Exploring beyond diagnoses in electronic health records to improve discovery: a review of the phenome-wide association study.

ABSTRACT:

Objective

The phenome-wide association study (PheWAS) systematically examines the phenotypic spectrum extracted from electronic health records (EHRs) to uncover correlations between phenotypes and exposures. This review explores methodologies, highlights challenges, and outlines future directions for EHR-driven PheWAS.

Materials and methods

We searched the PubMed database for articles spanning from 2010 to 2023, and we collected data regarding exposures, phenotypes, cohorts, terminologies, replication, and ancestry.

Results

Our search yielded 690 articles. Following exclusion criteria, we identified 291 articles published between January 1, 2010, and December 31, 2023. A total number of 162 (55.6%) articles defined phenomes using phecodes, indicating that research is

SUBMITTER: Wan NC 

PROVIDER: S-EPMC11879097 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature