Pharmacogenomics in the Age of GWAS, Omics Atlases, and PheWAS

TL;DR

This paper discusses how integrative omics, biobank data, and AI are transforming pharmacogenomics, enabling the design of thousands of genetic tests for personalized medicine through a proposed pharmacophenomic atlas.

Contribution

It introduces a vision for a pharmacophenomic atlas that integrates omics data, PheWAS, and AI to automate genetic test design for clinical use.

Findings

Assessment of recent epigenome and spatial genome datasets for pipeline improvement

Proposal of a new framework for genetic test design using integrated omics and AI

Vision for an automated pharmacophenomic atlas for clinical deployment

Abstract

The search for causative pharmacogenomic loci is being transformed by integrative omics pipelines, but their outputs have only begun being applied to test design. We assess the direction of the field in light of Biobanks/PheWAS, omics atlases, and AI. We first assess the potential of recent epigenome and spatial genome concepts, datasets, and methods to improve the functionality of PIP-style pipelines. We then discuss new potential methods of genetic test design on the basis of the outputs of such pipelines. We conclude with a vision for a pharmacophenomic atlas, in which omics atlas data, PheWAS associations, and biobank data would be used with AI to design thousands of genetic tests for clinical deployment in an automated parallel process.