governance of biobanks. Bull World Health Organ 93(2):113–117. https://doi.org/10.2471/BLT.14.138420
Crellin R, Harris O (2020) Beyond binaries. Interrogating Anc DNA Archaeol Dialogues 27(1):37–56. https://doi.org/10.1017/S1380203820000082
Dopazo et al. (2019) Genomes, diseases and precision medicine: a national project. Ciencia, Tecnol Política. https://doi.org/10.24215/26183188e019
Feng YA et al (2022) Taiwan Biobank: a rich biomedical research database of the Taiwanese population. Cell Genom. https://doi.org/10.1016/j.xgen.2022.100197
Foucault M (2004) The crisis of medicine or the crisis of antimedicine? Foucault Stud (1):5–19. https://doi.org/10.22439/fs.v0i1.562
Fuentes A (2020) Biological anthropology’s critical engagement with genomics, evolution, race/racism, and ourselves: opportunities and challenges to making a difference in the academy and the world. Am J Phys Anthropol 175:326–338. https://doi.org/10.1002/ajpa.24162
Gravel S, Henn BM, Gutenkunst R, Indap A, Marth GT (2011) Demographic history and rare allele sharing among human populations. Proc Natl Acad. https://doi.org/10.1073/pnas.1019276108
Hollenbach JA, Saperstein A, Albrecht M, Vierra-Green C, Parham P, Norman PJ, Maiers M (2015) Race, ethnicity and ancestry in unrelated transplant matching for the National Marrow Donor Program: a comparison of multiple forms of self-identification with genetics. PLOS ONE 10(8):e0135960. https://doi.org/10.1371/journal.pone.0135960
Int HapMap Consort (2003) The International HapMap Project. Nature 426:789–796
Landry LG, Rehm HL (2018) Association of racial/ethnic categories with the ability of genetic tests to detect a cause of cardiomyopathy. JAMA Cardiol 3(4):341–345. https://doi.org/10.1001/jamacardio.2017.5333
Landry LG, Ali N, Williams DR, Rehm HL, Bonham VL (2018) Lack of diversity in genomic databases is a barrier to translating precision medicine research into practice. Health Aff (Millwood) 37(5):780–785. https://doi.org/10.1377/hlthaff.2017.1595
Li Q et al (2023) Automatic landmarking identifies new loci associated with face morphology and implicates Neanderthal introgression in human nasal shape. Commun Biol 6:481. https://doi.org/10.1038/s42003-023-04838-7
López-Rodríguez G, Estrada-Neria A, Suárez-Diéguez T, Tejero ME, Fernández JC, Galván M (2020) Common polymorphisms in MC4R and FTO genes are associated with BMI and metabolic indicators in Mexican children: differences by sex and genetic ancestry. Gene. https://doi.org/10.1016/j.gene.2020.144840
Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA et al (2009) Finding the missing heritability of complex diseases. Nature 461:747–753
Nagai A et al (2017) Overview of the BioBank Japan Project: study design and profile. J Epidemiol. https://doi.org/10.1016/j.je.2016.12.005
Need AC, Goldstein DB (2009) Next generation disparities in human genomics: concerns and remedies. Trends Genet 25(11):489–494. https://doi.org/10.1016/j.tig.2009.09.012
Oh SS, White MJ, Gignoux CR, Burchard EG (2016) Making precision medicine socially precise. Take a deep breath. Am J Respir Crit Care Med. 193(4):348–50. https://doi.org/10.1164/rccm.201510-2045ED
Patrinos et al (2020) Roadmap for establishing large-scale genomic medicine initiatives in low- and middle-income countries. AJHG. https://doi.org/10.1016/j.ajhg.2020.08.005
Petrovski S, Goldstein DB (2016) Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine. Genome Biol 17:157. https://doi.org/10.1186/s13059-016-1016-y
Pitt JJ, Riester M, Zheng Y et al (2018) Characterization of Nigerian breast cancer reveals prevalent homologous recombination deficiency and aggressive molecular features. Nat Commun 9:4181. https://doi.org/10.1038/s41467-018-06616-0
Popejoy AB, Fullerton SM (2016) Genomics is failing on diversity. Nature 538(7624):161–164. https://doi.org/10.1038/538161a
Ramaswami R, Bayer R, Galea S (2018) Precision medicine from a public health perspective. Annu Rev Public Health 39:153–168. https://doi.org/10.1146/annurev-publhealth-040617-014158
Ruiz-Linares A, Adhikari K, Acuña-Alonzo V, Quinto-Sanchez M, Jaramillo C, Arias W, Fuentes M, Pizarro M, Everardo P, de Avila F, Gómez-Valdés J, León-Mimila P, Hunemeier T, Ramallo V, Silva de Cerqueira CC, Burley MW, Konca E, de Oliveira MZ, Veronez MR, Rubio-Codina M, Attanasio O, Gibbon S, Ray N, Gallo C, Poletti G, Rosique J, Schuler-Faccini L, Salzano FM, Bortolini MC, Canizales-Quinteros S, Rothhammer F, Bedoya G, Balding D, Gonzalez-José R (2014) Admixture in Latin America: geographic structure, phenotypic diversity and self-perception of ancestry based on 7,342 individuals. PLoS Genet 10(9):e1004572. https://doi.org/10.1371/journal.pgen.1004572
Sohail M, et al. (2022) Nationwide genomic biobank in Mexico unravels demographic history and complex trait architecture from 6,057 individuals. bioRxiv. https://doi.org/10.1101/2022.07.11.499652
Spratt DE, Chan T, Waldron L, Speers C, Feng FY, Ogunwobi OO et al (2016) Racial/ethnic disparities in genomic sequencing. JAMA Oncol 2(8):1070–1074
Thobela M, Maseme M, Duma B (2022) An overview of the National Biobank of the National Health Laboratory Service: a South African national treasure for biological resources. Journal of Laboratory Medicine 46(2):83–97. https://doi.org/10.1515/labmed-2021-010
United Nations Educational, Scientific and Cultural Organization (UNESCO) (2003) International declaration on human genetic data. Available in: https://en.unesco.org/about-us/legal-affairs/international-declaration-human-genetic-data
Villalobos-Comparán M, Teresa Flores-Dorantes M, Teresa Villarreal-Molina M, Rodríguez-Cruz M, García-Ulloa AC, … & Canizales-Quinteros S (2008) The FTO gene is associated with adulthood obesity in the Mexican population. Obesity, 16(10):2296–301. https://doi.org/10.1038/oby.2008.367
Yáñez B, Fuentes A, Silva CP, Figueiro G, Menéndez LP, García-Deister V, de la Fuente-Castro C, González-Duarte C, Tamburrini C, Argüelles JM (2022) Pace and space in the practice of aDNA research: concerns from the periphery. Am J Biol Anthropol 180(3):417–422. https://doi.org/10.1002/ajpa.24683
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Ruderman, A. Population diversity and equity in the genomic era: going global to return to the local. J Community Genet 14, 519–525 (2023). https://doi.org/10.1007/s12687-023-00669-5
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DOI: https://doi.org/10.1007/s12687-023-00669-5