Stories from the Front Lines—Precision Medicine in Practice

By Nephi Walton, MD, MS, FACMG, FAMIA

As I sat at my desk, toiling over an NIH  grant at my prior place of employment, I looked up to see my boss standing in the doorway of my office. Since this was a rare occurrence, I figured either something very important had happened, or I had done something bad. Without a second of small talk or even a “hello,” my boss said those words that forever changed my life:

“I want you to take over pharmacogenomics.”

I didn’t know much about pharmacogenomics, but I was pretty sure I could spell it. I Googled it just to make sure, and then I said, “Sure, why not? It’ll be a great experience.”

Coincidentally, at our clinic’s last review of patient referrals, we had turned down seeing several patients with pharmacogenomics tests because we felt that it was outside our scope of practice. Medical geneticists are possibly some of the worst physicians to ask about prescribing anything. I have probably prescribed more medications to my children than to patients. I decided that if I was going to take over pharmacogenomics, I needed to get into the trenches, so I volunteered to see the next batch of pharmacogenomics referrals that came through the system. These patients tended to be people who had depression and had difficulty finding an effective medication. Therefore, they had ordered, or requested to order, pharmacogenomics testing through their primary care provider, who usually did not understand pharmacogenomics.

My first patient encounter did not go well. While I’m sure I presented things more eloquently than this, the way the conversation felt it went was as follows:

Me: “These are genes that affect the way medications are metabolized in the body. This impacts the way medications work for you and determines which ones might be the most effective or what dosing might be required.”

Patient: “Ok, yeah … that’s why I had my doctor order the report.”

Me: “Well, see, this report shows that this medication that did not work for you … won’t work for you.”

Patient: “Right. I know that medication does not work for me. That’s why I quit taking it.”

Me: “Yep.”

Patient: “Can you prescribe me something that does work?”

Me: “Well, I typically don’t manage depression or really prescribe anything, and when you talk about changing medications, that really should be done by the physician that manages your depression.”

Patient: “You mean the one that sent me to you because they didn’t understand the report?”

Me: “Yep.”

Patient: “So could you work with my primary care physician to help them order the right medication?”

Me: “You really wouldn’t want that. I’m not a pharmacist, and I probably haven’t even prescribed half these medications since residency. I’m not even sure what this one is. How do you pronounce it?”

Patient: “Can you refer me to a pharmacist?”

Me: “Well, it turns out that most pharmacists don’t get a lot of training in pharmacogenomics, either. That’s why you got me.”

Patient: “This seems to have been a complete waste of time.”

Me: “Word! Would you like me to explain genetics to you so you can get some value from this visit?”

Training in pharmacy programs has improved since this ill-fated encounter, but the problem remains. Despite having successfully deployed more than 10,000 pharmacogenomic tests during my current employment at Intermountain Health, we continue to get these referrals in our medical genetics clinic from primary care physicians who feel uncomfortable ordering or utilizing these tests. We do have some pharmacists who understand pharmacogenomics, but there is not a billing model to account for their time. We have met with our primary care physicians, and they are truly interested in this technology, but being pressed for time to see as many patients as possible, they can’t afford to do anything that significantly increases the time of patient encounters. We have focused our efforts on training frontline physicians and building out decision support that can provide quick point-of-care information.

Still, the question remains: How can we effectively integrate all the right players, at the right time, to efficiently manage patient medications with pharmacogenomics? How can we bill for pharmacists’ time to help patients and providers manage their medications based on their pharmacogenomics? Systems do not scale well if there is not a reimbursement model to back them up. Clinical genetics is a perfect example of that. We are still looking for answers. If you have them, tweet them to me @geneticks with hashtag #pgxanswers. As our knowledge in pharmacogenomics increases, we need to find innovative ways to scale delivery models across healthcare systems.

In the meantime, I will continue to limit my prescribing to antibiotics for ear infections and gene therapy. It’s an exciting time. Let’s keep innovating.

Nephi Walton MD, MS, FACMG, FAMIA Nephi Walton completed his MD and MS in biomedical informatics with a focus on machine learning/artificial intelligence at the University of Utah School of Medicine. He completed a combined residency in pediatrics and genetics at Washington University in St Louis, Missouri. He board certified in both clinical genetics and clinical informatics. He has worked with two of the largest population health sequencing programs in the U.S.; MyCode at Geisinger and HerediGene at Intermountain Health. He currently serves as the associate medical director of Intermountain Precision Genomics where he co-leads the HerediGene genomic sequencing return of results program and runs the Intermountain Precision Genomics Whole Genome Sequencing clinic. He also serves as the associate medical director of Intermountain’s sequencing laboratory. He was past chair of the American Medical Informatics Association Genomics and Translational Bioinformatics Workgroup and has presented at several meetings on translating the use of genomics into general medical practice, something he is actively pursuing at Intermountain Health.

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