Considerations for safety pharmacogenetics in clinical practice
Related Experiment Video
Updated: May 29, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
1Medco Research Institute, LLC, 7315 Wisconsin Avenue, Bethesda, USA. felix_frueh@medco.com
Abstract:
The focus of treating an individual patient is the identification of the individual's specific needs. The measurement of the patient's characteristics, such as blood pressure or body temperature, and also the measurement of biomarkers, such as cholesterol or hemoglobin A1C is part of the patient's health assessment. The deeper the insights into the phenotypic and molecular characteristics of the patient, the better we are positioned to treat a patient. Increasingly, this assessment includes testing for certain pharmacologically relevant genetic variations (pharmacogenetics). Evaluating how the patient's genetic makeup combined with the patient's exposure to environmental influences could impact disease and treatment decisions is becoming the cornerstone of personalized medicine. However, we often use such assessments for finding the most 'effective' treatment, but we might not always be as rigorous in our assessment of potential safety risks. This is particularly apparent when looking at how safety risks are communicated. Often this information is only available as general, population-based statements and a small amount of information is available to evaluate whether or not an individual patient is at risk. Although pharmacogenetic tests that can help to assess whether an individual patient's personal risk exist (safety pharmacogenetics), they are not always performed.
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