Pulse Brain · Growing Health Evidence Index
Tier 3 — Observational / field trialPeer-reviewed

PheKB: a catalog and workflow for creating electronic phenotype algorithms for transportability

Jacqueline Kirby, Peter Speltz, Luke V. Rasmussen, Melissa Basford, Omri Gottesman, Peggy Peissig, Jennifer A. Pacheco, Gerard Tromp, Jyotishman Pathak, David Carrell, Stephen B. Ellis, Todd Lingren, Will K Thompson, Guergana Savova, Jonathan L. Haines, Dan M. Roden, Paul A. Harris, Joshua C. Denny

Journal of the American Medical Informatics Association · 2016

Read source ↗ All evidence

Summary

This paper presents PheKB (Phenotype KnowledgeBase), a centralised online platform enabling researchers to develop, share, and validate electronic phenotype algorithms for mining electronic health record data. The work demonstrates that phenotype algorithms—particularly those using ICD codes, medications, and natural language processing—achieve high positive predictive values (median 96–97.5%) and are transportable across different healthcare systems, supporting reproducible, research-grade phenotyping at scale.

UK applicability

Whilst this tool was developed and evaluated within United States healthcare systems, the underlying methodology for algorithm transportability and validation could be relevant to UK biobank and NHS data research initiatives, though implementation would require adaptation to UK data standards and NHS information governance frameworks.

Key measures

Positive predictive values (PPVs) for cases and controls at authoring vs. implementation sites; algorithm component frequencies (ICD codes, medications, natural language processing); number of algorithm views and reuses

Outcomes reported

The study reported the status and impact of PheKB, an online repository containing 30 finalised and 62 in-development phenotype algorithms, and analysed the performance of these algorithms when applied across different healthcare institutions.

Theme
Measurement & metrics
Subject
Measurement methods & nutrient profiling
Study type
Research
Study design
Methods paper / repository status report
Source type
Peer-reviewed study
Status
Published
Geography
United States
System type
Human clinical
DOI
10.1093/jamia/ocv202
Catalogue ID
BFmoso8xrl-u78qtp

Topic tags

Pulse AI · ask about this record

Dig deeper with Pulse AI.

Pulse AI has read the whole catalogue. Ask about this record, its theme, or how the findings apply to UK farming and policy — every answer cites the underlying studies.