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J Am Med Inform Assoc. 2024 Apr 3;31(4):846-854. doi: 10.1093/jamia/ocad260.
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Air quality and cancer risk in the All of Us Research Program.“我们所有人”研究项目中的空气质量与癌症风险
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The Data and Research Center: Creating a Secure, Scalable, and Sustainable Ecosystem for Biomedical Research.数据与研究中心:为生物医学研究创建安全、可扩展和可持续的生态系统。
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Precision medicine in 2030-seven ways to transform healthcare.2030 年的精准医学——改变医疗的七种方式。
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The International Hundred Thousand Plus Cohort Consortium: integrating large-scale cohorts to address global scientific challenges.国际十万加队列联盟:整合大规模队列以应对全球科学挑战。
Lancet Digit Health. 2020 Nov;2(11):e567-e568. doi: 10.1016/S2589-7500(20)30242-9. Epub 2020 Oct 19.
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Diversity and inclusion for the All of Us research program: A scoping review.《全民研究计划的多样性和包容性:范围综述》。
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The GWAS Diversity Monitor tracks diversity by disease in real time.全基因组关联研究多样性监测器实时追踪按疾病划分的多样性情况。
Nat Genet. 2020 Mar;52(3):242-243. doi: 10.1038/s41588-020-0580-y.
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通过精准医疗为所有人创造更健康的未来。

ENABLING A HEALTHIER FUTURE FOR ALL THROUGH PRECISION MEDICINE.

作者信息

Denny Joshua C

机构信息

Bethesda, MD.

出版信息

Trans Am Clin Climatol Assoc. 2025;135:60-73.

PMID:40771618
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12323482/
Abstract

The National Institutes of Health's Research Program is building one of the most comprehensive research cohorts in the United States. Launched in 2018, the program has enrolled more than 849,000 individuals to empower precision medicine relevant to all populations. Participants in share complete surveys, share electronic health records, donate biospecimens, and contribute other data, such as wearable device data. To date, has generated whole genome sequences for more than 414,000 participants and returned actionable genetic health information to more than 100,000. By examining the technological, engagement, and data integration challenges encountered, this paper highlights how builds on pioneering efforts in biomedical research and points to future directions, including expanded data sharing, international cooperation, and the potential to drive transformative discoveries in personalized health care. Current successes also highlight necessary future directions: even larger and more comprehensive cohorts, better data sharing, and more international cooperation.

摘要

美国国立卫生研究院的研究项目正在打造美国最全面的研究队列之一。该项目于2018年启动,已招募了超过84.9万人,以推动与所有人群相关的精准医学发展。参与者需完成全面调查、共享电子健康记录、捐赠生物样本,并提供其他数据,如可穿戴设备数据。迄今为止,该项目已为超过41.4万名参与者生成了全基因组序列,并向超过10万人反馈了可采取行动指导健康的基因信息。通过审视所遇到的技术、参与度和数据整合挑战,本文强调了该项目如何在生物医学研究的开创性努力基础上进一步发展,并指出了未来的方向,包括扩大数据共享、开展国际合作以及在个性化医疗保健领域推动变革性发现的潜力。目前取得的成功也凸显了未来必要的发展方向:建立规模更大、更全面的队列,加强数据共享,以及开展更多国际合作。