Genetic Testing May Provide Faster Path to the Right Fibromyalgia Medication

Genetic Testing May Provide Faster Path to the Right Fibromyalgia Medication

By Ginevra Liptan, MD

Ginevra Liptan, MD

Editor’s Note: Ginevra Liptan, MD is both a fibromyalgia patient and physician specialist. Her new book The FibroManual: A Complete Fibromyalgia Treatment Guide for You…And Your Doctor is available now.

Someday in the not-so-distant future, before your health care provider decides which medication to prescribe for your fibromyalgia symptoms, they might first swab your cheek for a few cells and send them off for genetic tests. The genetic data hidden in those cells might reveal which medications you are likely to get benefit from, and which to avoid due to higher chance of side effects.

It sounds futuristic, but in fact this technology is available now, though it has not been widely adopted by medical providers. Testing for a person’s gene-drug interactions is called “pharmacogenetics,” and is a rapidly expanding field with multiple companies now offering panels of tests targeted to different illnesses.

Certainly genes don’t tell the whole story, and how we respond individually to a medication depends on multiple other factors in our environment. But we have long known that genetic makeup plays an important part in how we respond to different medications. Health care providers often see that our patients are likely experience a similar response to medications—good or bad—as their family members.

Using family members’ response to guide our prescribing is not very scientific. It would be far better to obtain specific, personalized genetic information for a patient prior to prescribing any medication. It would give us a head start to choosing the right medication, and shorten the painful trial-and-error process that we otherwise go through before finding effective treatments.

Having this head start could be especially valuable in fibromyalgia, as we tend to be extra sensitive to medications and more prone to side effects. So I was excited to learn that the first genetic testing panel devoted specifically to fibromyalgia was just released by Proove BioSciences in June 2016. In addition to testing for genes related to processing of typical fibromyalgia medications, they went one step further. According to Ashley Brenton, Ph.D., associate director of research and development at Proove, their test also assesses abnormalities in 11 genes that influence pain-processing and that affect your likelihood to develop fibromyalgia.

We already know that there is some genetic predisposition to developing fibromyalgia, from the simple fact that it tends to run in families, just like diabetes and many other chronic illnesses. But there is not one specific fibromyalgia gene. Rather there seem to be multiple genes that play a part in setting the stage for fibromyalgia, and the Proove fibromyalgia panel tests for the well studied of these genes. Primarily these are the genes that affect how well the brain makes and process certain chemicals like serotonin and norepinephrine, which are very important to regulating pain levels.

Dr. Brenton tells me they are also actively doing research on the genetic samples they collect. This type of research might help to discover new information about how to diagnose and treat fibromyalgia.

While seeing what your genes might reveal about pain-processing is fascinating, the component of the Proove fibromyalgia panel addressing specific gene-drug interactions is more practically useful. These gene-drug interactions come down to two factors: First is pharmacokinetics, or what your body does to the drug. The second is pharmacodynamics, or what the drug does to your body. These factors predict which drugs are most likely to be effective, which might cause side affects, and which might require close monitoring or dosage adjustments.

Let me give you some real-life examples from my practice (not their real names): “David” is in his 50s and has fibromyalgia and severe depression. Over the years he had tried, and failed miserably, all antidepressants that act by boosting serotonin levels in the brain, called SSRIs. His pharmacogenetic testing showed that he was a “poor responder” to that entire class of medication, but was likely to respond well to a different, less commonly used, type of medicine. And indeed he did.

The gene that showed up on David’s testing is one that affects how well our brains recycle serotonin, an important brain chemical associated with depression. Every human has this gene, but some of us have the long version, and some of us have the short version. Scientists have found that those that have the long version of this gene tend to respond well to SSRI medications with few side effects, but those that have the short version tend to find less benefit and more side effects. This is an example of a genetic difference affecting how a drug affects your body (pharmacodynamics).

Now let’s talk about another patient of mine, “Mary,” a very petite woman with a big personality who tells me that she requires “horse tranquilizers” to keep her asleep during surgery. She always warns the anesthesiologist that she will need high doses of medications to avoid waking up during surgery. This is because her body rapidly gets rid of that type of medication, and is a perfect example of how your body affects a drug (pharmacokinetics).

We all vary in how quickly our body gets rid of medications. This is determined by the genetic makeup of our liver enzymes that process medications. Because we know which drugs are processed by which enzymes, genetic testing can predict who might need dosage alteration of certain medications. There are several opiates that vary dramatically in how well they are processed by the body, including codeine, oxycodone, and tramadol. Having this information beforehand could vastly improve the process of finding the most effective, and safest, dosage of pain medications.

The science of gene-drug interactions is still young. This type of testing is expensive, but more insurance companies are starting to see the benefit and pay for certain types of pharmacogenetic testing. The Proove fibromyalgia profile is quite new, so many doctors and insurance companies are not familiar with it yet. If you want to learn more about this testing yourself, go to http://www.proove.com. Other companies that do non-fibromyalgia specific gene-drug testing include Genomind, PGXL Labarotories and Rxight.

