Pharmacogenomic (PGX)

Pharmacogenomic testing is the first step to ensuring you are taking the right medication(s) at the right dose and at the right time. It is a test at the forefront of personalized medicine, narrowing the ever-growing list of therapeutic options down to the treatment option(s) with the highest efficacy. Pharmacogenomic (PGX) testing reveals how an individual metabolizes medications by looking at single nucleotide polymorphisms (SNPs). These SNPs are single base pairs variations responsible for 90%1 of human genomic variation and can inform healthcare providers on how much pain medication is needed to work effectively. For example, a high dosage of medication can cause an individual to build up tolerance and their body becomes dependent. Copy number variation (CNV) in specific segments of our DNA also play a key role in a very important gene family that are responsible for approximately 30%2 of all hepatically metabolized medications. 

For instance, a patient with 3 copies of a SNP in these genes could respond differently to the same medication than someone with a deletion of the same SNP. Specific pathways are responsible for how our bodies metabolize medications. 

Some medications need to be activated in order to work properly. If an individual has a mutation that does not activate that medication at the expected rate, it can cause complications in their treatment. Personalized Pediatrics Laboratories utilizes PGX testing to provide a piece of the

puzzle that tells us if that pathway works as expected. This information lets us know that the medication that uses that pathway will work in a predictable manner.

A non-invasive sample of saliva or a buccal swab is all that is needed for our PGX assay. A swab rubbed along the cheek and gums or 2mL of saliva deposited directly into the collection tube, provides enough DNA to begin genetic testing. Through our PGX assay, we are able to discern variations in a person’s genes that may affect their receptivity to specific drugs. At Personalized Pediatrics Laboratories we understand that the knowledge from PGX testing can greatly impact the course of treatment, giving healthcare providers an informed look into how a patient’s genes can dictate reactions and side effects to prescribed medications.

Benefits to this test include a better understanding of side effects, personalized prescribing, and overall improvement of patient care. Our PGX assay is most effective when testing is completed before the prescribing of medication, ensuring that patients get quality care that is specific to their genetic makeup. Navigating the vast landscape of medication and drug therapy is more simple when PGX testing provides a roadmap for healthcare providers. This assay ensures that trust is built between a patient and their provider, and keeps the patient’s time and money in mind when choosing treatment that is appropriate to their diagnosis.