T Minus 5, 4, 3, 2, 1, and We Have Pharmacogenetic Results in the EHR

For 4000 patients, we now have data and reminder tools to notify clinicians of important drug-gene interactions at the time of prescribing.

by GUEST BLOGGERS: Christina Aquilante PharmD and David Kao MD

The Go Live

The morning of Wednesday, December 1, 2021, members from the Colorado Center for Personalized Medicine (CCPM), UCHealth IT, and BC Platforms teams surrounded their home computers, fixated on a Microsoft Teams channel. It had all the feels of a space shuttle launch. The teams had been working for five months to upgrade the CCPM Biobank pharmacogenetic (PGx) return of results pipeline. Today was the big day – CYP2C19 and SLCO1B1 PGx results were about to be returned to the UCHealth Epic electronic health record (EHR) for Biobank participants.

8:22 am. “Good morning! Happy go-live! Kristy Crooks, Biobank Laboratory Director, will be signing off the first plate at 8:30 am.” typed UCHealth Project Leader, Emily Hearst.

8:30 am. “Please post in the Teams chat when you sign off on the first plate. We know there will be a delay as the plate is being processed,” typed Emily Hearst.

8:32am. “Plate signed off. Not seeing a result in Epic yet,” typed Kristy Crooks.

8:36 am. “PGX molecular was resulted!” typed Kristy Crooks. A flurry of emojis followed.

8:37 am. “Yesssss!!! Strong work all!” typed CCPM Medical Director, Dave Kao.

The teams worked for the next few hours troubleshooting minor technical glitches and testing more plates.

12:21 pm. “We have success!” typed UCHealth Systems Architect, Katie Hess.

The Biobank that returns Clinical Results

The success of December 1st’s go-live was a culmination of years of hard work from many different teams. In 2015, CCPM partnered with UCHealth to establish the Biobank Research Study. As part of the study, UCHealth patients are asked to provide a blood or saliva sample for genetic research. There is also the potential to have clinically actionable results (e.g., PGx) returned to them and their EHR. Prior to 2021, PGx results had been returned for some Biobank participants but the return process was put on hold to upgrade some of the IT infrastructure. After an incredible team effort, the revised IT pipeline launched on December 1, 2021 and

almost 4000 Biobank participants have now had CYP2C19 and SLCO1B1 results returned to their UCHealth EHR and patient portal.

Christina Aquilante, PharmD

CYP2C19 is an enzyme that metabolizes medications such as citalopram, escitalopram, clopidogrel, proton pump inhibitors, and voriconazole. Due to genetics, approximately 60% of patients are not CYP2C19 normal metabolizers, which can influence medication efficacy and safety. SLCO1B1 is a protein that transports statins into the liver. Approximately, 28% of patients have decreased or poor SLCO1B1 transporter function. This can lead to an increased risk for statin-associated musculoskeletal symptoms.

Given that > 30 million Americans take statins annually, this seemingly small risk [genetic variant] can ultimately affect a lot of people.

Christina Aquilante, PharmD

The “Last Mile” Problem

The questions that get asked most often by clinicians are – How will I know if my patient is a Biobank participant? How will I know if they have CYP2C19 or SLCO1B1 results? What do I do with this information clinically?  How often are these alerts going to interrupt what I’m doing?

The good news is that the CCPM and UCHealth teams have built clinical decision support tools to notify clinicians of important drug-gene interactions for Biobank participants at the time of prescribing. In other words – clinicians don’t need to look for it – the tools will tell them when it is important. Currently, PGx CDS tools are live across the UCHealth system for 17 medications affected by either CYP2C19 or SLCO1B1. These tools contain guidance for how to modify drug therapy based on the patient’s PGx results.

In the cable TV industry, this used to be called the “Last Mile” problem, where a cable company could build a terrific network of cable channels, underground cables and signal transmitters, and yet that “last mile” to the customer’s home, determines if the customer gets any benefit.

Importantly, the teams took great care when designing the CDS tools, and most of the tools are highly visible and yet non-interruptive in nature, i.e., they will not stop a clinician’s workflow. As of February 14, 2022,

301 drug-gene interaction alerts have fired in clinical practice for 268 Biobank participants.

David Kao MD

The most common alerts are for proton-pump inhibitors (PPIs), followed by es/citalopram, and then statins. The work to date is just the tip of the iceberg for the CCPM Biobank PGx return of results initiative at UCHealth. The team is in the process of preparing for another gene launch in early summer – this one for DPYD, which affects the chemotherapeutic agents 5-fluorouracil and capecitabine. Simultaneously, the teams are planning for the deployment of a Genomics Module in Epic and testing out new genotyping platforms with more extensive PGx variant coverage. When these pieces are in place, the sky’s the limit for PGx at UCHealth.

Christina Aquilante, PharmD, Professor
Director of Pharmacogenomics, Colorado Center for Personalized Medicine

David Kao, MD, Associate Professor
Medical Director, Colorado Center for Personalized Medicine

Author: CT Lin

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

One thought on “T Minus 5, 4, 3, 2, 1, and We Have Pharmacogenetic Results in the EHR”

  1. Love your blog and the open knowledge dissemination! Congratulations to the UC Health Team! First step of a journey to better leveraging ‘omics data in daily practice.

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