Mayo Clinic Laboratories > Therapeutics > Precision therapeutics > Pharmacogenomics

Pharmacogenomics

Precise, personalized therapy

From managing mood disorders to evaluating for treatment-related toxicity, incorporating pharmacogenomic testing into clinical practice can identify genetic variation associated with adverse drug reactions and help guide the selection of medication for those with metabolic variations that impact treatment efficacy.

Our PGx testing is developed in accordance with practice guidelines established by the Clinical Pharmacogenetics Implementation Consortium (CPIC) for the use of PGx testing in clinical care. Offering superior analytical and clinical quality, our assays enable targeted detection of more clinically actionable alleles, including variants found in populations with diverse ancestry,1 compared to other testing.

99%

99% of individuals carry clinically actionable variants affecting medication absorption, distribution, metabolism, and excretion2

Pharmacogenomic test menu

Panel testing Panel testing
Single gene testing Single gene testing
Human leukocyte antigen (HLA) genetic variation Human leukocyte antigen (HLA) genetic variation

Panel testing

Results from our comprehensive panel can increase understanding of an individual’s genetic makeup to help personalize dosing decisions.

More information

Increase your PGx IQ

Understanding the myriad implications PGx testing has on patient treatment outcomes is integral to harnessing the full power of this emerging field. To educate providers about current and future PGx applications, Mayo Clinic offers a one-of-a-kind online certificate course that guides attendees through foundational pharmacogenomics concepts and advanced decision-making. Engaging lectures, expert panels, case-based presentations, and patient role-play activities educate attendees on pharmacogenomics fundamentals, test interpretation, and tips on implementing pharmacogenomics into their practice.

Key testing

  • PSYQP | Psychotropic Pharmacogenomics Gene Panel, Varies
    • Examines 23 genes (141 alleles) used to assess approximately 80 medications.
    • Identifies variations in genes known to be associated with response and/or risk of toxicity with psychotropic medications.
  • PGXQP | Focused Pharmacogenomics Panel, Varies
    • Examines 10 genes (82 alleles) used to assess more than 85 medications.
    • Delivers preemptive or reactive genotyping of patients for pharmacogenetics purposes.
    • Provides assessments for genes with strong drug phenotype associations.
Learn more PGx testing can be combined with therapeutic drug monitoring to optimize the treatment and management of mood disorders.

Highlights

Focused Pharmacogenomics Panel [Test in Focus]

Ann Moyer, M.D., Ph.D., explains Mayo Clinic Labs’ new focused pharmacogenomics panel, a real-time, PCR-based testing approach that assesses 10 genes known for their drug-gene associations, to provide guidance on medication selection for patients across a variety of specialities.

Learn more

Single gene testing

Inter-individual differences in tricyclic antidepressants (TCAs) and selective serotonin reuptake inhibitors (SSRIs) pharmacokinetic parameters and treatment outcomes are associated with CYP2D6 and CYP2C19 genetic variants. With some drugs being affected by CYP2D6 only (e.g., amitriptyline) and others by both polymorphic enzymes (e.g., clomipramine), focused testing is recommended.

Known drug-gene associations

  • SSRIs: citalopram, escitalopram, fluvoxamine, paroxetine, sertraline
  • TCAs: amitriptyline, clomipramine, desipramine, doxepin, imipramine, nortriptyline, trimipramine

Key testing

Human leukocyte antigen (HLA) genetic variation

Human leukocyte antigen (HLA) genetic variation is implicated in the development of specific cutaneous adverse reactions to aromatic anticonvulsants. To reduce the incidence of serious, and sometimes fatal, cutaneous adverse reactions to carbamazepine and oxcarbazepine, identifying carbamazepine response and hypersensitivity through HLA-B*15:02 and HLA-A*31:01 genotyping is recommended.5

Known drug-gene associations

  • The variant allele HLA-B*15:02 is strongly associated with greater risk of Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) in patients treated with carbamazepine or oxcarbazepine.
  • The variant allele HLA-A*31:01 is associated with greater risk of maculopapular exanthema, drug reaction with eosinophilia and systemic symptoms, and SJS/TEN in patients treated with carbamazepine.

Key testing

References
  1. Lopes JL, Harris K, Karow MB, et al. Targeted genotyping in clinical pharmacogenomics: what is missing? J Mol Diagn. 2022;24(3):253-261. doi:10.1016/j.jmoldx.2021.11.008
  2. Wang L, Scherer SE, Bielinski SJ, et al. Implementation of preemptive DNA sequence-based pharmacogenomics testing across a large academic medical center: The Mayo-Baylor RIGHT 10K Study. Genet Med. 2022;24(5):1062-1072. doi:10.1016/j.gim.2022.01.022
  3. Hicks JK, Sangkuhl K, Swen JJ, et al. Clinical pharmacogenetics implementation consortium guideline (CPIC) for CYP2D6 and CYP2C19 genotypes and dosing of tricyclic antidepressants: 2016 update. Clin Pharmacol Ther. 2017 Jul; 102:1, 37-44. TCA 2016 (cpicpgx.org)
  4. Hicks JK, Bishop JR, Sangkuhl K, et al. Clinical pharmacogenetics implementation consortium (CPIC) guideline for CYP2D6 and CYP2C19 genotypes and dosing of selective serotonin reuptake inhibitors. Clin Pharmacol Ther. 2015 Aug; 98:2, 127-134. 25974703 (cpicpgx.org)
  5. Phillips E, Sukasem C, Whirl-Carrillo M, et al. Clinical pharmacogenetics implementation consortium guideline for HLA genotype and use of carbamazepine and oxcarbazepine: 2017 update. Clin Pharmacol Ther. 2018 March. CPIC HLA CBZ OXC (cpicpgx.org)
INTERESTED IN LEARNING MORE?

Fill out the form below and one of our specialists will be in touch.