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Clinical implementation of pharmacogenomics dosing guidelines using whole genome sequencing as input data

Wednesday, October 10, 2012 — Poster Session II

Noon – 2:00 p.m

Natcher Conference Center, Building 45




  • V Huser
  • JJ Cimino


Pharmacogenomics, the study of genomic factors that influence an individual's response to drug is believed to be one of the key drivers for increased adoption of pre-emptive genetic testing. A new effort to develop pharmacogenomics dosing guidelines (PDGs) attempts to integrate and maintain current existing pharmacogenomics knowledge relevant to a given drug or drug class. Clinical Pharmacogenetics Implementation Consortium (CPIC) developed and published five such dosing guidelines since January 2011 when this initiative was announced. Current and potential updated versions of CPIC guidelines have electronic knowledge base representation within the pharmacogenomics internet database. We set out to investigate to what extent the existing CPIC guidelines can be applied when the input genetic data comes from whole genome sequencing (WGS) rather than genotyping arrays. Many reports indicate that WGS may replace genotyping when cost will decline and considering the WGS’s potential to replace multiple genotyping probes. We use a set of 69 genomes in Variant Call Format (VCF) from Complete Genomics data repository to produce pharmacogenomics decision support recommendations. Our preliminary findings suggest several possible improvements to existing PDGs (e.g., clear terminology-based identification of interacting drug or drug class) and current electronic health record systems.

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