[go: up one dir, main page]
More Web Proxy on the site http://driver.im/
Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Review Article
  • Published:

Breaking research silos to achieve equitable precision medicine in rheumatology

Abstract

Health disparities in rheumatic disease are well established and urgently need addressing. Obstacles to precision medicine equity span both the clinical and the research domains, with a focus placed on structural barriers limiting equitable health care access and inclusivity in research. Less articulated factors include the use of inaccurate population descriptors and the existence of research silos in rheumatology research, which creates a knowledge gap that precludes addressing the health disparities and fulfilling the goals of precision medicine to understand the ‘full patient’. The biopsychosocial model is a research framework that intertwines layers of biological and environmental effects to understand disease. However, very limited rheumatology research bridges across molecular and epidemiological studies of environmental exposures, such as physical and social determinants of health. In this Review, we discuss clinical obstacles to health care equity, including access to health care and the use of inaccurate language when labelling population groups. We explore the goals and data needed for research under the biopsychosocial model. We describe results from a rheumatic disease literature search that highlights the paucity of studies investigating the molecular influences of systemic exposures. We conclude with a list of considerations and recommendations to help achieve equitable precision medicine.

Key points

  • Health disparities in rheumatic disease are well established and need addressing urgently.

  • Currently, epidemiological and biological research exists in silos, which hampers our ability to elucidate the interplay and underlying molecular mechanisms by which environmental exposures yield biological changes.

  • Poor diversity and inclusivity in research datasets, individual and structural barriers in access to research and care, inaccurate use of population descriptors, and research siloing limit equal and equitable precision medicine and health.

  • Embracing ecological frameworks such as the biopsychosocial model will enable research that better accounts for the multi-faceted factors contributing to rheumatic disease prevalence and progression.

  • The continued development of omics technologies and emerging large population-based registries offer great opportunities for identifying and alleviating health disparities.

This is a preview of subscription content, access via your institution

Access options

Buy this article

Prices may be subject to local taxes which are calculated during checkout

Fig. 1: The biopsychosocial model and domains of environmental determinants of health.
Fig. 2: Siloing of research in rheumatic diseases.

Similar content being viewed by others

References

  1. National Human Genome Research Institute. Precision Medicine. https://www.genome.gov/genetics-glossary/Precision-Medicine (2024).

  2. Costa, A. et al. From “Inclusion in What” to “Equity in What”: (Re)thinking the question of in/equity in precision medicine and health. Am. J. Bioeth. 24, 89–91 (2024).

    Article  PubMed  Google Scholar 

  3. CDC. Health Equity. https://www.cdc.gov/healthequity/whatis/index.html (2024).

  4. Khoury, M. J. et al. Health equity in the implementation of genomics and precision medicine: a public health imperative. Genet. Med. 24, 1630–1639 (2022).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  5. Allen, C. G. et al. Extending an antiracism lens to the implementation of precision public health interventions. Am. J. Public. Health 113, 1210–1218 (2023).

    Article  PubMed  PubMed Central  Google Scholar 

  6. Matthew, D. B. Two threats to precision medicine equity. Ethn. Dis. 29, 629–640 (2019).

    Article  PubMed  PubMed Central  Google Scholar 

  7. Odutola, J. & Ward, M. M. Ethnic and socioeconomic disparities in health among patients with rheumatic disease. Curr. Opin. Rheumatol. 17, 147–152 (2005).

    Article  PubMed  Google Scholar 

  8. Khoury, M. J., Iademarco, M. F. & Riley, W. T. Precision public health for the era of precision medicine. Am. J. Prev. Med. 50, 398–401 (2016).

    Article  PubMed  Google Scholar 

  9. Cohn, E. G., Henderson, G. E. & Appelbaum, P. S. Distributive justice, diversity, and inclusion in precision medicine: what will success look like? Genet. Med. 19, 157–159 (2017).

    Article  PubMed  Google Scholar 

  10. Sabatello, M. Precision medicine, health disparities, and ethics: the case for disability inclusion. Genet. Med. 20, 397–399 (2018).

    Article  PubMed  Google Scholar 

  11. Cho, M. K. et al. Words matter: the language of difference in human genetics. Genet. Med. 25, 100343 (2023).

    Article  CAS  PubMed  Google Scholar 

  12. Lopez, K. N. & Fuentes-Afflick, E. Engaging pediatric subspecialists in pursuit of health equity-breaking out of the silo. JAMA Pediatr. 176, 841–842 (2022).

    Article  PubMed  Google Scholar 

  13. Richardson, A., Darst, B., Wojcik, G., Wagle, N. & Haricharan, S. Research silos in cancer disparities: obstacles to improving clinical outcomes for underserved patient populations. Clin. Cancer Res. 29, 1194–1199 (2023).

