Skip to main content

Precision Patient

Precision medicine, or "a medical model that proposes the customization of healthcare, with medical decisions, treatments, practices, or products being tailored to the individual patient" is on fleek.

Or fire, or lit, because fleek is so 2017.

This is what happens when a Gen X'er tries to use the language of those under 25.


Online, at a conference, or even in your doctor's office, you've probably heard this buzzword. If you're an MD reading this, I'm sure you've heard this term used in various circles and may have even used it yourself with patients or in a presentation.

Precision medicine is exciting. Because, SCIENCE!

It seems every year, medical technology is advancing exponentially in how we understand disease and is going to save a lot of lives and reduce a lot of pain and suffering. How can you NOT be excited about precision medicine?

In my world of Crohn's disease, things like "therapeutic drug monitoring" and "biomarkers" are all the rage. Doctors are looking for simpler ways to identify patients who are in a disease flare up or might need a dose change to their medication. They're trying to reduce costs and how much radiation exposure we have or, most importantly, how much bowel prep we have to drink. All great ideas.

So why does precision medicine make me nervous?

Because I'm worried the subjective experience of the patient (deemed "clinical symptoms") will be put on the back burner to the data. If the lab numbers don't jive with what you are telling your doctor, the results can be anything from a sense of not being believed and frustration to feeling like you were gaslighted to not getting proper treatment.

Let me explain myself.

From what I've read, these new treatment strategies work for the majority of patients. Up to 80% of those who are in the research studies and clinical trials. But what happens if you're not in the 80%?

What happens if you're an outlier?

I have weird Crohn's disease. My 16 year path has been fraught with a diagnosis reversal for about a year, a slew of inconclusive or even contradictory tests results, and - my personal fav - test results that are right on the line of abnormal most of the time. It's created a lot of cynicism, even anxiety, about medical tests.

To top it off, an ignored fistula on one of my first barium studies - if I may quote my then doctor "The odds of it being a fistula are so low it's probably an artifact" - led to Joffrey, my entero-vaginal fistula that has literally zero good treatment options.

My Crohn's is limited to the small bowel, although my last MRE showed possible activity in the sigmoid colon after a normal colonoscopy a few months earlier (see what I mean?).  Another MRE showed possible activity in the jejunum. Another is totally normal, while at least 1 other wasn't very helpful because my bowel didn't expand enough to get a good read. My doctor and I have concluded the only way to get a good gauge on my disease activity is through a capsule endoscopy.

When it comes to biomarkers - things in your blood or stool that signal disease activity, it's the same crap. I'm one of the one-third of IBD patients who do not have elevated c-reactive protein (CRP). I can count on 1 hand how many times CRP has been elevated for me. Sedementation rate seems to do a better job, but it's rarely off the charts as one would expect when I'm most symptomatic.

The biomarker getting a lot of attention in IBD these days is fecal calprotectin (FC). FC is essentially a chemical released by your intestines when they're inflamed. It does a pretty good job in identifying active IBD, with the exception of people with isolated small bowel Crohn's disease.

Cool.

The one FC test I've had was relatively normal, to which I said to my doc "So I literally have no easy way to monitor my disease activity."

Her: "Correct."

I'm fortunate to have a doctor who understands just how atypical my case of Crohn's is. But as precision medicine becomes more and more of a thing, it will guide policy including how insurance companies decide to cover things.

For example, I've been on vedolizumab for a little over a year now. And it works quite well.  But I noticed some increase in symptoms in the last 2 weeks of my 8-week infusion schedule this past summer.  I keep notes in my phone about major symptoms so I don't forget, and there was a clear pattern of increased symptoms the last 2 cycles. So I brought it up at my appointment and my doctor ordered a blood test to measure the levels of the drug in my blood right before my next infusion - therapeutic drug monitoring. Standard practice these days.

The research literature says a therapeutic drug level for maintenance vedolizumab is around 17. When I get into the weeds of the studies that support this, the most often cited study for vedolizumab, the GEMINI study, has around 200 patients. GEMINI-2 has around 80. If I add up all the patients in a review of research on vedolizumab drug monitoring, the number is just shy of 500.

