UW NW PSUUTHSCVANDYThis is an interesting evolution of the traditional genome-wide association study (GWAS), where researchers sleuth for common mutations in the DNA of people with the same condition, a new method, Phenome-wide Association studies (PWAS), reverses the GWS process by beginning with a gene mutation and then scrubs Electronic Medical Records (EMRs) for possible links between the variant and disease.

Published in Nature Biotechnology, researchers from Vanderbilt, Mayo Clinic, University of Washington, Northwestern, Penn State, and the University of Texas Health Science Center contributed to this Proof-of-Concept PWAS where genotype data from 13,835 individuals of European descent, exhibiting 1,358 diseases collectively had 3,144 single-nucleotide polymorphisms (SNP’s) analyzed, checking each SNP’s association with each of the 1,358 disease phenotypes. The authors reported 63 previously unknown SNP-disease associations.

The validation of this EMR-PWAS model may ultimately provide drug developers a new tool, whereby the identification of the genetic causes of disease may illuminate potentially new druggable targets.

Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data