What is pharmacogenomics?
Pharmacogenomics is the study of genetic variations that influence an individual’s response to drugs and now their genetic makeup affects the metabolism of medications. Pharmacogenomics is the combination of pharmacology and genomics. Pharmacology is the part of science that studies how drugs work.
PGx testing can mean the difference between a treatment failure and a successful outcome. While one treatment approach may work well for one individual, the same approach may not be effective or may cause adverse drug effects in other patients.
PGx reports CYP genetic variants in patients as extensive metabolizers (EM), poor metabolizers (PM), intermediate metabolizers (IM), or ultra-rapid metabolizers (UM) for their varying degrees of drug-metabolizing abilities. Extensive metabolizers have normal drug metabolism. Poor metabolizers have no or very low metabolism; intermediate metabolizers have reduced metabolism; and ultra-rapid metabolizers have higher than normal drug metabolism. This is critical information to have BEFORE prescribing. And, of course, there is no cost to the doctor for implementing this test.
Tragically, adverse drug reactions are now the 4th leading cause of death in America with over 125,000 people dying and 2 million hospitalized each year.
When is pharmacogenomics testing indicated or recommended?
Pharmacogenomic testing predicts how individuals will respond to medication. Pharmacogenomics testing is recommended for any patient who is taking medications where the FDA requires or recommends PGx testing. It is also recommended for any patient who is receiving or will receive medications that have pharmacogenomic biomarkers indicated in their labeling.
Why choose our lab partner’s PGx test for pharmacogenenomic testing?
The PGx test comprehensively screens 53 well-established pharmacogenomic genes with comprehensive coverage of ~200 genetic variants in a single, cost-effective test that provides medically actionable and clinically relevant data. This allows physicians to make effective treatment decisions for their patients. The test utilizes Next Generation Sequencing technology. PGx results provide physicians with concise, information about a patient’s genotype, thus allowing them to make effective treatment decisions. Because a patient’s genotype remains constant, PGx results can be used to inform medical treatment throughout their lifetime.
Is there an independent resource for information on pharmacogenomics testing?
PharmGKB is a pharmacogenomics knowledge resource that encompasses clinical information including dosing guidelines, drug labels, potentially clinically actionable gene-drug associations and genotype-phenotype relationships. It is a publicly available tool developed by Stanford University with funding from the NIH.
Who will benefit from the PGx test?
Any patient that has been diagnosed with, or is currently being treated for a disease with prescription medications will benefit from the test.
Pharmacogenetics testing can be particularly useful in:
- Patients demonstrating sensitivity or lack of symptom relief
- Patients with chronic conditions and multiple prescriptions
- Patients with a history of poor compliance
- Patients with pharmacotherapy failure
What genes are screened by the PGx test?
ABCB1, ACE, ADRA2A, ANKK1, APOE, APOB, AGTR1, ATM, CDA, CES1, CNR1, COMT, CYP1A2, CYP2B6, CYP2C19, CYP2C8, CYP2C9, CYP2D6, CYP3A4, CYP3A5, CYP4F2, DPYD, DRD1, DRD2, ERCC1, F2, F5, FAAH, G6PD, GRIK4, GSTP1, HFE, HLA-B, HTR1A, HTR2A, HTR2C, IFNL3, ITPA, KIF6, LDLR, MTHFR, NAT2, NOS1AP, NQO1, OPRM1, SCN2A, SLC6A4, TPMT, UGT1A1, UGT2B15, VKORC1, XRCC1
How often should patients be tested?
Patients need only to be tested once, as genetic information does not change over time.
What are specimen submission requirements for the PGx test?
Specific submission requirements are as follows: PGx testing uses DNA isolated from buccal swabs, mouthwash/oral rinse, blood or saliva.
Buccal Swabs: Two buccal swabs are provided in the test supplies sent to the physician (at no cost) by the lab. Both swabs should be used to obtain buccal cells from the patient’s cheeks according to the instructions provided. The swabs should be placed into the collection tube as indicated.
Mouthwash/Oral Rinse: Scope mouthwash, measuring cup, and collection tube are provided to the Physician. Fill the measuring cup near the top with mouthwash. Swish vigorously for at least 15 seconds then spit all the mouthwash from your mouth to the collection tube. Repeat twice to ensure the collection tube is filled at least to the 40ml lines.
Blood: DNA blood tube is provided to the Physician. Draw at least 2mls of blood in lavender top vacutainer, which contains EDTA as an anticoagulant. Immediately invert the tube 8 to 10 times to ensure mixing and anticoagulation of the samples.
Saliva: A saliva collection supply is provided to the physician. The tube must be filled with saliva to the black wavy line as detailed in the provided instructions. Following collection, tighten the cap and shake the tube for at least five seconds to ensure proper mixing of the saliva with the stabilizing solutions.
How long does it take to get the test results?
Test results will typically be available within 7-10 business days following receipt of the patient sample.
Who will interpret the test results?
The sequencing data obtained during the test process will be analyzed by the lab’s Bioinformatics group using proprietary algorithms. The lab will present the results to the physician in a clear, concise, and easy to understand format that is evidence-based and clinically actionable.
A courtesy consultation with experts in the field of pharmacogenomics is available Monday through Friday 8 am to 8 pm EST at 844-4ADMERA (844.423.6372)
How accurate are PGx results?
PGx sequencing data (variant detection) was validated by direct comparison to data generated by Sanger sequencing. The PGx test displayed 100% sensitivity (true positive detection rate) and 100% specificity (true negative detection rate). PGxOne test accuracy was determined at >99.99% with 66296 of 66289 bases in the Sanger data set correctly called using PGx data.
How do I get started?
Your MedXPrime™ representative can enroll you as a client of the lab with a simple one-page form.