Genomic medicine gives hope for patient-specific therapies. Genome-wide association studies (GWASs) elucidate genetic markers that improve understanding of risks and causes for many diseases and may guide therapy on a patient-specific basis. They will take another approach to identify gene-disease associations. “Reverse GWAS” or phenome-wide association studies (PheWASs) determine which phenotypes are associated with a given genotype. The first PheWAS performed in 20101 has provided a systematic approach to analyze many phenotypes potentially associated with a specific genotype and an ability to identify pleiotropy. A recent availability of a large DNA biobank coupled to a de-identified copy of the electronic medical record enable us to integrate genomic data with various phenotypes. Like a ping-pong match, GWASs and PheWASs are complementary, with the ability to replicate and validate others' findings. Denny et al. 2 found that PheWASs replicated 210 of the 751 (28%) single-nucleotide polymorphism (SNP)-phenotype associations from the National Human Genome Research Institute's GWAS catalog, including 66% of those associations that were adequately powered to detect the association. They also identified 63 potentially novel SNP-disease associations, demonstrating pleiotropic effects of the variants.
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