Journal of Clinical Case Reports

Thrive Family Medicine, Greenville, SC, USA

Publications

• Case Report   
  The Utility of Pharmacogenetics in a Patient with Terminal Illness: A Case Report
  Author(s): 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 recept.. Read More»
  DOI: 10.37421/2165-7920.2023.13.1556

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