A multi-center pilot of pharmacogenetic sequencing in clinical practice
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eMERGE-PGx is a multi-site test of the concept that genetic sequence information can be coupled to electronic medical records (EMRs) for use in healthcare. The promise of personalized medicine – health care guided by each individual’s biological characteristics – is being fostered by increasingly powerful and economical methods to acquire clinically relevant biomarkers from large numbers of people. One therapeutic area that seems especially ripe for an early test of the personalized medicine concept is pharmacogenomics (PGx) – the idea that individual variation in drug response includes a genomic component. Drug response variation is an accepted feature of virtually all drug treatments, and contemporary molecular biologic tools continue to identify key genes mediating drug metabolism, transport, and targets. Importantly, common variation in these genes is an increasingly well-recognized contributor, sometimes with large effects, to variation in drug responses. As a result, recommendations for genotype-guided therapy are increasing. These evidence-based recommendations, if implemented in health care practice, could reduce adverse drug events and improve time to therapeutic response. Through eMERGE-PGx, we are developing strategies for the optimal implementation of genetic sequence data into the clinical environment with the ultimate goal of improving patient care.
Sequencing and phenotype data (demographics, medications, and ICD-9 and CPT codes) are being gathered into a variant repository. SPHINX, the Sequence, Phenotype, and Pharmacogenomics Integration Exchange (SPHINX) is a web-based tool for exploring these data for hypothesis generation, especially around drug response implications of genetic variation across the eMERGE PGx project cohort. Access SPHINX using the SPHINX tab at the top of this page.
See the Platform Poster presented at the Pacific Symposium of Biocomputing 2014 here.
At the heart of the eMERGE PGx project is the sequencing platform, PGRNSeq, developed by the PGRN Network. PGRNSeq was developed in a cooperation between Deep Sequencing Resources at the Baylor College of Medicine and the University of Washington to fully characterize the genetic variation across human populations in 84 Very Important Pharmacogenes (the VIP list of genes).
Implementation of well-established pharmacogenetic genotypes into the EHR, by eMERGE-PGx Site: