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Putting the PGx in PGxome

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Putting the PGx in PGxome

PGxomeTMPreventionGenetics’ whole exome sequencing test just got better! In addition to our regular options for PGxome, pharmacogenetic results are now available for both PGxome Diagnostic and PGxome Health Screen.

Adverse drug events (ADEs) not only significantly impact patient morbidity and mortality, but also cost the healthcare system many millions each year (Hug et al. 2012; Sultana et al. 2013). Scientific advances in genetics over the past decade have resulted in a better understanding of how genetic variants influence drug response. This has led to an increase in the number of clinically-available pharmacogenetic tests for a number of regularly prescribed drugs. The value of pharmacogenetic testing is further emphasized by the goals of the precision medicine initiative

While evidence to support uptake of pharmacogenetic testing exists for many drugs, implementation of such tests has been gradual, likely due to concerns about broader clinical utility (Moaddeb & Haga 2013). To address these issues, our pharmacogenetics option for PGxome  reports only variants for 15 well-documented, actionable pharmacogenetic genes. Genes currently tested as part of PGxome pharmacogenetic option are CYP2C19, CYP3A5, DPYD, G6PD, IFNL4, SLCO1B1, UGT1A1, ANKK1, CYP2B6, TPMT, NUDT15, CYP2C9, VKORC1, CYP4F2, GGCX. Reportable genes were selected based on evidence supporting gene-drug interactions (, allowing for: 

  • Accurate dosing
  • Increased efficacy of treatment
  • Prevention of adverse events

Further gene and variant details can be found in our PGxome Test Descriptions.

Different from allele-specific genotyping, our pharmacogenetics option is based on full gene sequencing, which  detects rare or previously undiscovered loss of function variants (e.g., nonsense, splicing and frameshift insertions/deletions) in addition to well-documented pharmacogenetic variants. We will not report variants of uncertain significance (VUS) in pharmacogenetic genes. Ensuring the highest quality, the interpretation of and terminology used for identified pharmacogenetic findings are based on CPIC guidelines, PharmGKB, workgroup recommendations, and peer-reviewed literature (Caudle et al. 2016; Kalman et al. 2015).

We put the PGx in PGxome; now it’s your turn to put us to the test!


Caudle et al. 2016. Genetics in Medicine. PubMed ID: 27441996

Hug et al., 2012. PubMed ID: 22435229

Kalman et al. 2015. Clin Pharmacol Ther. 99(2): 172-85. PubMed ID: 26479518

Moaddeb & Haga. 2013. Ther Adv Drug Saf. 4(4): 155–169. PubMed ID: 24020014

Sultana et al., 2013. PubMed ID: 24347988