# Preventing adverse drug reactions and more: current clinical use of pharmacogenetic testing

**Authors:** Ursula Amstutz

PMC · DOI: 10.1515/medgen-2025-2019 · Medizinische Genetik · 2025-07-17

## TL;DR

This review discusses how genetic testing can help prevent bad drug reactions and improve treatment by tailoring therapies to individual genetic profiles.

## Contribution

The paper highlights the shift from single-gene to panel-based pharmacogenetic testing for better clinical outcomes.

## Key findings

- Panel-based pharmacogenetic testing can significantly reduce adverse drug reactions.
- Clinical guidelines increasingly use genotype-based therapy recommendations.
- Resources for interpreting pharmacogenetic tests are expanding.

## Abstract

Genomic variants affecting an individual’s response to drug therapies are common in populations worldwide. For clinical use, information on pharmacogenomic variation is translated into genotype-based therapy recommendations in evidence-based clinical practice guidelines for an increasing number of drugs. While clinical pharmacogenetic testing is currently still frequently performed at the level of individual genes, recent evidence highlighted the potential of a panel-based testing approach to substantially reduce the incidence of adverse drug reactions. This review provides background on pharmacogenetics, nomenclature used for reporting pharmacogenetic test results, as well as an overview of available resources for pharmacogenetic test interpretation.

## Full-text entities

- **Genes:** PPIG (peptidylprolyl isomerase G) [NCBI Gene 9360] {aka CARS-Cyp, CYP, SCAF10, SRCyp}, CYP2C9 (cytochrome P450 family 2 subfamily C member 9) [NCBI Gene 1559] {aka CPC9, CYP2C, CYP2C10, CYPIIC9, P450-2C9, P450IIC9}, CYP2D7 (cytochrome P450 family 2 subfamily D member 7 (gene/pseudogene)) [NCBI Gene 1564] {aka CYP2D, CYP2D7AP, CYP2D7P, CYP2D7P1, CYP2D@, P450C2D}, TPMT (thiopurine S-methyltransferase) [NCBI Gene 7172] {aka TPMTD}, DPYD (dihydropyrimidine dehydrogenase) [NCBI Gene 1806] {aka DHP, DHPDHASE, DPD, DYPD}, HLA-A (major histocompatibility complex, class I, A) [NCBI Gene 3105] {aka HLAA}, CYP2C19 (cytochrome P450 family 2 subfamily C member 19) [NCBI Gene 1557] {aka CPCJ, CYP2C, CYPIIC17, CYPIIC19, P450C2C, P450IIC19}, CYP2D6 (cytochrome P450 family 2 subfamily D member 6 (gene/pseudogene)) [NCBI Gene 1565] {aka CPD6, CYP2D, CYP2D7AP, CYP2D7BP, CYP2D7P2, CYP2D8P2}, UGT1A1 (UDP glucuronosyltransferase family 1 member A1) [NCBI Gene 54658] {aka BILIQTL1, GNT1, HUG-BR1, UDPGT, UDPGT 1-1, UGT1}
- **Diseases:** adverse drug reactions (MESH:D064420), colorectal and other gastric cancers (MESH:D013274), Breast cancer (MESH:D001943), COVID (MESH:D000086382), inflammation (MESH:D007249), tumour (MESH:D009369), acute coronary syndrome (MESH:D054058), fever (MESH:D005334), drug-induced liver injury (MESH:D056486), gastrointestinal and respiratory symptoms (MESH:D012818), NM (MESH:C537354), rash (MESH:D005076), drug reactions (MESH:D004342)
- **Chemicals:** mavacamten (MESH:C000605992), fluoropyrimidine (-), codeine (MESH:D003061), tegafur (MESH:D005641), thiopurines (MESH:C520399), phenytoin (MESH:D010672), carbamazepine (MESH:D002220), serotonin (MESH:D012701), tamoxifen (MESH:D013629), streptomycin (MESH:D013307), allopurinol (MESH:D000493), 5-fluorouracil (MESH:D005472), abacavir (MESH:C106538), endoxifen (MESH:C055492), capecitabine (MESH:D000069287), flucloxacillin (MESH:D005436), clopidogrel (MESH:D000077144)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Mutations:** c.1601G>A, c.1236G>A, c.1679T>G, (AUC) of 20-30

## Full text

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## Figures

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## References

51 references — full list in the complete paper: https://tomesphere.com/paper/PMC12268254/full.md

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Source: https://tomesphere.com/paper/PMC12268254