PGX

What is Pharmacogenetics?

Pharmacogenetics is the study of how genes affect a person’s response to drugs. This relatively new field combines pharmacology (the science of drugs) and genomics (the study of genes and their functions) to develop effective, safe medications and doses that will be tailored to a person’s genetic makeup.

Many drugs that are currently available are “one size fits all,” but they don’t work the same way for everyone. It can be difficult to predict who will benefit from a medication, who will not respond at all, and who will experience negative side effects (called adverse drug reactions).

Adverse drug reactions (ADRs) are a significant cause of hospitalizations and deaths in the United States and are a are a long-standing and largely neglected major medical problem. ADRs, often called side effects, are not medical errors as they occur within the FDA-approved dosage and labeling recommendations. The recently reported genetically-based problems with Plavix and codeine reported by the FDA are a prime example of specific drugs creating ADRs.

Researchers are learning how inherited differences in genes affect the body’s response to medications. These genetic differences are used to predict whether a medication will be effective for a particular person and to help prevent adverse drug reactions.

Financial Consequences of Adverse Drug Reactions

770,000

Over 770,000 people are injured or die each year in hospitals from ADRs.

$5,600,000

ADRs may cost up to $5.6 million each year per hospital depending on hospital size.

$5,600,000,000

National hospital expenses to treat patients who suffer ADRs during hospitalization range between $1.56 and $5.6 billion annually.

Additional Financial Consequences:

  • $289 billion in added health care costs per year.

  • Medication Adherence for Chronic Disease.

  • HMOs spend more treating ADRs than on drugs.

  • ADRs are the cost leader for malpractice payouts.

  • Up to one-third of drug prescriptions are not needed and therefore wasted.

Assurance of Patient Compliance is Actively Promoted Through Insurers and Government Payers

  • Adverse Drug Reactions (ADRs) are reduced by the practitioner being made aware of all medications the patient is taking both prescribed and non-prescribed ADRs cannot be predicted by patient characteristics or drug type.

  • Costs of ADRs include emergency department visits, hospitalizations and litigation.

  • Average costs for ADRs are up to $5,000 for outpatient and greater than $15,000 for inpatient occurrence.

Our Genetic Tests

What is Tested?

Cardiac

Heart Disease/Atrial Fibrillation

  • Atrial fibrillation

  • Beta-blockers, LVEF response

  • Caffeine metabolism

  • Coronary artery disease

  • Myocardial infarction

  • Simvastatin-induced myopathy

  • Verapamil and QTc interval

Peripheral Arterial Disease/Venous Thrombosis

  • Clopidogrel metabolism (Plavix)

  • Estrogen supplementation (risk of venous thrombosis)

  • Peripheral arterial disease

  • Venous thrombosis

  • Warfarin

Cardiovascular Health

  • ApoE and cardiovascular disease

  • Genetic risk for decreased folate

  • Genetic risk for decreased HDL cholesterol

  • Genetic risk for elevated LDL cholesterol

  • Genetic risk for elevated triglycerides

  • Sickle cell anemia

Mental Health

SSRI Antidepressants

Genes Analyzed:
CYP2D6, CYP3A4, SLC6A4, CYP2C19, HTR2A

Drug Class Description:58
Selective serotonin reuptake inhibitors (SSRIs) are prescribed to treat various psychiatric conditions, including depression, anxiety and personality disorders. SSRIs act by blocking the serotonin (5-HT) receptors in the brain1. Suboptimal responses can delay the use of effective medications and remission of symptoms2. Genetic differences can play ...

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SSRI Antidepressants

Genes Analyzed:
CYP2D6, CYP3A4, SLC6A4, CYP2C19, HTR2A

Drug Class Description:58
Selective serotonin reuptake inhibitors (SSRIs) are prescribed to treat various psychiatric conditions, including depression, anxiety and personality disorders. SSRIs act by blocking the serotonin (5-HT) receptors in the brain1. Suboptimal responses can delay the use of effective medications and remission of symptoms2. Genetic differences can play an important role in determining patient responses3.

