Evidence map›Paper›PMID 35799370›Full record

ArticleJournal of the American Medical Informatics Association : JAMIA2022

Design and validation of a FHIR-based EHR-driven phenotyping toolbox.

Pascal S Brandt, Jennifer A Pacheco, Prakash Adekkanattu, Evan T Sholle, Sajjad Abedian, Daniel J Stone, David M Knaack, Jie Xu, Zhenxing Xu, Yifan Peng and 6 more

Abstract read
In one paragraph

Article in Journal of the American Medical Informatics Association : JAMIA, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed, 1 pooled it
–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

6 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Validation of an acute respiratory infection phenotyping algorithm to support robust computerised medical record-based respiratory sentinel surveillance, England, 2023.Euro surveillance : bulletin Europeen sur les maladies transmissibles = European communicable disease bulletin · 2024
    Article
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  5. Article
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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

16 authors.

Pascal S BrandtDepartment of Biomedical Informatics and Medical Education, University of Washington, Seattle, Washington, USA.ORCID 0000-0001-5116-0555
Jennifer A PachecoDepartment of Preventive Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.ORCID 0000-0001-8021-5818
Prakash AdekkanattuDepartment of Healthcare Policy and Research, Weill Cornell Medicine, New York, New York, USA.
Evan T SholleDepartment of Healthcare Policy and Research, Weill Cornell Medicine, New York, New York, USA.ORCID 0000-0001-9518-4399
Sajjad AbedianDepartment of Healthcare Policy and Research, Weill Cornell Medicine, New York, New York, USA.
Daniel J StoneDepartment of Artificial Intelligence and Informatics, Mayo Clinic, Rochester, Minnesota, USA.
David M KnaackDepartment of Artificial Intelligence and Informatics, Mayo Clinic, Rochester, Minnesota, USA.
Jie XuDepartment of Healthcare Policy and Research, Weill Cornell Medicine, New York, New York, USA.
Zhenxing XuDepartment of Healthcare Policy and Research, Weill Cornell Medicine, New York, New York, USA.
Yifan PengDepartment of Healthcare Policy and Research, Weill Cornell Medicine, New York, New York, USA.ORCID 0000-0001-9309-8331
Natalie C BendaDepartment of Healthcare Policy and Research, Weill Cornell Medicine, New York, New York, USA.ORCID 0000-0002-3256-0243
Fei WangDepartment of Healthcare Policy and Research, Weill Cornell Medicine, New York, New York, USA.
Yuan LuoDepartment of Preventive Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.ORCID 0000-0003-0195-7456
Guoqian JiangDepartment of Artificial Intelligence and Informatics, Mayo Clinic, Rochester, Minnesota, USA.
Jyotishman PathakDepartment of Healthcare Policy and Research, Weill Cornell Medicine, New York, New York, USA.
Luke V RasmussenDepartment of Preventive Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.ORCID 0000-0002-4497-8049

Funding

National Infrastructure for Standardized and Portable EHR Phenotyping AlgorithmsR01GM105688 · NIGMS · WEILL MEDICAL COLL OF CORNELL UNIV · PI LUO, YUAN, PATHAK, JYOTISHMAN · 2013 to 2020
$5.7M
CRITICAL: Collaborative Resource for Intensive care Translational science, Informatics, Comprehensive Analytics, and LearningU01TR003528 · NCATS · NORTHWESTERN UNIVERSITY AT CHICAGO · PI CIMINO, JAMES J, LUO, YUAN · 2021 to 2024
$4.9M
Linking VA and non-VA data to study the risk of suicide in chronic pain patients.R01MH121907 · NIMH · WEILL MEDICAL COLL OF CORNELL UNIV · PI OSLIN, DAVID W., PATHAK, JYOTISHMAN · 2020 to 2024
$3.6M
Using claims data to study the association between Alzheimer's disease and suicidal behaviorsR01MH119177 · NIMH · WEILL MEDICAL COLL OF CORNELL UNIV · PI PATHAK, JYOTISHMAN · 2019 to 2022
$3.3M
4/4: Leveraging EHR-linked biobanks for deep phenotyping, polygenic risk score modeling, and outcomes analysis in psychiatric disordersR01MH121922 · NIMH · WEILL MEDICAL COLL OF CORNELL UNIV · PI PATHAK, JYOTISHMAN · 2019 to 2023
$2.0M
Modeling the Incompleteness and Biases of Health DataR01LM013337 · NLM · NORTHWESTERN UNIVERSITY AT CHICAGO · PI LUO, YUAN · 2020 to 2023
$1.3M
NCATS NIH HHS U01 TR003528NIGMS NIH HHS R01 GM105688NIMH NIH HHS R01 MH119177NIMH NIH HHS R01 MH121907NIMH NIH HHS R01 MH121922
6 · The paper itself

Abstract

objectivesTo develop and validate a standards-based phenotyping tool to author electronic health record (EHR)-based phenotype definitions and demonstrate execution of the definitions against heterogeneous clinical research data platforms. MATERIALS AND

methodsWe developed an open-source, standards-compliant phenotyping tool known as the PhEMA Workbench that enables a phenotype representation using the Fast Healthcare Interoperability Resources (FHIR) and Clinical Quality Language (CQL) standards. We then demonstrated how this tool can be used to conduct EHR-based phenotyping, including phenotype authoring, execution, and validation. We validated the performance of the tool by executing a thrombotic event phenotype definition at 3 sites, Mayo Clinic (MC), Northwestern Medicine (NM), and Weill Cornell Medicine (WCM), and used manual review to determine precision and recall.

resultsAn initial version of the PhEMA Workbench has been released, which supports phenotype authoring, execution, and publishing to a shared phenotype definition repository. The resulting thrombotic event phenotype definition consisted of 11 CQL statements, and 24 value sets containing a total of 834 codes. Technical validation showed satisfactory performance (both NM and MC had 100% precision and recall and WCM had a precision of 95% and a recall of 84%).

conclusionsWe demonstrate that the PhEMA Workbench can facilitate EHR-driven phenotype definition, execution, and phenotype sharing in heterogeneous clinical research data environments. A phenotype definition that integrates with existing standards-compliant systems, and the use of a formal representation facilitates automation and can decrease potential for human error.

Indexed as

Electronic Health RecordsPolyhydroxyethyl MethacrylateHumansLanguagePhenotypePolyhydroxyethyl Methacrylatecohort identificationCQLEHR-driven phenotypingFHIR

Identifiers

PMID35799370
PMCPMC9382394

What OpenQuestion holds

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Registered trials

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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.