EPtalk by Dr. Jayne 3/16/17

It’s been a whirlwind of a week with two more trips to the hospital, one planned and one not. Long story short, though, I’m back in the air and off to see clients, which is a good feeling.

I’m also headed somewhere warmer than my current snowy state, which is definitely something to look forward to. Many of my spring plants were up or blooming when the snow hit, so the garden will have a bit of a setback this year. I’m just glad I’m not traveling to central Florida, where CNN reports that a cobra escaped captivity and is now in the wild.

In follow-up to my post about having a partial EHR outage this weekend, the vendor never did send an update about the situation. We also had an outage today of the patient portal, and again after 12+ hours, no follow up. If they’re not going to follow up, their emails shouldn’t say they will send follow-up emails as further information becomes available.

In healthcare IT, we tend to think about our work within the contexts of inpatient vs. post-acute vs. ambulatory vs. community vs. population health, etc. As humans begin to spend more time in space, that’s going to be the next frontier of healthcare IT. NPR recently reported on microbiologist/astronaut Kate Rubins, who was the first person to sequence DNA in space. I was interested to learn about the microbiome of the International Space Station, something you don’t hear about much but that opens the door for some unique research activities.

In other news scientists in China have completed gene editing on viable human embryos using the CRISPR technique. Although the study was small and the results were not perfect, they were promising. Gene editing could reduce the incidence of heritable diseases, but we have a lot to learn about the technique, impact, and ethics of doing so.

I’ve certainly got genetics on the mind following my consultation with the genetic counselor earlier this week. Although she didn’t give me the initial speech about the science of genetics, I appreciated that she didn’t assume that I had done a ton of research or had preconceived notions about what we were talking about. We talked about my specific concerns based on family history as well as what kinds of testing are available and the ramifications of having positive testing.

Although the Genetic Information Nondiscrimination Act of 2008 restricts the use of genetic data in health insurance and employment issues, it doesn’t prevent issues with the underwriting process when you’re talking about life insurance, disability, long-term care coverage, and more. One of the first questions she had for me when we were talking about testing was whether I had addressed those types of coverage or not.

Although I’ve worked out the life insurance and disability pieces, I haven’t addressed the long-term care coverage issue. Still, I decided to go forward with the testing, but on a limited basis, looking only for a couple of specific mutations. There are plenty of panels available that test for up to 80 genes, but I’m not going to go looking for something that isn’t a concern and wouldn’t potentially change my management plan for preventive screenings.

Based on the dramatic increase in our knowledge of genetics over the last decade, we agreed it would be prudent to meet again in a couple of years and discuss whether there are new recommendations for testing someone in my situation. To answer the previous reader question, she uses panels from Myriad Genetics.

We also walked through a couple of risk models based on my family history without the genetic testing component. This is where the discussion quickly became academic, because one of my personal risk factors is considered a “borderline” risk factor in that some models consider it a risk and others don’t. When the model is run with the risk factor in place, my lifetime risk of breast cancer is pretty alarming. Without the risk factor, the risk is cut in half. Even with the diminished risk of the second model, it was enough to qualify me for a high-risk screening program, which seems like a reasonable option compared to the alternatives. We’ll have to see what my insurance thinks, however.

Being in the high-risk program at the medical center is tied to their imaging center, which of course involves hospital facility fees for the studies. In my area, though, the cost difference for a screening mammogram isn’t much more than at the independent imaging center where I had my previous studies, so I opted to get mine done at the hospital while I was there. I realized as I was getting dressed, however, that moving my care to the hospital meant giving up the “real time” reads done at the independent center. I hadn’t thought of that prior to the test, which made me wonder how many other patients might not have thought of it. It really is amazing to me how easily your reasoned clinical and analytic process can go out the door when you become the patient.

My experiences as a patient over the last few weeks have given me a better understanding of how hard we make it for patients and their caregivers and how much individual variation there really is in our healthcare system. It also made me realize that despite thinking I had a pretty solid handle on my family history, there were quite a few questions I couldn’t answer. Most patients probably don’t have as much information as I walked in there carrying and that certainly impacts the patient experience and the specificity of the counseling.

It will be a while before I get the genetic testing results back, and in the mean time, I’ll be reading up on some novel genes that the counselor mentioned may have interesting implications for my family but that aren’t being commercially tested yet.

Friday is Match Day, when thousands of medical students learn which residency programs they’ll be headed to for the next three to seven years. Good luck to everyone waiting for their envelope. And to those who didn’t match to the residency of their dreams, keep your chin up and learn all you can wherever you go.

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