    Article  PubMed  PubMed Central  Google Scholar 

  14. Pryor, K. P., Barbhaiya, M., Costenbader, K. H. & Feldman, C. H. Disparities in lupus and lupus nephritis care and outcomes among US Medicaid beneficiaries. Rheum. Dis. Clin. North. Am. 47, 41–53 (2021).

    Article  PubMed  Google Scholar 

  15. Gillis, J. Z. et al. Medicaid and access to care among persons with systemic lupus erythematosus. Arthritis Rheum. 57, 601–607 (2007).

    Article  PubMed  PubMed Central  Google Scholar 

  16. Widdifield, J. et al. Access to rheumatologists among patients with newly diagnosed rheumatoid arthritis in a Canadian universal public healthcare system. BMJ Open. 4, e003888 (2014).

    Article  PubMed  PubMed Central  Google Scholar 

  17. Barnabe, C. Disparities in rheumatoid arthritis care and health service solutions to Equity. Rheum. Dis. Clin. North. Am. 46, 685–692 (2020).

    Article  PubMed  Google Scholar 

  18. Green, S., Prainsack, B. & Sabatello, M. The roots of (in)equity in precision medicine: gaps in the discourse. Per. Med. 21, 5–9 (2024).

    Article  CAS  PubMed  Google Scholar 

  19. Green, S., Prainsack, B. & Sabatello, M. Precision medicine and the problem of structural injustice. Med. Health Care Philos. 26, 433–450 (2023).

    Article  PubMed  PubMed Central  Google Scholar 

  20. Tabery, J. Tyranny of the Gene. Personalized Medicine and its Tread to Public Health. (Penguin Random House, 2023).

  21. Ory, M. G., Adepoju, O. E., Ramos, K. S., Silva, P. S. & Vollmer Dahlke, D. Health equity innovation in precision medicine: current challenges and future directions. Front. Public. Health 11, 1119736 (2023).

    Article  PubMed  PubMed Central  Google Scholar 

  22. Ramos, P. S. & Lim, S. S. Clarity for the language of race, ethnicity and genetic ancestry in rheumatology. Nat. Rev. Rheumatol. 384, 474–454 (2024).

    Google Scholar 

  23. Borrell, L. N. et al. Race and genetic ancestry in medicine — a time for reckoning with racism. N. Engl. J. Med. 384, 474–480 (2021).

    Article  PubMed  PubMed Central  Google Scholar 

  24. Gordon, N. P., Lin, T. Y., Rau, J. & Lo, J. C. Aggregation of Asian-American subgroups masks meaningful differences in health and health risks among Asian ethnicities: an electronic health record based cohort study. BMC Public. Health 19, 1551 (2019).

    Article  PubMed  PubMed Central  Google Scholar 

  25. Hudson, D. L. et al. Are benefits conferred with greater socioeconomic position undermined by racial discrimination among African American men? J. Mens Health 9, 127–136 (2012).

    Article  PubMed  PubMed Central  Google Scholar 

  26. Colen, C. G., Ramey, D. M., Cooksey, E. C. & Williams, D. R. Racial disparities in health among nonpoor African Americans and Hispanics: the role of acute and chronic discrimination. Soc. Sci. Med. 199, 167–180 (2018).

    Article  PubMed  Google Scholar 

  27. Williams, D. R., Mohammed, S. A., Leavell, J. & Collins, C. Race, socioeconomic status, and health: complexities, ongoing challenges, and research opportunities. Ann. NY Acad. Sci. 1186, 69–101 (2010).

    Article  PubMed  Google Scholar 

  28. National Academies of Sciences, Engineering & Medicine. Using Population Descriptors in Genetics and Genomics Research: A New Framework for an Evolving Field. (The National Academies Press, 2023).

  29. Roth, W. D. The multiple dimensions of race. Ethn. Racial Stud. 39, 1310–1338 (2016).

    Article  Google Scholar 

  30. Chae, D. H., Nuru-Jeter, A. M., Lincoln, K. D. & Francis, D. D. Conceptualizing racial disparities in health: advancement of a socio-psychobiological approach. Du Bois Rev. 8, 63–77 (2011).

    Article  Google Scholar 

  31. Feero, W. G. et al. Guidance on use of race, ethnicity, and geographic origin as proxies for genetic ancestry groups in biomedical publications. JAMA 331, 1276–1278 (2024).