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Authored by: Ginevra Liptan, MD

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[…] Genetic Testing May Provide Faster Path to the Right Fibromyalgia Medication […]

I recently had that genetic test done no one can tell me anything about it not the pharmacist not my GP,can tell anything about what all this stuff means. I had another test done along time ago from my phycologist.It told me what antidepressants worked and it wasn’t as accurate as you would think.. I guess I’m a little disappointed because of the way it was presented. A nurse came in took a mouth swab and this was for my cardiologist I won’t see him again for another year. The nurse they did it said I can take it to my pharmacist and they will know what to give me what not to give me or my GP and that’s about it nobody’s gone over these tests with me nobody knows how to go over them. Not every doctor out there understands these test.Its a good tool but not all drs are up on genetic testing and I see this list of medicine that I’m on and it scares me more than it then it helps me

Dr John Quintner, Consultant Physician in Rheumatology and Pain Medicine (retired)

The following extract is taken from the website of Proove BioSciences: “The diagnosis and treatment of fibromyalgia is challenging. With discoveries in the pathogenesis of fibromyalgia and centralized pain, researchers are able to identify genetic markers associated with the condition. By evaluating genetic variations in fibromyalgia patients—and assessing patient-specific clinical data—the Proove Fibromyalgia Profile delivers genetic insights and clinical recommendations for individual patients.”

However, as Dr Liptan points out, pharmacogenetic testing is relatively new and expensive. Therefore any of your readers who are contemplating such testing might like to know that two articles recently posted on the blog “Fibromyalgia Perplex” raise serious questions as to whether the symptom cluster known as fibromyalgia constitutes a discrete and diagnosable disease entity, and whether or not “centralized” might be acceptable as a pain descriptor.

Here is the link: http://www.fmperplex.com/2016/08/30/most-fibromyalgia-research-is-worthless/

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Maureen

I had 3 of the PROOVE mouth swab genetic tests done over ‘3 years ago’ in CT.
The results answered a lot of questions re: why I was very negatively sensitive to many of the drugs I had been put on.
It took about 5 yrs for my doctor and I to ‘fine tune’ my meds down to what I can and cannot take.
The medications I have been on the past 3 yrs. are ‘just enough’ to lower my pain level but NOT QUITE enough either. But I learned why I cannot take higher doses.
The tests help us learn why higher doses made me sick with side effects.
The Proove testing truly helped narrow things down for ‘my body’.
That is why when I moved to Fla. 2 years ago and the doctors here would not hear me out and ‘immediately’ began changing my meds, without discussion with me, and which caused so much more pain let alone great side effects and suffering.
It took well over a year to find a doctor to hear me and bring me back to my original meds. Talk about stress and anxiety!!
And then after just 3 visits with her… she left that large group practice for reasons that I surely understood!
Now I am told by her colleague there that my meds will be changed again soon.
I could cry.
I highly recommend that if anyone has the opportunity to go ahead and have the tests done.
I learned a lot about how my body does and does not process the drugs I put into it. Very educational!

Carol Hammond

I am interested in DNA TOO. I am a pain patient and last year my pain Clinic had my DNA done. In this particular case they were looking at whether or not I have a an addictive personality and my pain threshold. As it turned out I don’t have an addictive personality and I have high pain threshold thank God. I was relieved and felt glad I had it done. BUT what if my outcome had turned out differently?

I had an appointment with my heart Dr and just for fun I asked him what he thought of DNA testing? He said he didn’t feel that we can have faith in the results it is in its infancy. I sort of felt the same way but decided that I would use it as a tool when my pain Clinic finally got the word that they had to get people off pain medication. This actually happened as I predicted.

If you look up the DNA company “Proove” you will see some problematic editorialso about them. The company must be reputable and consistent. That is the company that did my DNA. It is early I think to completely put your faith in it.

Mark Ibsen MD

Thank you Dr Liptan.
Great summary.
I have used these tests on many of the opiate refugees of Montana to “proove” that the cyp450 pharmacogenetic profile explains why they needed huge doses of opiates.
These patients were all accused of running a family “business”, whereas, the real thing that runs in families: genetic traits!
These patients ALL required higher doses than any state limits that have been imposed.
We are all grateful for your contribution to this conversation, bringing science back to the practice of medicine.
A personalized practice.

MichaelL

I seems that what you described might also be useful in determining the pharmacogenetic response of patients to treatments of things like peripheral neuropathy, or more specifically, that encountered with cauda equina syndrome. Most that have this are post surgical complications. Mine happened after an explosive fracture of L-2 in the spine, sending fragments into the cauda equina. But, the response to some medications seems that they could be dangerous, gabapentin specifically. But, other medications like baclofen and Tramadol also seem to be suspect, as well. Ringing in my ears, waking up with confusion and stumbling, and other times with a barely palpable pulse and a “loopy” feeling in my head, make me worry. Will I wake up dead because the medications are actually dangerous?