https://www.futuremedicine.com/doi/10.2217/pgs-2020-0007
Thanks to Christine Aquilante, lead author and main force of nature behind our early experience with Pharmacogenomics. Pharmacogenomics is the specifc branch of Genomics and Personalized Medicine that deals purely with “drug-gene pairs” or how a patients genetic variants might affect their ability to process and metabolize medication. The upshot is: some patients don’t respond well to some medications. There are now several dozen drug-gene pairs well described in the literature, where patients won’t respond well to certain medications because of their genomic variant. However up until now, it has been difficult to get any knowledge of such variants in front of the patient and prescriber at the most important time: when deciding on a new prescription.
UCHealth has a Biobank where we have obtained research lab samples from over 100,000 patients (drawing an extra lab tube in the course of routine clinical care) and have been testing samples for pharmacogenomic markers. In a few cases, we have found clinically relevant genetic variants that we are beginning to deliver back into the Electronic Health Record in the form of test results for clinician, in the form of test results and notification to the patient in the patient portal, and finally and most importantly, to the prescriber of the affected drug AT THE TIME OF PRESCRIBING for any affected patient.
This is groundbreaking, and hard work on so many levels:
- Have to educate providers about pharmacogenomics: something that most did not learn in school
- Have to educate patients on complexities of homozygous, heterozygous, population risks and multiple gene variants, balancing transparency with unintended alarm
- Have to figure out when/how to alert prescribers at just the right time, for exactly the right population so that we don’t overstep what the science tells us is true in the research. In other words, don’t alert ALL patients with the genetic risk and a particular prescription if 99% of them will NOT ultimately have a problem with that prescription.
- Lots of other things to think through (we just spent an hour just starting the conversation on our next drug-gene pairing)
CMIO’s take? We are happy to be among the few organizations setting up, and scaling up our efforts on Biobanking: conducting research AND benefiting patients in clinical care with PGx. Here we are expanding the boundaries of medical knowledge, and turning around to translate this into better decision making for our providers and patients.