    Article  PubMed  Google Scholar 

  32. Engel, G. L. The need for a new medical model: a challenge for biomedicine. Science 196, 129–136 (1977).

    Article  CAS  PubMed  Google Scholar 

  33. Clark, R., Anderson, N. B., Clark, V. R. & Williams, D. R. Racism as a stressor for African Americans. A biopsychosocial model. Am. Psychol. 54, 805–816 (1999).

    Article  CAS  PubMed  Google Scholar 

  34. Gee, G. C. & Payne-Sturges, D. C. Environmental health disparities: a framework integrating psychosocial and environmental concepts. Env. Health Perspect. 112, 1645–1653 (2004).

    Article  Google Scholar 

  35. Harrell, C. J. et al. Multiple pathways linking racism to health outcomes. Du Bois Rev. 8, 143–157 (2011).

    Article  PubMed  PubMed Central  Google Scholar 

  36. Martenies, S. E., Milando, C. W., Williams, G. O. & Batterman, S. A. Disease and health inequalities attributable to air pollutant exposure in Detroit, Michigan. Int. J. Environ. Res. Public Health 14, 1243 (2017).

  37. Chambliss, S. E. et al. Local- and regional-scale racial and ethnic disparities in air pollution determined by long-term mobile monitoring. Proc. Natl Acad. Sci. USA 118, e2109249118 (2021).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  38. Jbaily, A. et al. Air pollution exposure disparities across US population and income groups. Nature 601, 228–233 (2022).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  39. Braveman, P. Health disparities and health equity: concepts and measurement. Annu. Rev. Public. Health 27, 167–194 (2006).

    Article  PubMed  Google Scholar 

  40. World Health Organization. Social determinants of health. https://www.who.int/health-topics/social-determinants-of-health (2024).

  41. Schuurman, N., Bell, N., Dunn, J. R. & Oliver, L. Deprivation indices, population health and geography: an evaluation of the spatial effectiveness of indices at multiple scales. J. Urban. Health.: Bull. NY Acad. Med. 84, 591–603 (2007).

    Article  Google Scholar 

  42. Penman-Aguilar, A. et al. Measurement of health disparities, health inequities, and social determinants of health to support the advancement of health equity. J. Public Health Manag. Pract. 22, S33–S42 (2016).

    Article  PubMed  PubMed Central  Google Scholar 

  43. Andersson, M. A. An odd ladder to climb: socioeconomic differences across levels of subjective social status. Soc. Indic. Res. 136, 621–643 (2018).

    Article  Google Scholar 

  44. Kolak, M., Bhatt, J., Park, Y. H., Padron, N. A. & Molefe, A. Quantification of neighborhood-level social determinants of health in the continental United States. JAMA Netw. Open. 3, e1919928 (2020).

    Article  PubMed  PubMed Central  Google Scholar 

  45. Deas, I., Robson, B., Wong, C. & Bradford, M. Measuring neighbourhood deprivation: a critique of the index of multiple deprivation. Environ. Plan. C: Gov. Policy 21, 883–903 (2003).

    Article  Google Scholar 

  46. Ramos, P. S. Integrating genetic and social factors to understand health disparities in lupus. Curr. Opin. Rheumatol. 33, 598–604 (2021).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  47. Buie, J. et al. Disparities in lupus and the role of social determinants of health: current state of knowledge and directions for future research. ACR Open. Rheumatol. 5, 454–464 (2023).

    Article  PubMed  PubMed Central  Google Scholar 

  48. Romao, V. C. & Fonseca, J. E. Etiology and risk factors for rheumatoid arthritis: a state-of-the-art review. Front. Med. 8, 689698 (2021).

    Article  Google Scholar 

  49. Conrad, N. et al. Incidence, prevalence, and co-occurrence of autoimmune disorders over time and by age, sex, and socioeconomic status: a population-based cohort study of 22 million individuals in the UK. Lancet 401, 1878–1890 (2023).

    Article  PubMed  Google Scholar 

  50. Callahan, L. F., Cleveland, R. J., Allen, K. D. & Golightly, Y. Racial/ethnic, socioeconomic, and geographic disparities in the epidemiology of knee and hip osteoarthritis. Rheum. Dis. Clin. North. Am. 47, 1–20 (2021).

    Article  PubMed  Google Scholar 

  51. McCormick, N. et al. Racial and sex disparities in gout prevalence among US adults. JAMA Netw. Open. 5, e2226804 (2022).

    Article  PubMed  PubMed Central  Google Scholar 

  52. Moore, D. F. & Steen, V. D. Racial disparities in systemic sclerosis. Rheum. Dis. Clin. North. Am. 46, 705–712 (2020).

    Article  PubMed  Google Scholar 

  53. Sharp, M., Eakin, M. N. & Drent, M. Socioeconomic determinants and disparities in sarcoidosis. Curr. Opin. Pulm. Med. 26, 568–573 (2020).