  • Citalopram

  • Escitalopram

  • Fluoxetine

  • Fluvoxamine

  • Paroxetine

  • Sertraline

  • Vilazodone

SNRI Antidepressants

Genes Analyzed:
CYP2D6, CYP3A4, CYP2B6, SLC6A4

Drug Class Description:58
Serotonin and norepinephrine reuptake inhibitors (SNRIs) such as duloxetine, levomilnacipran and venlafaxine are primarily indicated for the treatment of major depressive disorder (MDD)4-7. Some SNRIs are also prescribed to treat anxiety disorders and neuropathic pain. SNRIs, like SSRIs, are second-generation antidepressants that are better tolerated than first-generation antidepressants such as tricyclic antidepressants (TCAs) and monoamine oxidase inhibitors (MAOIs)8.

  • Duloxetine

  • Levomilnacipran

  • Venlafaxine

TCA Antidepressants

Genes Analyzed:
CYP2D6, CYP2C19

Drug Class Description:58
Tricyclic antidepressants (TCAs) are prescribed to treat depression and various other psychiatric conditions9. TCAs act by blocking the neuronal uptake of norepinephrine and serotonin10; the binding of TCAs to cholinergic, alpha-adrenergic, serotonin and histamine receptors contributes to various side effects.

  • Amitriptyline

  • Clomipramine

  • Desipramine

  • Doxepin

  • Imipramine

  • Nortriptyline

  • Protriptyline

  • Trimipramine

Other Antidepressants

Genes Analyzed:
CYP2D6, CYP3A4, CYP2B6, SLC6A4

Drug Class Description:58
Other antidepressants that are used to treat depression and anxiety disorders include: Bupropion – a norepinephrine and dopamine reuptake inhibitor (NDRI) and a non-competitive antagonist of the nicotine receptors11, 12; Buspirone – an anti-anxiety medication unrelated to benzodiazepines13; Mirtazapine – a commonly prescribed second-generation tetracyclic antidepressant that inhibits adrenergic alpha2-autoreceptors and serotonin 5-HT2 and 5-HT3 receptors14, 15; nefazodone – a phenylpiperazine antidepressant not related to SSRIs, TCAs and monoamine oxidase inhibitors, and blocks the serotonin 5-HT2 receptors16, 17; trazodone – a serotonin antagonist and a serotonin reuptake inhibitor (SARI) related to nefazodone18, 19; vortioxetine – a multimodal antidepressant that can be a useful alternative to serotonergic antidepressants for some patients who are partial responders or non-responders20, 21.

  • Bupropion

  • Buspirone

  • Mirtazapine

  • Nefazodone

  • Trazodone

  • Vortioxetine

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ADHD Medication (NE reuptake inhibitor)

Genes Analyzed:
CYP2D6

Drug Class Description:58
Atomoxetine is indicated for the treatment of attention deficit/hyperactivity disorder (ADHD) among children, adolescents and adults. It is a potent and selective inhibitor of the pre-synaptic norepinephrine transporter with minor affinity for serotonin and dopamine transporters29.

  • Atomoxetine

Benzodiazepines

Genes Analyzed:
CYP2C19, CYP3A5

Drug Class Description:58
Benzodiazepines (BDZ) are a class of drugs primarily used for treating seizures, but they also are effective in treating epilepsy, panic disorders and various other disorders30. The exact mechanism of action of BDZs is not known, but they appear to work by affecting neurotransmitters like gamma-aminobutryic acid (GABA) in the brain.

  • Clobazam

  • Diazepam

  • Alprazolam

Mood Stabilizers

Genes Analyzed:
HLA-A, HLA-B, UGT1A4, POLG, CYP2C9

Drug Class Description:58
Carbamazepine, divalproex, lamotrigine, oxcarbazepine, phenytoin and valproic acid are used to treat epilepsy, mania/bipolar disorder and neuropathic pain31-36. The most serious side effects associated with carbamazepine, lamotrigine, oxcarbazepine and phenytoin are blistering skin reactions known as Stevens Johnson syndrome (SJS) and toxic epidermal...

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Mood Stabilizers

Genes Analyzed:
HLA-A, HLA-B, UGT1A4, POLG, CYP2C9

Drug Class Description:58
Carbamazepine, divalproex, lamotrigine, oxcarbazepine, phenytoin and valproic acid are used to treat epilepsy, mania/bipolar disorder and neuropathic pain31-36. The most serious side effects associated with carbamazepine, lamotrigine, oxcarbazepine and phenytoin are blistering skin reactions known as Stevens Johnson syndrome (SJS) and toxic epidermal necrolysis19 37, 38. Other mood stabilizers such as valproic acid and divalproex can increase the risk of liver damage and resultant death in patients with hereditary neurometabolic disorder caused due to inherited POLG mutations35, 39-41.

