Pharmacogenomics is the study of genetic variations that influence medication response.

Pharmacogenetics is the study of the role that DNA variants play in drug efficacy. The DNA variants may either be inherited, and part of an individual’s inherited genetic make-up, or may be acquired in a person’s tumour (non-heritable) and can be used to predict drug responses or the likelihood of adverse drug reactions.

In addition to specific tests available for the enzyme thiopurine S-methyltransferase (TPMT) and glucuronyltransferase (UGT1A1), there are three Pharmacogenetic (PGx) panel tests available. These cover enzymes involved in breaking down medications used in the mental health area and the pain area as well as a wide range of other medications.

 

Pharmacogenomics (PGx)
Medication Tests

$147
PGx Mental Health 

Covers  medications used for mental health conditions including antidepressants and antipsychotics.

Results available within 10-12 business days.

$147
PGx Pain

Covers medications used for chronic pain, such as opioid analgesics and NSAIDs.

 

Results available within 10-12 business days.

$197
PGx Multi

Incorporates all medications covered in the Mental Health and Pain panels plus some additional pharmaceuticals.

Results available within 10-12 business days.

dna in capsules_1024x1024px

In the case of cancer treatment, the mutations acquired in a person’s tumour (non-heritable) may make the tumour more sensitive or resistant to treatment targeted gene, or gene pathway, specific treatment.

Providing the patient with the right dose of the right medicine is the aim of personalised medicine. Variation in an individual’s genetic makeup compared to others in the general population can affect their response to medications because some of these variations affect drug metabolic pathways. In some cases, this may result in sub-optimal therapeutic levels, or conversely, toxic adverse effects.

The PGx Mental Health (MH) test analyses a specific group of genes that are known to be involved in drug metabolism for a broad range of medications used in the treatment of mental health conditions. The report provides detailed interpretation and prescribing recommendations for many antidepressants, antipsychotics, ADHD medications and some anxiolytics, all of which are listed in the medication Quick Reference List, downloadable at the bottom of the page.

Test NamePGx Mental Health (MH)
Clinical IndicationTo determine optimal medication and dosage for medications commonly used in mental health settings (e.g. SSRIs)
Gene(s)CYP2D6*2, *3, *4, *5, *6, *7, *8, *9, *10, *14A, *14B, *17, *29, *36, *41; CYP2C19*2, *3, *17; CYP2C9*2, *3; CYP1A2*1F and CYP3A4*22.
MethodPCR Genotyping
Turn around time2 weeks from sample receipt
Medicare EligibilityNo
Sample TypeBlood
Collection Type10mL EDTA tube
Special InstructionsPlease state PGx MH on the request form

The PGx Multi test analyses variations in genes that have been shown to influence drug response and metabolism for over 80 medications used commonly in clinical practice and includes all genes present in PGx MH and PGx PAIN. Given many patients are on multiple medications, you may find the PGx Multi report most useful as it covers a broad range of medication classes. The report provides medication-specific prescribing considerations to help improve the safety and efficacy of medications and reduce the risk of unwanted side effects.

Test NamePGx Multi
Clinical IndicationTo determine optimal medication and dosage for multiple pharmaceutical agents
Gene(s)CYP2D6*2, *3, *4, *5, *6, *7, *8, *9, *10, *14A, *14B, *17, *29, *36, *41; CYP2C19*2, *3, *17; CYP2C9*2, *3; CYP1A2*1F; CYP3A4*22; CYP3A5*3; SLCOB1, VKORC1 and OPRM1
MethodPCR Genotyping
Turn around time2 weeks from sample receipt
Medicare EligibilityNo
Medicare DescriptorN/A
Sample TypeBlood
Collection Type10mL EDTA tube
Special InstructionsPlease specify PGx Multi on the request form

The PGx Pain test analyses a specific group of genes that are known to affect the drug response to several analgesics used to treat different types of pain. The report provides detailed interpretation and prescribing recommendations for several opioid analgesics, non-steroidal anti-inflammatory drugs (NSAIDs) and some medications used for neuropathic pain, all of which are listed in the medication Quick Reference List downloadable at the bottom of the page.

