Advances in PGx (Pharmacogenomic or Drug-gene interaction) at UCHealth (guest bloggers Dr. Christine 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

Designing for Health podcast (Salmi, Steitz, Lin) on Patients Receiving Test Results ImmediatelyC

Caution: humor and high quality research facts ahead! What percent of patients worry? What percent of patients prefer immediate release even if result is abnormal? There are research findings?

Listen in! This was a great conversation, with Drs. Steitz of Vanderbilt University and Liz Salmi, citizen scientist, patient researcher, punk rock star. I’m there too. Interviewed by Jerome Pagani and Craig Joseph MD. Will there be ukulele?

Here’s the paper:

Podcast: Designing for Health: Do patients want to see their test results immediately? (hint: 96% say yes)

Come join us! Dr. Bryan Steiz, first author, Liz Salmi, Chief Patient Informaticist, and I discuss our recent publication on the subject of patients accessing their test results online BEFORE their doctor can inform them. This poses a host of gnarly questions that had no data, no answers … UNTIL NOW.


As more patients email docs, health systems start charging fees (KFF Health News)

What’s the buzz about physicians and APP’s charging patients for online messages? This is a nicely balanced and informative article on the current state of health system billing for patient messages.

As More Patients Email Doctors, Health Systems Start Charging Fees

HERE IT IS! EMOJI’s Have Arrived in Epic Secure Chat

It is hard to express the excitement I have for this tiny little (yet disproportionately huge) development in our Unified Communications strategy

To those NOT on the Epic EHR journey, or those who have NOT been implementing “secure chat” tools in their organization, this may not seem like a big deal.

It is.

The challenge? Secure chat is terrific when you’re the sender, you can reach a LOT of colleagues by texting on your smartphone. HOWEVER, there is such a thing as “TOO MUCH OF A GOOD THING.” Some of our residents are receiving upwards of 400 secure chat interruptions PER DAY.

How can one even think, much less be effective as a physician / APP / resident caring for patients?

One of the unwanted interruptions is the expression of “Thank you!” when grateful for a rapid and effective response from a colleague. And YES, we do want to increase our mutual expression of gratitude to build trust and a sense of teamwork and human connection.

HOWEVER! This “Thank you” can come when the physician is scrubbed in to a surgical case, and we can’t tell when something is an new message or a “Thank you.”

One tool we have been begging our Epic Wisconsin developers for, is a NON-interruptive EMOJI that allows the reply with a THUMBS UP or SMILE or SURPRISE or CRY or HEART, that is NOT interruptive but shows up the next time that person checks their phone.

As a result? WIN-WIN! We give gratitude, feel a sense of connection AND the recipient does NOT receive another interruption, but can digest that reply at their leisure.

WELL, your wait is over, UCHealth colleagues, we have installed this Epic version update and now: HOVER OVER (on computer) or TAP AND HOLD (on phone) the message and you too, can send non-interruptive THANK YOU emoji’s.

Now, I’m going to go send our Epic Wisconsin colleagues an nice THUMBS UP.

AI and reinventing learning in health systems (Beckers podcast, with ME!)

Where Bobby Zarr and I discuss the future of learning in health systems, with AI embedded in tools like the ones in our Learning Assistant, what we internally brand our education from uPerform.—with-uperform-118045831.html


With Unwarranted Optimism like that … (personal reflection)

A Romantic Ocean-side Dinner Conversation. What could go wrong?

I love my wife.

She’s the one.

She’s the one who keeps me grounded.

CT: [One evening, over a couple of drinks, looking out over the Pacific during our romantic dinner out] “Hey, that surf is so calm, I bet I could go and swim a half mile along the beach right here.”

Wife: “And you’re exactly the kind of person with unwarranted optimism who would go out there, get pulled into a riptide and drown.”

CT: “…” o_o

Who is right here? Probably … both of us?

CMIO’s take? How about you? What contradictions do you embody in YOURself?

Footnote: the lovely Marine Room in San Diego, a few years ago.

