Pharmacogenetics

Pharmacogenetics is an area of genetic testing that assesses the genes responsible for the way a body handles and responds to medications.

A common pharmacogenetics application is related to drug metabolic pathways (how a body breaks down or metabolizes drugs). Mutations in these pathways affect an individual’s response to medication. Mutations in the genes of these pathways can cause a patient to be unable to break down a drug or to break down a drug too quickly or extensively; these mutations can make a drug ineffective or lead to an adverse drug reaction.

Prevents Adverse Reactions

Genotype-guided treatment using pharmacogenomics 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 their drug therapies

A recent study of the Kentucky Teachers Retirement System found that using pharmacogenomics testing resulted in³:

• 8% reduction in emergency department visits
• 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 over 32 months
• $37 milion in cumulative savings over 32 months

Why Choose ARUP?

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

Expert Consultation

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

Clinical Relevance

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

Enhanced Reporting

Reports for the Cytochrome P450 Genotype Panel, with GeneDose Access  (ARUP test code 3004255) and Pharmacogenetics Panel: Psychotropics, with GeneDose Access (ARUP test code 3006366) include access to detailed enhanced reports, supplied in conjunction with Coriell Life Sciences on their GeneDose LIVE site. The report is designed to assist clinicians in the interpretation and application of the 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 approached 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.

1. Jarvis JP, et al. Real-world impact of a pharmacogenomics-enriched comprehensive medication management program. J Pers Med. 2022;12(3):421.
2. Swen JJ, 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):347–56.
3. Morris SA, 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):1318–28.

Resources

• Pharmacogenetics Testing Information Brochure
• Germline Pharmacogenetics - PGx | Choose the Right Test (arupconsult.com)
• Pharmacogenetics Panel for Psychotropics | Test Fact Sheet (arupconsult.com)

Ordering recommendations in pharmacogenetics are currently based on specific drugs.

• PharmGkb Drug Labeling: Order recommendations included with drug labeling
• U.S. Food and Drug Administration: Table of Pharmacogenomic Biomarkers in Drug Labeling
• Clinical Pharmacogenetics Implementation Consortium (CPIC): Guidelines for genotype-based dosing

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

Guidelines for the Use of Antiretroviral Agents in Adults and Adolescents with HIV