What is pharmacogenomics?
Pharmacogenomics is the study of how individual genetic variability impacts drug absorption, metabolism and activity. 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.
When is pharmacogenomics testing indicated or recommended?
Pharmacogenomic testing predicts how individuals will respond to medication. It is recommended for any patient who is receiving or will receive medications that have pharmacogenomic biomarkers indicated in their labeling.
Why choose us for pharmacogenenomic testing?
The test utilizes Next Generation Sequencing technology and provides information for individual patient responses to 144 FDA approved drugs. All drugs covered by our test have been endorsed by the FDA (Food and Drug Administration), EMA (European Marketing Authority) and/or the CPIC (Clinical Pharmacogenetics Implementation Consortium), an organization that provides clinical guidelines and recommendations on pharmacogenomics. Our results provide physicians with concise, medically actionable information about a patient’s genotype, thus allowing them to make effective treatment decisions. Because a patients genotype remains constant, these 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 our pharmacogenomics test?
The testing covers 50 genes in numerous therapeutic areas including (but not limited to) psychiatry, cardiology, gastroenterology, neurology, rheumatology, oncology, hematology, women’s health, infectious disease, and endocrinology. Any patient that has been diagnosed with, or is currently being treated for a disease within any of these therapeutic categories will benefit from the test. The test includes over 220 of the most commonly prescribed drugs.
What are some of the genes that are screened?
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?
Our testing uses DNA isolated from buccal cells. Two buccal swabs are provided in the test kit sent to the physician. Both swabs should be used to obtain buccal cells from the patient’s cheeks according to the instructions in the test kit. The swabs are then placed into the collection tube as indicated, and sent back to the laboratory via the return, pre-paid packet provided. If blood is being drawn, a purple top tube can be added and used to collect a sample.
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 the laboratory’s Bioinformatics group using proprietary algorithms. The laboratory will interpret the results and present it to the physician in a clear, concise, and easy to understand format.
How accurate are the results?
Our test sequencing data (variant detection) was validated by direct comparison to data generated by Sanger sequencing. It displayed 100% sensitivity (true positive detection rate) and 100% specificity (true negative detection rate). Its accuracy was determined at >99.99% with 66296 of 66289 bases in the Sanger data set correctly called using test kit data.
How do I get started?
We can enroll you as a client of our lab with a simple one page form. Complete the Contact Us form, and we will help you get enrolled.