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Pharmacogenomics is the genomic profiling of patients for genetic variants that clinically modify the tolerability and desired effect of specific medications. Patients who carry functional gene variants may have increased or decreased capacity to metabolise medications upon exposure. Some genetic variants, such as those occurring in the cytochrome P450 (CYP) genes, have an impact on multiple medications across different drug classes. Other gene–drug pairs are more specific, such as uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1)–irinotecan or dihydropyrimidine dehydrogenase (DPYD)–fluoropyrimidine chemotherapy. Pharmacogenomics represents a multidisciplinary collaborative endeavour, including both clinical pharmacology and clinical pathology disciplines as well as various clinicians, with the shared goal of improving health care delivery for patients through individualisation of prescribing and patient care.

This MJA perspective shares more.

Learning Outcomes

1. Explain key components of the perspective
2. List main findings
3. Outline the reasons to elevate the quality care offered to patients.

Details

Author: Cassandra White, Rodney Scott, Christine L Paul and Stephen P Ackland

Article Type: Perspective