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Data Interoperability and Harmonization in Cardiovascular Genomic and Precision Medicine

Chahal, C Anwar A; Alahdab, Fares; Asatryan, Babken; Addison, Daniel; Aung, Nay; Chung, Mina K; Denaxas, Spiros; ... Armoundas, Antonis A; + view all (2025) Data Interoperability and Harmonization in Cardiovascular Genomic and Precision Medicine. Circulation: Genomic and Precision Medicine , 18 (3) , Article e004624. 10.1161/CIRCGEN.124.004624. Green open access

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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.

Type: Article
Title: Data Interoperability and Harmonization in Cardiovascular Genomic and Precision Medicine
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1161/CIRCGEN.124.004624
Publisher version: https://doi.org/10.1161/circgen.124.004624
Language: English
Additional information: Copyright © 2025 The Authors. Circulation: Genomic and Precision Medicine is published on behalf of the American Heart Association, Inc., by Wolters Kluwer Health, Inc. This is an open access article under the terms of the Creative Commons Attribution Non-Commercial-NoDerivs License (https://creativecommons.org/licenses/by-nc-nd/4.0/), which permits use, distribution, and reproduction in any medium, provided that the original work is properly cited, the use is noncommercial, and no modifications or adaptations are made.
Keywords: big data, electronic health records, natural language processing, phenomics, translational research, biomedical
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Health Informatics
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Health Informatics > Clinical Epidemiology
URI: https://discovery.ucl.ac.uk/id/eprint/10210466
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