Test Name PGx Pain
Clinical Indication To determine optimal medication and dosage of pain medications
Gene(s) CYP2D6*2, *3, *4, *5, *6, *7, *8, *9, *10, *14A, *14B, *17, *29, *36, *41; CYP2C19*2, *3, *17; CYP2C9*2, *3; CYP1A2*1F and OPRM1
Method PCR Genotyping
Turn around time 2 weeks from sample receipt
Medicare Eligibility No
Sample Type Blood
Collection Type 10mL EDTA tube
Special Instructions Please state PGx Pain on the request form

Thiopurine drugs are used as both immunosuppressive and chemotherapeutic agents. Inherited genetic variants that result in reduced activity of the enzyme thiopurine S-methyltransferase (TPMT) are associated with cytoxicity and particularly with bone marrow failure. Multiple variants have been associated with decreased TPMT activity but 4 specific variant alleles (TPMT*2, TPMT*3A, TPMT*3B and TPMT*3C), account for the majority (>95%) of low and intermediate activity cases. Patients with one variant allele have intermediate activity whereas those with two variants have low or no activity.

TPMT genetic testing can predict thiopurine drug toxicity in a variety of conditions, including renal transplantation, rheumatoid disease, inflammatory bowel disease and lymphoblastic leukaemia. Genetic variants have also been implicated in ototoxicity associated with cisplatin treatment in children.

Test NameTPMT genotype
Clinical Indication1. To identify risk for severe bone marrow suppression with use of thiopurine drugs prior to treatment commencement, or
2.To evaluate adverse reaction to thiopurine drugs in patients already being treated with these agents.
Gene(s)TPMT
MethodPCR Genotyping
Turn around time7 days
Medicare Eligibility73327
Sample TypeBlood
Collection Type10mL EDTA Tube
Special InstructionsNone

Gilbert Syndrome is characterised by jaundice due to increased levels of unconjugated plasma bilirubin. Men are at higher risk than females and usually present post-puberty. In people of northern European ancestry, cases of Gilbert Syndrome are often associated with inheriting two copies (one from each parent) of a specific mutation in the promoter region of the gene encoding the enzyme glucuronyltransferase (UGT1A1), designated UGT1A1*28 allele. UGT1A1 is a liver enzyme important for clearing conjugated bilirubin from the circulation. In general, other than the low grade elevated bilirubin levels, people with Gilbert Syndrome exhibit no other signs or symptoms. In some cases, toxicity therapeutic agents, such as anticancer agent Irinotecan and anti-viral protease inhibitor Indinivar, may occur in patients with Gilbert Syndrome.

Testing for Gilbert Syndrome may assist in differentiating the cause of isolated elevated bilirubin levels in those patients with normal test results for FBC, reticulocytes, haptoglobin and liver enzymes.

Test NameGilbert’s Syndrome Genotyping
Clinical Indication1.For the investigation of hyperbilirubinaemia (jaundice)
2. To determine greater susceptibility to irinotecan induced gastrointestinal and bone marrow toxicity
Gene(s)UGT1A1 (UDP-glucuronosyltransferase Family 1 Member A1)
MethodPCR Genotyping
Turn around time28 days
Medicare EligibilityNo
Sample TypeBlood
Collection Type10mL EDTA tube
Special InstructionsNone

PGx Panel FAQs

Test results for the PGx tests through Genomic Diagnostics and performed by myDNA are returned in the form of a summary report through the normal delivery process of your local associated pathology laboratory. A more detailed pdf report with additional information around prescribing and future options is available through an internet Doctor portal, which requires registration.

To register for the doctor portal, please firstly contact your local liaison officer or our Customer Care Team on 1800 822 999. You will need to provide them with an email address. They will register you and an email will be sent to your nominated address with a link allowing you to activate the portal. This link takes you to a login screen where you will need to nominate a password. Each location that you practice at will require a specific log in although the email addresses can be the same.

The PGx MH, Pain and Multi are all non-Medicare rebateable tests. Please ask your patients to pay via the shopping cart on the genomic diagnostic website or or call 1800 822 999 before having their bloods collected.

Simply request PGx MH, PGx Pain or PGx Multi on a standard request form. It is important to list all medications the patient is currently taking, so an accurate report can be returned.

Resources

Select your state:

Leading the way to improved health

Our dedicated team are committed to ensuring the best quality
results in the shortest turnaround time.