Журнал клинических случаев

The Utility of Pharmacogenetics in a Patient with Terminal Illness: A Case Report

Abstract

Lindsey Cecil, Daniel Dowd, Seema Patel and David S Krause*

Pharmacogenetics (PGx) is an emerging science which looks at genetic factors (pharmacogenes) that can influence drug tolerability and efficacy, depending upon variations in the resulting proteins function or structure. Variants of certain pharmacogenes can increase the risk of side effects, affect drug exposure and help predict likelihood of efficacy or inefficacy. The prevalence of such genetic mutations varies by ancestry and is not equally distributed in populations. Commercial PGx assays typically evaluate both pharmacokinetic (PK) and pharmacodynamic (PD) genes. Pharmacokinetic genes, such as those coding for the cytochrome P450 enzyme superfamily, have been shown to affect drug exposure and influence the absorption and metabolism of many drugs used across multiple disease states. Pharmacodynamic genes typically encode for proteins that are more often drug targets, such as receptors. They are more related to drug sensitivity or response without providing any dosing guidance. In general, PK genes are considered more actionable than PD genes. We present a complex case in which multiple genetic variants provided insights into the patients previous care and future management.