My nerdy statistical brain says 500 is enough for plenty of statistical power. In other words, the odds that the numbers coming out of these studies are wrong are very small.

But can policy, whether it's what my doctor will do in terms of my medication or what my insurance will pay for, be decided based on 500 people? What about the 20% or so that seem, across all of the studies, to not fit the model or trend?  What about them? Nobody seems to write about much, just reports their presence in the context of the 80% awesomeness.

My blood test said my vedolizumab level was 20. Just enough over the cutoff to determine a dose change wasn't going to happen without a test showing disease activity. My report of symptoms wasn't sufficient any more. The next step is the capsule study, which I have yet to schedule because, honestly, I'm afraid to do it.  Not because it will get stuck. But what if it shows nothing?

That should be good news. That would mean my symptoms are due to something else, maybe some bacterial overgrowth or malabsorption issues.

The capsule is really good at finding things that the other tests cannot. And I would have given my right arm to have it done 15 years ago when my diagnosis was put into question (insurance denied it as experimental). But today, with all of my experiences, I've opted to wait it out and see how bad it gets. Since it's not that bad and my symptoms are inconsistent, I will wait. Because, psychologically, I'm not prepared for it not to give me an answer.

And I'll watch the precision medicine landscape continue to change in IBD with every study, every conference presentation, and every insurance policy shift. And I'll hope those of us outliers won't get lost in all of the focus on data as an unintended consequence.

Popular posts from this blog

Let's Talk About "All In Your Head"

If I had to vote for a phrase, just 4 short words, that cause more problems in our society than most others it would be these:
All in your head.
To hear these words as a person with medical symptoms brings about such a cascade of thoughts. Anything from "My doctor doesn't believe me" to "Are my symptoms really happening?" with corresponding emotions of anxiety, confusion, anger, even rage.
I spend a lot of time undoing the damage these 4 words can do in the patients I see. They've been told, either directly or indirectly, their disease is psychologically based. And that means it's really not that bad, that they should just get over it and move on. It's a running thread in most of the patients with any "functional" diagnosis I've seen, such as irritable bowel syndrome, but also appears in those with "organic" conditions - those diseases perceived as real like inflammatory bowel disease.
These 4 words are part of the fundamenta…

Bubbles

I've been thinking a lot about how we live in an era of infinite access to infinite information (thanks, internet tubes!) yet we still fall into many of the well-established psychological laws, if we can call them that, of human behavior.  Don't worry, this isn't going to be some drawn out post on social psychology. Wikipedia is great for that.

I want to talk about bubbles.  Information bubbles, that is. And how each one of us lives in one to some extent, no matter how educated or enlightened we see ourselves to be. And even if we know we live in said bubble, it takes being shown information that directly conflicts with how you think things are, or should be, and the result is you feel kinda ew - the technical term for "ew" being cognitive dissonance.

I live in a bubble.

In my bubble is the world of academic medicine, academic health psychology, and a circle of psychologists dedicated to people living with chronic digestive illness.  I live in Chicago, a major me…

Medical PTSD

“It is just an illusion here on Earth that one moment follows another one, like beads on a string, and that once a moment is gone, it is gone forever.”  - Kurt Vonnegut, Slaughterhouse Five 
A few years ago, my gastroenterologist wanted me to have something called an esophageal manometry to better understand how my newly diagnosed eosinophilic esophagitis may have been affecting how the muscles in my esophagus were functioning.  I work with the guys who wrote the book on esophageal disease, and these guys do a lot of manometries. I know all about esophageal manometry.

My mind immediately went to images of a small bowel enteroclysis I'd had at least a decade prior. My body grew tense and it was almost as if I was back in that cold room with the cold metal table and the cold radiologist, who just didn't believe me when I told her how bad my gag reflex was before she placed a tube down my throat to inject my small intestines with barium.

It took what seemed like forever to get th…