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打破研究壁垒,实现风湿病学领域的公平精准医疗。

Breaking research silos to achieve equitable precision medicine in rheumatology.

作者信息

Ainsworth Hannah C, Baker Frost DeAnna, Lim S Sam, Ramos Paula S

机构信息

Department of Biostatistics and Data Science, Division of Public Health Sciences, Wake Forest University School of Medicine, Winston-Salem, NC, USA.

Wake Forest Center for Precision Medicine, Wake Forest University School of Medicine, Winston-Salem, NC, USA.

出版信息

Nat Rev Rheumatol. 2025 Feb;21(2):98-110. doi: 10.1038/s41584-024-01204-7. Epub 2025 Jan 10.


DOI:10.1038/s41584-024-01204-7
PMID:39794514
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11910143/
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.

摘要

风湿性疾病中的健康差异已得到充分证实,迫切需要加以解决。精准医学公平性面临的障碍横跨临床和研究领域,重点在于限制公平医疗服务可及性和研究包容性的结构性障碍。较少被提及的因素包括使用不准确的人群描述以及风湿病研究中存在的研究孤岛现象,这造成了知识差距,妨碍了解决健康差异问题以及实现精准医学理解“完整患者”的目标。生物心理社会模型是一个研究框架,它将生物和环境影响的各层因素交织在一起以理解疾病。然而,跨环境暴露(如健康的物理和社会决定因素)的分子和流行病学研究之间的风湿病研究非常有限。在本综述中,我们讨论了医疗公平性的临床障碍,包括医疗服务的可及性以及在标记人群组时使用不准确的语言。我们探讨了生物心理社会模型下研究所需的目标和数据。我们描述了一项风湿性疾病文献检索的结果,该结果凸显了研究全身暴露分子影响的研究匮乏。我们最后列出了一系列考虑因素和建议,以帮助实现公平的精准医学。

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本文引用的文献

[1]
Clarity for the language of race, ethnicity and genetic ancestry in rheumatology.

Nat Rev Rheumatol. 2024-8

[2]
Guidance on Use of Race, Ethnicity, and Geographic Origin as Proxies for Genetic Ancestry Groups in Biomedical Publications.

JAMA. 2024-4-16

[3]
From "Inclusion in What" to "Equity in What": (Re)Thinking the Question of In/Equity in Precision Medicine and Health.

Am J Bioeth. 2024-3

[4]
The Application of Genetic Risk Scores in Rheumatic Diseases: A Perspective.

Genes (Basel). 2023-12-1

[5]
The roots of (in)equity in precision medicine: gaps in the discourse.

Per Med. 2024-1

[6]
Extending an Antiracism Lens to the Implementation of Precision Public Health Interventions.

Am J Public Health. 2023-11

[7]
Principles and methods for transferring polygenic risk scores across global populations.

Nat Rev Genet. 2024-1

[8]
Disparities in Lupus and the Role of Social Determinants of Health: Current State of Knowledge and Directions for Future Research.

ACR Open Rheumatol. 2023-9

[9]
Multidisciplinary approach to lupus nephritis: Clinical pearls, pitfalls, and positioning of newly-approved agents.

Lupus. 2023-9

[10]
Factors associated with life satisfaction in systemic sclerosis: Examining the moderating roles of social support and spiritual well-being.

J Scleroderma Relat Disord. 2023-6

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