eMERGE Pharmacogenetic Sequencing Pilot Project

The Pharmacogenetic Research Network (PGRN) and eMERGE consortia have partnered to conduct innovative research using a targeted resequencing platform to interrogate 84 very important pharmacogenes in patients accessible through the eMERGE Network’s clinical care setting. At Mount Sinai, we leverage the existing IPM/eMERGE phenotyping and BioMe Biobank research infrastructure to identify and enroll subjects. PGRN developed a platform for sequencing 84 selected (very important) ‘pharmacogenes’, referred to as ‘PGRN-seq.’ This gene panel covers variants for so-called Tier 1 ‘actionable’ variants/drug-gene pairs, including clopidogrel-CYP2C19, warfarin-CYP2C9/VKORC1, and simvastatin-SLCO1B1. We will establish PGRN-seq in our New York State/CLIA certified Mount Sinai Genetic Testing Laboratory (GTL) (Stuart Scott, Director) and validate against Tier 1 genotyping assays that are currently NYS/CLIA-approved in the GTL using other molecular platforms. Pharmacogenetic clinical decision support for the eMERGE-PGRN Sequencing project at Mount Sinai will be enabled through IPM’s CLIPMERGE Platform.