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心血管基因组学与精准医学中的数据互操作性与协调统一

Data Interoperability and Harmonization in Cardiovascular Genomic and Precision Medicine.

作者信息

Chahal C Anwar A, Alahdab Fares, Asatryan Babken, Addison Daniel, Aung Nay, Chung Mina K, Denaxas Spiros, Dunn Jessilyn, Hall Jennifer L, Pamir Nathalie, Slotwiner David J, Vargas Jose D, Armoundas Antonis A

机构信息

Department of Heart and Vascular, Center for Inherited Cardiovascular Diseases, WellSpan Health, York, PA (C.A.A.C.).

Department of Cardiology, Barts Heart Center, London, United Kingdom (C.A.A.C., N.A.).

出版信息

Circ Genom Precis Med. 2025 Jun;18(3):e004624. doi: 10.1161/CIRCGEN.124.004624. Epub 2025 May 9.

Abstract

Despite advances in cardiovascular care and improved outcomes, fragmented healthcare systems, nonequitable access to health care, and nonuniform and unbiased collection and access to healthcare data have exacerbated disparities in healthcare provision and further delayed the technological-enabled implementation of precision medicine. Precision medicine relies on a foundation of accurate and valid omics and phenomics that can be harnessed at scale from electronic health records. Big data approaches in noncardiovascular healthcare domains have helped improve efficiency and expedite the development of novel therapeutics; therefore, applying such an approach to cardiovascular precision medicine is an opportunity to further advance the field. Several endeavors, including the American Heart Association Precision Medicine platform and public-private partnerships (such as BigData@Heart in Europe), as well as cloud-based platforms, such as Terra used for the National Institutes of Health All of Us, are attempting to temporally and ontologically harmonize data. This state-of-the-art review summarizes best practices used in cardiovascular genomic and precision medicine and provides recommendations for systems' requirements that could enhance and accelerate the integration of these platforms.

摘要

尽管心血管护理取得了进展,治疗效果有所改善,但医疗保健系统碎片化、医疗保健获取不公平,以及医疗数据的收集和获取缺乏一致性和公正性,加剧了医疗服务的差距,并进一步推迟了精准医学在技术支持下的实施。精准医学依赖于准确有效的组学和表型组学基础,这些可以从电子健康记录中大规模获取。非心血管医疗领域的大数据方法有助于提高效率并加速新型疗法的开发;因此,将这种方法应用于心血管精准医学是推动该领域进一步发展的一个契机。包括美国心脏协会精准医学平台和公私合作伙伴关系(如欧洲的“心脏大数据”),以及用于美国国立卫生研究院“我们所有人”项目的基于云的平台Terra在内的多项努力,都在尝试在时间和本体上协调数据。这篇综述总结了心血管基因组学和精准医学中使用的最佳实践,并为能够加强和加速这些平台整合的系统要求提供了建议。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2218/12173165/b814ffbf9efb/hcg-18-e004624-g001.jpg

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