Learning Opportunities for Drug Repositioning via GWAS and PheWAS Findings

AMIA Jt Summits Transl Sci Proc. 2018 May 18;2017:237-246. eCollection 2018.


Drug repositioning for available medications can be preferred over traditional drug development, which requires substantially more effort to uncover new insights into medications and diseases. Genome-Wide Association Studies (GWAS) and Phenome-Wide Association Studies (PheWAS) are two complimentary methods for finding novel associations between genes and diseases. We hypothesize that discoveries from these studies could be leveraged to find new targets for existing drugs. Thus, we propose a framework to learn opportunities for inferring such relationships via overlapped genes between disease-associated genes (e.g. GWAS and PheWAS findings) and drugtargeted genes. We use drug indications found in Medication Indication Resource (MEDI) as a gold standard to evaluate if drug indications learned from GWAS and PheWAS findings have clinical indications. We examined 151,011 <drug, GWAS phenotype> pairs from 987 drugs across 153 diseases and 763 pairs were statistically significant. Out of these 763 pairs, 16 of them were found to have clinical indications.