Evidence map›Paper›PMID 39227443›Full record

ArticleNature medicine2024

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

Ahmed Elhussein, Ulugbek Baymuradov, NYGC ALS Consortium, Noémie Elhadad, Karthik Natarajan, Gamze Gürsoy

Abstract read
In one paragraph

Article in Nature medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

16 citing papers in PubMed.

  1. Article
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  7. Article
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  9. Blockchain integration for rare disease clinical trials.Annals of medicine and surgery (2012) · 2026
    Article
  10. Review
  11. Article
  12. Article
  13. Article
  14. Review
  15. An Implemented Real-World-Data Pipeline for Standardization of Electronic Health Records in Precision Oncology.AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science · 2025
    Article
  16. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors.

Ahmed ElhusseinDepartment of Biomedical Informatics, Columbia University, New York, NY, USA.
Ulugbek BaymuradovNew York Genome Center, New York, NY, USA.
NYGC ALS Consortium
Noémie ElhadadDepartment of Biomedical Informatics, Columbia University, New York, NY, USA.
Karthik NatarajanDepartment of Biomedical Informatics, Columbia University, New York, NY, USA.ORCID http://orcid.org/0000-0002-9066-9431
Gamze GürsoyDepartment of Biomedical Informatics, Columbia University, New York, NY, USA. gamze.gursoy@columbia.edu.ORCID http://orcid.org/0000-0002-1352-8686

Funding

Research Education ComponentP30AG066514 · NIA · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Margaret Sewell · 2020 to 2026
$31.0M
Tools to Address the Challenges of Preserving Privacy in Sharing and Analysis of Biomedical DataR35GM147004 · NIGMS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI GURSOY, GAMZE · 2022 to 2025
$1.8M
Realistic quantification of potential privacy loss from genomic summary resultsR00HG010909 · NHGRI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI GURSOY, GAMZE · 2022 to 2024
$727k
NHGRI NIH HHS R00 HG010909NIA NIH HHS P30 AG066514NIGMS NIH HHS R35 GM147004U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI) R00HG010909U.S. Department of Health & Human Services | NIH | National Institute of General Medical Sciences (NIGMS) R35GM147004
6 · The paper itself

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.

Indexed as

Information DisseminationPrecision MedicineBlockchainComputer SecurityGenotypeHumansPhenotype

Identifiers

PMID39227443
PMCPMC11645287

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.