    Article  PubMed  Google Scholar 

  54. Harper, L. J. et al. Income and other contributors to poor outcomes in U.S. patients with sarcoidosis. Am. J. Respir. Crit. Care Med. 201, 955–964 (2020).

    Article  PubMed  PubMed Central  Google Scholar 

  55. Chae, D. H. et al. Racial discrimination, disease activity, and organ damage: the Black Women’s Experiences Living with Lupus (BeWELL) study. Am. J. Epidemiol. 188, 1434–1443 (2019).

    PubMed  PubMed Central  Google Scholar 

  56. Li, X., Sundquist, J., Hamano, T. & Sundquist, K. Neighborhood deprivation and risks of autoimmune disorders: a national cohort study in Sweden. Int. J. Environ. Res. Public Health 16, 3798 (2019).

  57. Lucasson, F. et al. Disparities in healthcare in psoriatic arthritis: an analysis of 439 patients from 13 countries. RMD Open 8, e002031 (2022).

  58. Zimmerman, M. A. et al. Adolescent resilience: promotive factors that inform prevention. Child. Dev. Perspect. 7, 215–220 (2013).

  59. Williams, E. M. et al. Cytokine balance and behavioral intervention; findings from the Peer Approaches to Lupus Self-Management (PALS) project. Hum. Immunol. 78, 574–581 (2017).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  60. Williams, E. M. et al. Peer-to-peer mentoring for African American women with lupus: a feasibility pilot. Arthritis Care Res. 70, 908–917 (2018).

    Article  Google Scholar 

  61. Flournoy-Floyd, M. et al. We Would Still Find Things to Talk About”: assessment of mentor perspectives in a systemic lupus erythematosus intervention to improve disease self-management, empowering SLE patients. J. Natl Med. Assoc. 110, 182–189 (2018).

    PubMed  Google Scholar 

  62. Jordan, J., Thompson, N. J., Dunlop-Thomas, C., Lim, S. S. & Drenkard, C. Relationships among organ damage, social support, and depression in African American women with systemic lupus erythematosus. Lupus 28, 253–260 (2019).

    Article  CAS  PubMed  Google Scholar 

  63. Pitsilka, D. A., Kafetsios, K. & Niakas, D. Social support and quality of life in patients with rheumatoid arthritis in Greece. Clin. Exp. Rheumatol. 33, 27–33 (2015).

    PubMed  Google Scholar 

  64. Nebhinani, N., Mattoo, S. K. & Wanchu, A. Quality of life, social support, coping strategies, and psychiatric morbidity in patients with rheumatoid arthritis. J. Neurosci. Rural. Pract. 13, 119–122 (2022).

    Article  PubMed  PubMed Central  Google Scholar 

  65. Zyrianova, Y. et al. Depression and anxiety in rheumatoid arthritis: the role of perceived social support. Ir. J. Med. Sci. 175, 32–36 (2006).

    Article  CAS  PubMed  Google Scholar 

  66. Chen, Y. T. et al. Factors associated with life satisfaction in systemic sclerosis: examining the moderating roles of social support and spiritual well-being. J. Scleroderma Relat. Disord. 8, 107–112 (2023).

    Article  PubMed  PubMed Central  Google Scholar 

  67. DeQuattro, K. & Yelin, E. Socioeconomic status, health care, and outcomes in systemic lupus erythematosus. Rheum. Dis. Clin. North. Am. 46, 639–649 (2020).

    Article  PubMed  Google Scholar 

  68. Adami, G. et al. Environmental air pollution is a predictor of poor response to biological drugs in chronic inflammatory arthritides. ACR Open. Rheumatol. 3, 451–456 (2021).

    Article  PubMed  PubMed Central  Google Scholar 

  69. Adami, G. et al. Association between environmental air pollution and rheumatoid arthritis flares. Rheumatology 60, 4591–4597 (2021).

    Article  CAS  PubMed  Google Scholar 

  70. Wu, Q. et al. Association between traffic-related air pollution and hospital readmissions for rheumatoid arthritis in Hefei, China: a time-series study. Env. Pollut. 268, 115628 (2021).

    Article  CAS  Google Scholar 

  71. Lam, L. L. et al. Factors underlying variable DNA methylation in a human community cohort. Proc. Natl Acad. Sci. USA 109, 17253–17260 (2012).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  72. Borghol, N. et al. Associations with early-life socio-economic position in adult DNA methylation. Int. J. Epidemiol. 41, 62–74 (2012).

