Pharmacogenomic Testing

Leverage genetic testing to predict a patient’s response to a drug and achieve therapeutic efficacy.

Pharmacogenomics Test Highlight

Dihydropyrimidine Dehydrogenase (DPYD), 2012166

ARUP Laboratories has added six DPYD variant alleles to its clinical pharmacogenomic genotyping assays to align with new recommendations from the Association for Molecular Pathology (AMP) Clinical Practice Committee’s Pharmacogenomics (PGx) Working Group. DPYD testing now includes nine variant alleles in total.

DPYD encodes the DPD protein, which metabolizes fluoropyrimidines (e.g., fluorouracil [5-FU]) that are used to treat many cancers. PGx assays can identify individuals who have elevated risk for fluorouracil toxicity, preventing life-threatening adverse effects.

DPYD is also offered as a combined test with UGT1A1, Dihydropyrimidine Dehydrogenase (DPYD) and UPD Glucuronosyltransferase 1A1 (UGT1A1) Genotyping (3017866).

 

“At ARUP, we provide affordable, high throughput pharmacogenomic testing based on genes with the highest level of evidence. Our priority is to provide results that will effectively help clinicians manage their patients’ treatment plans.”

Sherin Shaaban, MD, PhD, MSci, FACMG ARUP Medical Director of Pharmacogenomics and Molecular Genetics

Benefits of Pharmacogenomic Testing

Pharmacogenomic (PGx) testing assesses genetic variants that are associated with an individual’s drug response or drug disposition and can inform optimal drug selection and dosage

  • Prevents Adverse Reactions

    Genotype-guided treatment using pharmacogenomic testing significantly reduces the incidence of clinically relevant adverse drug reactions.1

  • Reduces Cost

    Systematic review of studies that assessed the cost-effectiveness of pharmacogenomic testing for drugs with existing guidelines concluded that pharmacogenomic testing was either cost-effective or cost-saving.2

  • Expedites Therapeutic Success

    • Accelerates time to therapeutic success with biomarker-guided therapy
    • Improves patient compliance with drug therapies
  • A recent study3 involving members of the Kentucky Teachers’ Retirement System found that the use of pharmacogenomics testing resulted in:
    • 6.8% reduction in emergency department visits
    • 14.9% reduction in inpatient visits
    • $218.34 reduction in direct medical charges (per member, per month)
    • $7,000 reduction in direct medical charges per patient in a 32-month period
    • $37 million in cumulative savings in a 32-month period

Why Choose ARUP?

ARUP provides pharmacogenomic testing for most gene-drug pairs with high levels of evidence and actionable clinical guideline recommendations.

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Expert Consultation

Consult with our medical directors on test selection and result interpretation.

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Clinical Relevance

Access testing curated for maximum clinical relevance that includes genes with the highest levels of evidence.

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Enhanced Reporting

Opt for additional reporting that provides drug-dosing guidelines based on your patient’s genetic profile.

Reports for the Cytochrome P450 Genotype Panel, with GeneDose Access (3004255) and Pharmacogenetics Panel: Psychotropics, with GeneDose Access (3006366) include access to detailed enhanced reports, supplied in conjunction with Coriell Life Sciences on their GeneDose LIVE site. These reports are designed to assist clinicians in the interpretation and application of genetic test results for their patients. The GeneDose LIVE report provides the genotype of the patient and contains a medication summary with a list of medications that can be prescribed with standard precautions, those for which a dosage alteration or change in medication is recommended, and those for which an alternative is strongly suggested. The clinical evidence for each recommendation is marked as strong, moderate, or emerging.

 

Resources

Ordering recommendations for pharmacogenomic testing are currently based on specific drugs:

Testing recommendations are endorsed/promoted by professional societies in some cases:

References

  1. Swen JJ, van der Wouden CH, Manson LE, et al. A 12-gene pharmacogenetic panel to prevent adverse drug reactions: an open-label, multicentre, controlled, cluster-randomised crossover implementation study. Lancet. 2023;401(10374):347-356.
  2. Morris SA, Alsaidi AT, Verbyla A, et al. Cost effectiveness of pharmacogenetic testing for drugs with Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines: a systematic review. Clin Pharmacol Ther. 2022;112(6):1318-1328.
  3. Jarvis JP, Peter AP, Keogh M, et al. Real-world impact of a pharmacogenomics-enriched comprehensive medication management program. J Pers Med. 2022;12(3):421.