Pharmacogenomics coming to EMRs

In Chicago, hope that the first drug-gene pair will live on Epic by the summer
By Neil Versel
10:40 AM
NorthShore University HealthSystem

Underpinning the newly established pharmacogenomics clinic at NorthShore University HealthSystem is a strong analytics infrastructure.

[See also: Genomics pose 'daunting' test for EHRs]

The clinic, which opened in recently in Evanston, Ill., is the first of its kind in the densely populated Chicago area and among just a handful in the nation to focus exclusively on pharmacogenomics, according to Mark Dunnenberger, senior clinical specialist in pharmacogenomics in NorthShore's Center for Molecular Medicine.

The four-hospital system has had a Center for Medical Genetics for several years. Initially, the center had a pharmacogenetics issue about once a quarter, but the frequency has increased as NorthShore has compiled more genomic data and analytics have improved, said Dunnenberger, who came from St. Jude Children’s Research Hospital in Memphis, Tenn., last August to help NorthShore launch the pharmacogenomics clinic.

"There's definitely a need from the community," he said.

NorthShore, with three hospitals in the very first group to achieve Stage 7 on the HIMSS Analytics EMR Adoption Model, has long been nearly paperless. Dunnenberger envisions a future where every NorthShore patient will have pharmacogenomic data in their medical records.

With this goal in mind, he and his team must figure out how to get pharmacogenomic issue into medical records so physicians can use it in practice. "Some of this will be bread and butter in the future," Dunnenberger said.

He said his team is working on building "systematic and discrete data points" into the medical record to make this information easily accessible to clinicians and compatible with clinical decision support systems. "It will be like doing drug-drug and drug-allergy checks," Dunnenberger said.

As with CDS, "building discrete data points can be problematic," according to Dunnenberger.

A group called the Clinical Pharmacogenomics Implementation Consortium, supported by the National Institutes of Health and run by Dunnenberger's former colleagues at St. Jude Children's, is driving the development of such data points.

"There is a lot of informatics heavy lifting to be done," Dunnenberger said. The number of combinations of potential hazards is far higher than with normal clinical decision support.

At NorthShore, Dunnenberger first needs to figure out what clinicians want to see at the point of care, then find a way to deliver it. He expressed hope that the first drug-gene pair will live on the Epic EHR by the end of June.

In the next year or so, expect to see "preemptive panels" for several drug-gene pairs so doctors are heading off problems in advance, not practicing "reactive medicine," according to Dunnenberger. He plans to pilot the system with certain, still-to-be-determined populations. "We're trying to learn some lessons from the clinic before we get to that point," he said.

One patient, Kathy Mangold, a molecular biologist who directs the NorthShore Biospecimen Repository, offers some insight as to how the emerging field of pharmacogenomics works.

There is a history of blood clots in the legs in Mangold's family. In 1999, Mangold took a test for a genetic mutation that indicates a higher risk for clots. She found that she had one "bad" copy in each of three gene pairs that predict risk for deep-vein thrombosis. "I'm almost a perfect control for the lab," Mangold said.

Three of her four siblings have the same mutations, and the fourth had two mutations—passed on by both parents—on one of the three gene pairs.

In late 2013, Mangold suffered an accidental fall, and subsequent tests actually led to the discovery of a benign brain tumor. Because of the mutations, Mangold wore pressure boots during her surgery and recovery to prevent DVT, and the care team at NorthShore made sure she was up and moving as early as possible each day to prevent DVT. This continued post-discharge.

However, her recovery just happened to be during the first wave of the polar vortex that gripped the Chicago area — a.k.a. "Chiberia" — during the brutal winter of 2013-14, so Mangold was not able to do as much walking once she got home. She also had gone off her daily aspirin regimen to avoid interactions with blood thinners during and immediately after surgery, and ended up with a blood clot.

Other genetic tests look at genomics for other genes related to drug metabolism. "That's when it came to light that I also had warfarin mutations," Mangold said. That meant that her body could not properly metabolize Vitamin K while on warfarin, raising the risk of clotting.

Knowing this, physicians adjusted her dosage of both the drug and Vitamin K before the DVT became fatal. "There is a dosing calculator that can adjust for genetics," Mangold said.

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