  • Carbamazepine

  • Divalproex

  • Lamotrigine

  • Oxcarbazepine

  • Phenytoin

  • Valproic Acid

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Typical Antipsychotics

Genes Analyzed:
CYP2D6, CYP1A2, HTR2C, DRD2

Drug Class Description:58-59
Typical antipsychotics (TAPs), also known as first generation antipsychotics, are prescribed to treat various psychiatric disorders, including schizophrenia, mania, agitated behavior and severe anxiety42, 43. This class of drugs acts by blocking dopamine D1 and D2 receptors44-47.

  • Haloperidol

  • ...
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Typical Antipsychotics

Genes Analyzed:
CYP2D6, CYP1A2, HTR2C, DRD2

Drug Class Description:58-59
Typical antipsychotics (TAPs), also known as first generation antipsychotics, are prescribed to treat various psychiatric disorders, including schizophrenia, mania, agitated behavior and severe anxiety42, 43. This class of drugs acts by blocking dopamine D1 and D2 receptors44-47.

  • Haloperidol

  • Perphenazine

  • Pimozide

  • Thioridazine

  • Zuclopenthixol

Atypical Antipsychotics

Genes Analyzed:
CYP2D6,

Drug Class Description:58
Atypical antipsychotics are prescribed to treat various psychiatric disorders, including schizophrenia, schizoaffective disorder and bipolar mania48, 49. These medications bind serotonin and dopamine receptors50-55. Stimulation of serotonin receptor 2C (5-HT2C, 5-HTR2C, HTR1C) results in secretion of pro-opiomelanocortin (POMC), enhanced satiety and decreased food intake; therefore, serotonergic agents can decrease food intake and promote weight loss56, 57. Indeed, one of the major side-effects associated with atypical antipsychotics is significant weight gain57.

  • Aripiprazole

  • Asenapine

  • Clozapine

  • Iloperidone

  • Lurasidone

  • Olanzapine

  • Paliperidone

  • Quetiapine

  • Risperidone

  • Ziprasidone

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Other Neurological Medications

Genes Analyzed:
CYP2D6

Drug Class Description:58
Dextromethorphan and quinidine sulfate combination is an oral formulation used to treat pseudo bulbar effect. Galantamine is a cholinesterase inhibitor indicated for the treatment of mild to moderate Alzheimer’s disease22-25. Modafinil is a wakefulness-promoting agent used to treat excessive daytime sleepiness associated with narcolepsy26. Modafinil is often used in...

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Other Neurological Medications

Genes Analyzed:
CYP2D6

Drug Class Description:58
Dextromethorphan and quinidine sulfate combination is an oral formulation used to treat pseudo bulbar effect. Galantamine is a cholinesterase inhibitor indicated for the treatment of mild to moderate Alzheimer’s disease22-25. Modafinil is a wakefulness-promoting agent used to treat excessive daytime sleepiness associated with narcolepsy26. Modafinil is often used in combination with tricyclic antidepressant medication27. Tetrabenazine is a vesicular monoamine transporter 2 (VMAT) inhibitor indicated for the treatment of chorea associated with Huntington’s disease28.

  • Dextromethorphan and Quinidine

  • Galantamine

  • Modafinil

  • Tetrabenazine

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Pain Medication

Opioids

Genes Analyzed:
CYP2D6, CYP2B6, OPRM1

Drug Class Description:
The Opioid class of compounds has been extensively used to treat acute pain as well as to alleviate severe chronic pain associated with certain terminal conditions1.

  • Codeine2

  • Fentanyl3

  • Hydrocodone4

  • Methadone5

  • Oxycodone6

  • Tramadol7

NSAIDS

Genes Analyzed:
CYP2C9

Drug Class Description:”
Non-steroidal anti-inflammatory drugs (NSAIDs) are a class of drugs widely used for their analgesic, anti-pyretic and anti-inflammatory properties8.

  • Celecoxib9

  • Diclofenac10-12

  • Flurbiprofen13

  • Ibuprofen14

  • Meloxicam15

Other

Genes Analyzed:
CYP2C19, MTHFR

Other Medications:

  • Carisoprodol16

  • Methotrexate toxicity17

To download PDF versions of available genetic tests, click below.

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