    Article  PubMed  Google Scholar 

  73. Vidal, A. C. et al. Maternal stress, preterm birth, and DNA methylation at imprint regulatory sequences in humans. Genet. Epigenet 6, 37–44 (2014).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  74. Vara, E. L. et al. Social Factors, Epigenomics and Lupus in African American Women (SELA) Study: protocol for an observational mechanistic study examining the interplay of multiple individual and social factors on lupus outcomes in a health disparity population. Lupus Sci. Med. 9, e000698 (2022).

    Article  PubMed  PubMed Central  Google Scholar 

  75. Vaskimo, L. M. et al. The application of genetic risk scores in rheumatic diseases: a perspective. Genes 14, 2167 (2023).

  76. Polygenic Risk Score Task Force of the International Common Disease Alliance. Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps. Nat. Med. 27, 1876–1884 (2021).

    Article  CAS  Google Scholar 

  77. Ramos, P. S. Population genetics and natural selection in rheumatic disease. Rheum. Dis. Clin. North. Am. 43, 313–326 (2017).

    Article  PubMed  PubMed Central  Google Scholar 

  78. Lanata, C. M., Blazer, A. & Criswell, L. A. The contribution of genetics and epigenetics to our understanding of health disparities in rheumatic diseases. Rheum. Dis. Clin. North. Am. 47, 65–81 (2021).

    Article  PubMed  Google Scholar 

  79. Sankar, P. et al. Genetic research and health disparities. JAMA 291, 2985–2989 (2004).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  80. 1000 Genomes Project Consortium et al. A global reference for human genetic variation. Nature 526, 68–74 (2015).

    Article  Google Scholar 

  81. Johnson, R. et al. Leveraging genomic diversity for discovery in an electronic health record linked biobank: the UCLA ATLAS community health initiative. Genome Med. 14, 104 (2022).

    Article  PubMed  PubMed Central  Google Scholar 

  82. Yudell, M., Roberts, D., DeSalle, R. & Tishkoff, S. SCIENCE AND SOCIETY. Taking race out of human genetics. Science 351, 564–565 (2016).

    Article  CAS  PubMed  Google Scholar 

  83. Martin, A. R. et al. Human demographic history impacts genetic risk prediction across diverse populations. Am. J. Hum. Genet. 100, 635–649 (2017).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  84. Wojcik, G. L. et al. Genetic analyses of diverse populations improves discovery for complex traits. Nature 570, 514–518 (2019).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  85. Alarcon-Riquelme, M. E. et al. Genome-wide association study in an Amerindian Ancestry population reveals novel systemic lupus erythematosus risk loci and the role of European admixture. Arthritis Rheumatol. 68, 932–943 (2016).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  86. Langefeld, C. D. et al. Transancestral mapping and genetic load in systemic lupus erythematosus. Nat. Commun. 8, 16021 (2017).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  87. Patel, Z. H. et al. A plausibly causal functional lupus-associated risk variant in the STAT1–STAT4 locus. Hum. Mol. Genet. 27, 2392–2404 (2018).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  88. Martin, A. R. et al. Clinical use of current polygenic risk scores may exacerbate health disparities. Nat. Genet. 51, 584–591 (2019).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  89. Guthridge, J. M., Wagner, C. A. & James, J. A. The promise of precision medicine in rheumatology. Nat. Med. 28, 1363–1371 (2022).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  90. Feldman, M. W. & Lewontin, R. C. The heritability hang-up. Science 190, 1163–1168 (1975).

    Article  CAS  PubMed  Google Scholar 

  91. Moore, D. S. & Shenk, D. The heritability fallacy. Wiley Interdiscip. Rev. Cogn. Sci. 8, e1400 (2017).

  92. Ramos-Casals, M. et al. How the frequency and phenotype of sarcoidosis is driven by environmental determinants. Lung 197, 427–436 (2019).

    Article  CAS  PubMed  Google Scholar 

  93. Peschken, C. A. Health disparities in systemic lupus erythematosus. Rheum. Dis. Clin. North. Am. 46, 673–683 (2020).

    Article  PubMed  Google Scholar 

  94. Wu, H., Eckhardt, C. M. & Baccarelli, A. A. Molecular mechanisms of environmental exposures and human disease. Nat. Rev. Genet. 24, 332–344 (2023).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  95. Tsai, M. H. et al. Urban particulate matter enhances ROS/IL-6/COX-II production by inhibiting MicroRNA-137 in synovial fibroblast of rheumatoid arthritis. Cells 9, 1378 (2020).

