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Updated: Jun 10, 2025

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促进罕见疾病研究中的公平:从未诊断的疾病网络的见解

Nicholas A Borja¹, Rory J Tinker², Stephanie A Bivona¹

¹John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA.

American journal of medical genetics. Part A

|October 14, 2024

概括

在未诊断疾病网络 (UDN) 中,少数民族和种族群体的代表性不足. 然而,在考虑了其他因素后,没有发现罕见疾病诊断率的差异,这凸显了包容性研究的必要性.

科学领域:

医学遗传学医学遗传学
罕见疾病罕见疾病
健康差异在健康上的差异

背景情况:

罕见疾病影响6-8%的人口,造成重大诊断挑战.
历史上被边缘化的民族和种族群体面临着特殊的诊断障碍.
未诊断疾病网络 (UDN) 旨在改善这些群体的诊断和研究参与.

研究的目的:

评估UDN在加强少数族裔和种族群体的诊断和研究参与方面的进展.
识别UDN参与和诊断结果中的差异.
探索导致罕见病研究中种族和种族代表性的因素.

主要方法:

从2015年到2023年,对2235名UDN参与者的回顾性审查.
对人口,表型,诊断和社会经济数据的分析.
统计评估种族和种族群体在参与和诊断方面的差异.

主要成果:

西班牙裔和黑人非西班牙裔人士的代表不足;白人非西班牙裔人士在UDN中代表过多.
非英语主要语言说话者显著代表性不足.
诊断率因群体而异,但只有年龄和表型在控制其他因素后预测了诊断可能性.

结论:

民族和种族差异仍然存在于UDN参与中,可能是由于社会经济和语言障碍.
在控制共变量时,在种族和种族群体之间没有观察到诊断收益率的差异.
综合性遗传评估对于解决医疗保健差异和推进罕见病研究的纳入至关重要.

关键词:

多样性的多样性多样性的多样性卫生公平性健康公平性包容性包容性包含性罕见疾病研究罕见疾病研究不被诊断的疾病网络网络.

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