The Nerd Family Camping Trip (a personal reflection)

Does your family camping trip look like this? Should it have to? What is wrong with this picture?

I am both grateful and horrified that our family camping trip to the Southwest of Colorado in large part is comprised of hauling books around the state in case someone has an urgent need to sit quietly and read. 

Here we have stacked the very different interests of of our 2 kids and my wife and myself. 

By Dall-E

I’ll go ahead and claim:

Measure What Matters, by John Doerr, who claims that OKR’s transformed Google into the powerhouse it is today.

The Gift of Therapy, Irvin Yalom, given to me by my daughter, who thinks I need some more grounding in the principles of psychotherapy and their application to working with colleagues in a high-pressure, high-stakes environment.

Designing Your Life, Bill Burnett, describing the foundations of Design Thinking, with applications to ones’ own life. 

Tribal Leadership, Dave Logan, about the 5 tribes and how our self-categorization is so poor, and how we all aspire to work on high-performance teams, and why we fall so short so often, and how to fix ourselves. 

Fresh off the Boat, Eddie Huang. An incredible, in-your-face, atypical Asian immigrant story. Wow.

CMIO’s take? All highly recommended. Or maybe I loved them because I was camping. What do YOU take camping?

Secure Chat: Ukulele EHR parody to Beatle’s HELP!

Welcome home from Epic UGM 2023. Another action packed few days of hob-nobbing with 15,000 of our best Epic customer friends, and learning about each other’s successes, failures, innovations.

Thanks to my colleagues Heidi Twedt MD and Deepti Pandita for our session on Growing an Informatics Program.

Here are the lyrics:

HELP! Secure Chat (apologies to the Beatles)

[Am]Help! I need a consult

[F]Sage! I cannot tell if you got my

[D]Page! You know I need someone, [G]Help!

When I was younger, I used to carry 5 bell-boys  G Bm

I had to wear an extra belt to handle all my toys.  Em C F G

Pagers phones and VOIP devices pulling down my pants   G Bm

Wishing for a way to connect without hospital intercom blasts. Em C F G

Help me if you can, I’m feeling down   Am

And I do appreciate seeing u on rounds   F

Help me get my pockets off the ground   D

Won’t you please please help me?    G

And now my life has changed, in oh so many ways. G Bm

The weight around my neck has seemed to vanish in the haze. Em C F G

And now those days are gone, I’m much more where it’s at. G Bm

Now I find I’ve changed my mind, I’m loving Secure Chat. Em C F G

I can help you if you’re feeling down. Am

We can quickly answer questions during rounds. F

We’ll send EMOJI’s with the joy we’ve found. D

Won’t you please, please chat me. G

Epic Man: Immediate Release of Test Results and Anticipatory Guidance

New performance! Epic Man, the version for Immediate Release of Test results and Anticipatory Guidance.

In the era of the 21st Century Cures Act and Information Blocking Statute, how else are we going to each folks what to do?

Just put on an Epic UGM 2023 hat, get the 4-strings out, and plug away. Here are the lyrics:

& Epic man. Open Results 2023

She checked my templates last night preflight.

Zero hour, eight AM,

I’ll be deep in my Inbasket by then,

I miss paper charts so much, I miss my life,

It’s lonely in HyperSpace,

On such a timeless flight.

And I think it’s gonna be a long long time

Before I delay a test result again

I’m not the man they think I am at all,

Oh, no no no.

I’m an Epic-man, Epic-man sharing test results instantly

7 days ain’t the kinda way to delay your results

In fact, info blocking is now banned

And there’s no one here will defend you, if you did

And some results, patients won’t understand

Anticipatory guidance is our plan

Epic-man, Epic-man.

And I think it’s gonna be a long long time

Before I delay a test result again

I’m not the man they think I am at all,

Oh, no no no.

I’m an Epic-man, Epic-man sharing test results instantly

And it ain’t gonna be a long long time

And it ain’t gonna be a long long time

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