Current Scope and Challenges in Phenome-Wide Association Studies

Abstract

Purpose of Review

Over many decades, researchers have been designing studies to investigate the relationship between genotypes and phenotypes to gain an understanding about the effect of genetics on disease. Recently, a high-throughput approach called phenome-wide associations studies (PheWAS) have been extensively used to identify associations between genetic variants and many diseases and traits simultaneously. In this review, we describe the value of PheWAS along with methodological issues and challenges in interpretation for current applications of PheWAS.

Recent Findings

PheWAS have uncovered a paradigm to identify new associations for genetic loci across many diseases. The application of PheWAS has been effective with phenotype data from electronic health records, epidemiological studies, and clinical trials data.

Summary

The key strength of PheWAS is to identify the association of one or more genetic variants with multiple phenotypes, which can showcase interconnections among the phenotypes due to shared genetic associations. While the PheWAS approach appears promising, there are a number of challenges that need to be addressed to provide additional robustness to PheWAS findings.

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