Phenome-wide association studies as a research tool for identifying new pathogenetic links

The accumulation of biospecimens associated with large-scale clinical data (data from electronic medical records, epidemiological and other large-scale studies) has made it possible to conduct studies aimed at studying associations between genetic variants and phenotypes, in particular, phenome-wide association studies (PheWAS). It was originally designed to test one or more genetic variants associated with a disease or clinical symptom for associations with other phenotypes. PheWAS can identify novel genetic and phenotypic associations, differentiate true pleiotropy and clinical comorbidity, identify new disease subtypes, and identify new drug targets. Future efforts to integrate broad and robust phenotypic data collection and improve PheWAS tools will provide a valuable resource for more efficient genome-phenome analysis, leading to new discoveries in personalized medicine.