Advances in PGx (Pharmacogenomic or Drug-gene interaction) at UCHealth (guest bloggers Dr. Christina Aquilante and Dr. David Kao)

Pharmacogenomics is advancing quickly: we can warn prescribers in the EHR when patients have genomic variants that reduce medication effectiveness. We are going from screening populations (18,000 so far), to anticipatory screening for high risk patients (cancer center patients about to choose a chemotherapy). Cool.

Previously, at the Colorado Center for Personalized Medicine…  

In December 2021, our heroes (CCPM in partnership with UCHealth) began releasing clinical pharmacogenetic test results for CYP2C19 and SLCO1B1 to the Epic electronic health records for CCPM biobank participants.

Eighteen months later, our program has flown to new heights.  We have returned results to over 18,000 biobank participants, which have impacted the care of over 2,600 patients.  We have expanded our program to include an additional 5 PGx genes (DPYD, TPMT, NUDT15, CYP2C9, ABCG2), 4 of which went into production the last week of April.  Altogether, these genes impact the effects of 30 different medications ranging from antidepressants to anti-inflammatories to chemotherapies!   


Meanwhile, back at CCPM headquarters…  

Our heroes continue to return high impact genetic variants with potentially life-changing and life-saving impacts for biobank participants and just as importantly, their families.  Our biobank lab and genetic counselor team have returned results for around 30 of these genes to over 250 patients.  As a result of this effort, many patients have been referred to specialists for evaluation and monitoring to identify and treat any concerning conditions as early as possible. In many cases, participants’ siblings and even children are also being tested, often when they otherwise wouldn’t have, giving them the power to battle the villains of genetic disease.     

 Join us next time…  

When we begin performing clinical-first tests for chemotherapies used to treat certain kinds of cancer and medications to reduce the side effects of chemo.  This will be our biggest challenge yet, adding an additional 2 genes, including CYP2D6, which has the potential to affect over 20 medications that treat a host of different conditions. We will start returning non-PGx results to the EHR electronically as well and use invisible data science superpowers within the EHR to identify UCHealth patients most likely to benefit from pre-emptive pharmacogenetic testing. 

CCPM and UCHealth were leading the charge toward use of genetics for clinical care 18 months ago, and our program has grown exponentially since then.  Thank you for joining us for the next phase of our adventure!  

(Photo by Patrick Campbell/University of Colorado)

Christina Aquilante, PharmD
Professor, Department of Pharmaceutical Sciences
University of Colorado Skaggs School of Pharmacy and Pharmaceutical Sciences
Director of Pharmacogenomics, Colorado Center for Personalized Medicine

David Kao, MDAssociate Professor of MedicineDivisions of Cardiology and Biomedical Informatics/Personalized MedicineUniversity of Colorado School of MedicineMedical Director, Colorado Center for Personalized MedicineMedical Director, CARE Innovations Center, UCHealth

Author: CT Lin

CMIO, UCHealth (Colorado); Professor, University of Colorado School of Medicine

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