  96. Stojanovich, L. Stress and autoimmunity. Autoimmun. Rev. 9, A271–A276 (2010).

    Article  CAS  PubMed  Google Scholar 

  97. Katrinli, S., Oliveira, N. C. S., Felger, J. C., Michopoulos, V. & Smith, A. K. The role of the immune system in posttraumatic stress disorder. Transl. Psychiatry 12, 313 (2022).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  98. Song, H. et al. Association of stress-related disorders with subsequent autoimmune disease. JAMA 319, 2388–2400 (2018).

    Article  PubMed  PubMed Central  Google Scholar 

  99. Cui, J. et al. Risk prediction models for incident systemic lupus erythematosus among women in the Nurses’ health study cohorts using genetics, family history, and lifestyle and environmental factors. Semin. Arthritis Rheum. 58, 152143 (2023).

    Article  PubMed  Google Scholar 

  100. Franzini, L. & Fernandez-Esquer, M. E. The association of subjective social status and health in low-income Mexican-origin individuals in Texas. Soc. Sci. Med. 63, 788–804 (2006).

    Article  PubMed  Google Scholar 

  101. Galasso, I. Precision medicine for whom? Public health outputs from “Genomics England” and “All of Us” to make up for upstream and downstream exclusion. Am. J. Bioeth. 24, 71–85 (2024).

    Article  PubMed  Google Scholar 

  102. All of Us research program. Operational Protocol. https://allofus.nih.gov/about/all-us-research-program-protocol (2024).

  103. Wolf, S. M., Bonham, V. L. & Bruce, M. A. How can law support development of genomics and precision medicine to advance health equity and reduce disparities? Ethn. Dis. 29, 623–628 (2019).

    Article  PubMed  PubMed Central  Google Scholar 

  104. Borgia, R. E. & Alarcon, G. S. Community-engaged research to address health disparities in systemic lupus erythematosus. Arthritis Care Res. 73, 305–307 (2021).

    Article  Google Scholar 

  105. Leatherwood, C. et al. Community-engaged research: leveraging community-academic partnerships to reduce disparities and inequities in lupus care. Rheum. Dis. Clin. North. Am. 47, 109–118 (2021).

    Article  PubMed  Google Scholar 

  106. Jeske, M. et al. Beyond inclusion: enacting team equity in precision medicine research. PLoS ONE 17, e0263750 (2022).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  107. Drenkard, C. & Lim, S. S. Update on lupus epidemiology: advancing health disparities research through the study of minority populations. Curr. Opin. Rheumatol. 31, 689–696 (2019).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  108. Bien, S. A. et al. Strategies for enriching variant coverage in candidate disease loci on a multiethnic genotyping array. PLoS ONE 11, e0167758 (2016).

    Article  PubMed  PubMed Central  Google Scholar 

  109. Wang, T. et al. The Human Pangenome Project: a global resource to map genomic diversity. Nature 604, 437–446 (2022).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  110. Wong, K. H. Y. et al. Towards a reference genome that captures global genetic diversity. Nat. Commun. 11, 5482 (2020).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  111. Long, E. et al. The case for increasing diversity in tissue-based functional genomics datasets to understand human disease susceptibility. Nat. Commun. 13, 2907 (2022).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  112. Kachuri, L. et al. Principles and methods for transferring polygenic risk scores across global populations. Nat. Rev. Genet. 25, 8–25 (2024).

    Article  CAS  PubMed  Google Scholar 

  113. Lim, S. S. & Drenkard, C. Understanding lupus disparities through a social determinants of health framework: the Georgians organized against lupus research cohort. Rheum. Dis. Clin. North. Am. 46, 613–621 (2020).

    Article  PubMed  Google Scholar 

  114. All of Us Research Program Investigators. et al. The “All of Us” Research Program. N. Engl. J. Med. 381, 668–676 (2019).

    Article  Google Scholar 

  115. The National Genomics Research Library v5.1; https://www.genomicsengland.co.uk/initiatives/100000-genomes-project/documentation (Genomics England, 2020).

  116. Cantor, M. N. & Thorpe, L. Integrating data on social determinants of health into electronic health records. Health Aff. 37, 585–590 (2018).

    Article  Google Scholar 

  117. Zhang, L. et al. Multidisciplinary care in patients with systemic lupus erythematosus: a randomized controlled trial in China. Int. J. Clin. Pharm. 41, 1247–1255 (2019).

    Article  PubMed  Google Scholar 

  118. Fanouriakis, A. et al. Multidisciplinary approach to lupus nephritis: clinical pearls, pitfalls, and positioning of newly-approved agents. Lupus 32, 1155–1163 (2023).

    Article  CAS  PubMed  Google Scholar 

  119. Suresh, L., Malyavantham, K., Shen, L. & Ambrus, J. L. Jr Investigation of novel autoantibodies in Sjogren’s syndrome utilizing sera from the Sjogren’s international collaborative clinical alliance cohort. BMC Ophthalmol. 15, 38 (2015).

