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Updated: Aug 19, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Leveraging clinical decision support to reduce the risk of discordant pharmacogenomics results
Amanda Massmann1,2, Joel Van Heukelom1,2, Chad Larson1,3
1Sanford Imagenetics, Sanford Health, Sioux Falls, SD 57105, USA.
Abstract:
Pharmacogenomics (PGx) testing is commonly utilized to predict a patient's response to medications based on the presence of genetic variants. However, certain conditions have been associated with potentially inaccurate PGx results. The majority of medications are predominantly metabolized in the liver; therefore, in the case of liver transplantation, PGx results may be misinterpreted in the context of drug-metabolizing enzymes. Other instances of ambiguous PGx results have been reported in the literature in conditions such as allogeneic stem cell or bone marrow transplant, chronic lymphocytic leukemia, acute or chronic myeloid leukemia and blood transfusion. In order to prevent potential inaccuracies in PGx testing, Sanford Imagenetics developed an active, interruptive alert to inform providers of the potential for inaccurate PGx results.
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