A framework for sharing of clinical and genetic data for precision medicine applications

Precision medicine has the potential to provide more accurate diagnosis, appropriate treatment and timely prevention strategies by considering patients' biological makeup. However, this cannot be realized without integrating clinical and omics data in a data-sharing framework that achieves large sample sizes. Systems that integrate clinical and genetic data from multiple sources are scarce due to their distinct data types, interoperability, security and data ownership issues. Here we present a secure framework that allows immutable storage, querying and analysis of clinical and genetic data using blockchain technology. Our platform allows clinical and genetic data to be harmonized by combining them under a unified framework. It supports combined genotype-phenotype queries and analysis, gives institutions control of their data and provides immutable user access logs, improving transparency into how and when health information is used. We demonstrate the value of our framework for precision medicine by creating genotype-phenotype cohorts and examining relationships within them. We show that combining data across institutions using our secure platform increases statistical power for rare disease analysis. By offering an integrated, secure and decentralized framework, we aim to enhance reproducibility and encourage broader participation from communities and patients in data sharing.

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Publication Details

Journal
Nature Medicine
Published
2024-09-03
DOI
https://doi.org/10.1038/s41591-024-03239-5
Citations
29
Primary Topic
Genomics and Rare Diseases
Type
article
Field-Weighted Citation Impact
15.96

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article

A framework for sharing of clinical and genetic data for precision medicine applications

Ulugbek K. Baymuradov, Ahmed El‐Hussein
29 citations
Nature Medicine
Genomics and Rare Diseases
15.96
article

A framework for sharing of clinical and genetic data for precision medicine applications

Ulugbek K. Baymuradov, Ahmed El‐Hussein
article en
29 citations

Abstract

Precision medicine has the potential to provide more accurate diagnosis, appropriate treatment and timely prevention strategies by considering patients' biological makeup. However, this cannot be realized without integrating clinical and omics data in a data-sharing framework that achieves large sample sizes. Systems that integrate clinical and genetic data from multiple sources are scarce due to their distinct data types, interoperability, security and data ownership issues. Here we present a secure framework that allows immutable storage, querying and analysis of clinical and genetic data using blockchain technology. Our platform allows clinical and genetic data to be harmonized by combining them under a unified framework. It supports combined genotype-phenotype queries and analysis, gives institutions control of their data and provides immutable user access logs, improving transparency into how and when health information is used. We demonstrate the value of our framework for precision medicine by creating genotype-phenotype cohorts and examining relationships within them. We show that combining data across institutions using our secure platform increases statistical power for rare disease analysis. By offering an integrated, secure and decentralized framework, we aim to enhance reproducibility and encourage broader participation from communities and patients in data sharing.

Nature MedicineVol. 30(12)
Broad Institute (US), Uppsala University (SE), University of Maryland, Baltimore (US), Hospital for Special Surgery (US), Cedars-Sinai Medical Center (US), Brigham and Women's Hospital (US), Translational Genomics Research Institute (US), National Institutes of Health (US), Northwell Health (US), Pennsylvania State University (US), Allen Institute for Brain Science (US), Gladstone Institutes (US), Barrow Neurological Institute (US), St. Joseph's Hospital and Medical Center (US), Feinstein Institute for Medical Research (US), Children's Hospital of Philadelphia (US), Harvard University (US), Johns Hopkins University (US), University of Thessaly (GR), Henry Ford Health System (US), Tel Aviv University (IL), Queen Mary University of London (GB), University of California, San Francisco (US), Georgetown University (US), Hebrew University of Jerusalem (IL), National and Kapodistrian University of Athens (GR), University of California, Irvine (US), Washington University in St. Louis (US), Cornell University (US), Cold Spring Harbor Laboratory (US), Columbia University Irving Medical Center (US), Spaulding Rehabilitation Hospital (US), Tel Aviv Sourasky Medical Center (IL), Johns Hopkins Medicine (US), Hadassah Medical Center (IL), Georgetown University Medical Center (US), Leiden University Medical Center (NL), Overlook Medical Center (US), Science for Life Laboratory (SE), New York Stem Cell Foundation (US), Morristown Medical Center (US), Amsterdam UMC Location University of Amsterdam (NL), University of California San Diego (US), Massachusetts General Hospital (US), Clinical Research Institute (US), Biomedical Research Foundation of the Academy of Athens (GR), MRC Centre for Regenerative Medicine (GB), National Institute of Neurological Disorders and Stroke (US), Institute for Neurodegenerative Disorders (US), Jackson Laboratory (US), Basildon Hospital (GB), Eginition Hospital (GR), New York Genome Center (US), National Hospital for Neurology and Neurosurgery (GB), University College London (GB), Weizmann Institute of Science (IL), Stony Brook University (US), Massachusetts Institute of Technology (US), Atlantic Health System (US), Columbia University (US), University of Pennsylvania (US), Penn State Milton S. Hershey Medical Center (US), Temple University (US), University of Amsterdam (NL), University of Edinburgh (GB), Icahn School of Medicine at Mount Sinai (US)
Biogen, University of Minnesota, Washington University in St. Louis, University of Pittsburgh, Target ALS, Cedars-Sinai Medical Center, Tow Foundation, New York Genome Center, National Institutes of Health, Houston Methodist Research Institute, National Human Genome Research Institute, National Institute of General Medical Sciences
Openalex Percentile: Top 1%
Genomics and Rare Diseases
15.96
DOIOpen Access PDFOpenAlex
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