    Article  PubMed  PubMed Central  Google Scholar 

  120. Garthwaite, K., Smith, K. E., Bambra, C. & Pearce, J. Desperately seeking reductions in health inequalities: perspectives of UK researchers on past, present and future directions in health inequalities research. Sociol. Health Illn. 38, 459–478 (2016).

    Article  PubMed  Google Scholar 

  121. Collyer, T. A. & Smith, K. E. An atlas of health inequalities and health disparities research: “How is this all getting done in silos, and why? Soc. Sci. Med. 264, 113330 (2020).

    Article  PubMed  PubMed Central  Google Scholar 

  122. NIH-Office of Research on Women’s Health. Meet the 2023 EXACT-PLAN Award Recipients. https://orwh.od.nih.gov/in-the-spotlight/all-articles/meet-2023-exact-plan-award-recipients (2023).

  123. Khan, A. T. et al. Recommendations on the use and reporting of race, ethnicity, and ancestry in genetic research: experiences from the NHLBI TOPMed program. Cell Genom 2,100155 (2022).

  124. Carlson, J., Henn, B. M., Al-Hindi, D. R. & Ramachandran, S. Counter the weaponization of genetics research by extremists. Nature 610, 444–447 (2022).

    Article  CAS  PubMed  Google Scholar 

  125. Schramowski, P., Turan, C., Andersen, N., Rothkopf, C. A. & Kersting, K. Large pre-trained language models contain human-like biases of what is right and wrong to do. Nat. Mach. Intell. 4, 258–268 (2022).

    Article  Google Scholar 

  126. Bender, E. M., Gebru, T., McMillan-Major, A. & Shmitchell, S. in: Proceedings of the 2021 ACM Conference on Fairness, Accountability, and Transparency. 610–623 (Association for Computing Machinery, Virtual Event, Canada, 2021).

  127. Helget, L. N. & Mikuls, T. R. Environmental triggers of hyperuricemia and gout. Rheum. Dis. Clin. North. Am. 48, 891–906 (2022).

    Article  PubMed  PubMed Central  Google Scholar 

  128. Costenbader, K. H. et al. Cigarette smoking and the risk of systemic lupus erythematosus: a meta-analysis. Arthritis Rheum. 50, 849–857 (2004).

    Article  PubMed  Google Scholar 

  129. Freemer, M. M., King, T. E. Jr & Criswell, L. A. Association of smoking with dsDNA autoantibody production in systemic lupus erythematosus. Ann. Rheum. Dis. 65, 581–584 (2006).

    Article  CAS  PubMed  Google Scholar 

  130. Takvorian, S. U., Merola, J. F. & Costenbader, K. H. Cigarette smoking, alcohol consumption and risk of systemic lupus erythematosus. Lupus 23, 537–544 (2014).

    Article  CAS  PubMed  Google Scholar 

  131. Ekblom-Kullberg, S. et al. Smoking, disease activity, permanent damage and dsDNA autoantibody production in patients with systemic lupus erythematosus. Rheumatol. Int. 34, 341–345 (2014).

    Article  CAS  PubMed  Google Scholar 

  132. Klareskog, L., Padyukov, L. & Alfredsson, L. Smoking as a trigger for inflammatory rheumatic diseases. Curr. Opin. Rheumatol. 19, 49–54 (2007).

    Article  CAS  PubMed  Google Scholar 

  133. Forsyth, C. et al. The effects of the Mediterranean diet on rheumatoid arthritis prevention and treatment: a systematic review of human prospective studies. Rheumatol. Int. 38, 737–747 (2018).

    Article  PubMed  Google Scholar 

  134. Pocovi-Gerardino, G. et al. Beneficial effect of Mediterranean diet on disease activity and cardiovascular risk in systemic lupus erythematosus patients: a cross-sectional study. Rheumatology 60, 160–169 (2021).

    Article  CAS  PubMed  Google Scholar 

  135. Gwinnutt, J. M. et al. 2021 EULAR recommendations regarding lifestyle behaviours and work participation to prevent progression of rheumatic and musculoskeletal diseases. Ann. Rheum. Dis. 82, 48–56 (2023).

    Article  PubMed  Google Scholar 

  136. Metsios, G. S. & Kitas, G. D. Physical activity, exercise and rheumatoid arthritis: effectiveness, mechanisms and implementation. Best. Pract. Res. Clin. Rheumatol. 32, 669–682 (2018).

    Article  PubMed  Google Scholar 

  137. Sieczkowska, S. M. et al. Efficacy of home-based physical activity interventions in patients with autoimmune rheumatic diseases: a systematic review and meta-analysis. Semin. Arthritis Rheum. 51, 576–587 (2021).

