July 7, 2019  |  

Precision medicine and rare genetic variants.

Authors: Lauschke, Volker M and Ingelman-Sundberg, Magnus

Interindividual variability in drug metabolism and drug toxicity persists as a major problem for drug development and treatment. Increased or decreased capacity for drug elimination or drug action reduces drug efficacy and places substantial economic burdens on society (e.g., due to treatment of adverse drug reactions) [1]. To a great extent this variation is based on genetic differences, and indeed many drugs now carry pharmacogenomic labels regarding mandatory or informative genetic tests that have to/can be performed before prescription (http://www.fda.gov/drugs/ scienceresearch/researchareas/pharmacogenetics/ucm083378.htm).Theselabelsarebasedonthe most common allelic variants in germline or somatic genes with importance for drug metabolism that encode phase I or phase II enzymes, transporters, or drug targets. In many cases, particularly in oncology, these labels are major determinants of successful treatment. However, the question arises of to what extent these labels are useful for future precision medicine encompassing specific patients carrying mutations not commonly seen in the whole population.

Journal: Trends in pharmacological sciences
DOI: 10.1016/j.tips.2015.10.006
Year: 2016

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