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AMIA Jt Summits Transl Sci Proc. 2013 Mar 18;2013:81. eCollection 2013.

Providing pharmacogenomics clinical decision support using whole genome sequencing data as input.

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  • 1Laboratory for Informatics Development, Bethesda, MD, USA.


Pharmacogenomics(PGx) is believed to be the driver for adopting pre-emptive clinical genetic testing. We investigated two potential resources for enabling automated pharmacogenomic decision support. First, we analyzed pharmacogenomics dosing guidelines (PDGs) and how they might be executed to provide alerts for clinicians ordering drugs. Second, we use whole genome sequencing (WGS) data instead of genotyping arrays to obtain patients' genetic profiles. In a pilot study, we attempted to generate clinical recommendations (based on PDGs) for 69 patients whose genomes were obtained from a public data set provided by Compete Genomics. We report on the generated recommendations and the additional variations detected by WGS that are not well addressed by existing guidelines.

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