    Article  PubMed  Google Scholar 

  138. Blaess, J. et al. Benefits & risks of physical activity in patients with Systemic Lupus Erythematosus: a systematic review of the literature. Semin. Arthritis Rheum. 58, 152128 (2023).

    Article  PubMed  Google Scholar 

  139. Wieczorek, M. et al. Smoking, alcohol consumption and disease-specific outcomes in rheumatic and musculoskeletal diseases (RMDs): systematic reviews informing the 2021 EULAR recommendations for lifestyle improvements in people with RMDs. RMD Open 8, e002170 (2022).

  140. Xu, Y. & Wu, Q. Prevalence trend and disparities in rheumatoid arthritis among US Adults, 2005–2018. J. Clin. Med. 10, 3289 (2021).

    Article  PubMed  PubMed Central  Google Scholar 

  141. Arkema, E. V. & Cozier, Y. C. Sarcoidosis epidemiology: recent estimates of incidence, prevalence and risk factors. Curr. Opin. Pulm. Med. 26, 527–534 (2020).

    Article  PubMed  PubMed Central  Google Scholar 

  142. Izmirly, P. M. et al. Prevalence of systemic lupus erythematosus in the United States: estimates from a meta-analysis of the Centers for Disease Control and Prevention National Lupus Registries. Arthritis Rheumatol. 73, 991–996 (2021).

    Article  PubMed  PubMed Central  Google Scholar 

  143. Leonardo, N. M. & McNeil, J. Behcet’s disease: is there geographical variation? a review far from the silk road. Int. J. Rheumatol. 2015, 945262 (2015).

    Article  PubMed  PubMed Central  Google Scholar 

  144. Zhu, W., Ayoub, S., Morand, E., Tillett, W. & Antony, A. The evolving demographics of participants in psoriatic arthritis phase III randomised controlled trials of b/tsDMARDs: a systematic review. Semin. Arthritis Rheum. 60, 152175 (2023).

    Article  CAS  PubMed  Google Scholar 

  145. Izmirly, P. M. et al. The incidence and prevalence of adult primary Sjögren’s syndrome in New York County. Arthritis Care Res. 71, 949–960 (2019).

    Article  Google Scholar 

  146. Maldini, C. et al. Epidemiology of primary Sjögren’s syndrome in a French multiracial/multiethnic area. Arthritis Care Res. 66, 454–463 (2014).

    Article  Google Scholar 

  147. Capelusnik, D. et al. Individual-level and country-level socio-economic factors and health outcomes in spondyloarthritis: analysis of the ASAS-perSpA study. Rheumatology 61, 2043–2053 (2022).

    Article  PubMed  Google Scholar 

  148. Putrik, P. et al. Individual-level and country-level socioeconomic determinants of disease outcomes in SpA: multinational, cross-sectional study (ASAS-COMOSPA). Ann. Rheum. Dis. 78, 486–493 (2019).

    Article  PubMed  Google Scholar 

  149. Takeshita, J., Chau, J., Duffin, K. C. & Goel, N. Promoting diversity, equity, and inclusion for psoriatic diseases. J. Rheumatol. 49, 48–51 (2022).

    PubMed  Google Scholar 

Download references

Acknowledgements

D.B.F. discloses support for the research of this work from the US National Institutes of Health (NIH) [K08 AR078372]. S.S.L. discloses support for the research of this work from the NIH [R01 MD015395] and CDC [U01 DP006698]. P.S.R. discloses support for the research of this work from the NIH [R01 MD015395, R21 AR084038, and P30 AR072582].

Author information

Authors and Affiliations

Authors

Contributions

P.S.R. and H.C.A. contributed to all aspects of this manuscript. D.B.F. and S.S.L. made a substantial contribution to discussion of content, and wrote, reviewed and edited the manuscript before submission.

Corresponding author

Correspondence to Paula S. Ramos.

Ethics declarations

Competing interests

The authors declare no competing interests.

Peer review

Peer review information

Nature Reviews Rheumatology thanks Elena Nikiphorou and the other, anonymous, reviewer(s) for their contribution to the peer review of this work.

Additional information

Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Supplementary information

Rights and permissions

Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Ainsworth, H.C., Baker Frost, D., Lim, S.S. et al. Breaking research silos to achieve equitable precision medicine in rheumatology. Nat Rev Rheumatol (2025). https://doi.org/10.1038/s41584-024-01204-7

Download citation

  • Accepted:

  • Published:

  • DOI: https://doi.org/10.1038/s41584-024-01204-7

Search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing