How DNA testing can help in mental health

This post is a dramatic recounting of a mental health patient who used clinical pharmacogenetic DNA testing to improve their situation. This story has turned out to surpass our expectations in how much this individual was helped, and we felt compelled to tell this story! Not only were we able to identify that a medication this person was on had an important personal use warning based on that patient’s genetics, but also another massive change took place for the benefit of this patient afterwards. In a subsequent results disclosure, by the ordering doctor that is working with Merogenomics’ clients, the doctor came to the conclusion that the patient was actually previously misdiagnosed! This means that the patient was being treated with a dangerous medication for a condition that they were potentially not even afflicted with!

But let’s back it up.

First, let’s dive into mental health overall and see how one type of DNA tests can be so very crucial for individuals experiencing different mental health conditions. In essence, we are talking about any mental health patients that as a consequence of their experiences, are being medicated.

We at Merogenomics believe that all such patients should strongly consider taking a pharmacogenetic DNA test. A pharmacogenetic DNA test interprets your genetic mutations in terms of how your body handles different medications. Most often it is based on understanding how the different genetic mutations impact how your body metabolizes these medications. We know we offer access to one of the best DNA tests for medications on the market and that is why this is a very passionate topic for us because access to this knowledge is potentially crucial to a mental health patient. Let us explain why.

There are two reasons consider:

• Mental health patients are one of the highest risk groups of needing to switch from one type of medication to another in an attempt to alleviate their negative health experiences.
• Among Merogenomics clients thus far, the highest frequency of warnings observed in pharmacogenetic DNA test results for any type of medications, the medical specialty that consistently shows to be most affected is that for medications used in mental health.

You can see in this graph we have grouped by medical specialty the number of medications that are moderately or majorly impacted by genetics for each client - and psychiatry (mental health) immediately jumps out.

In other words, for whatever reason, medications used for the treatment of mental health conditions are especially sensitive to an individual’s personal genetics. And it appears that often such patients experience adverse reactions to mental health medications. This is why they so often need to switch from one medication to another, just to find a solution on how to help them. But unfortunately, it is a trial-and-error process that along the way can be damaging in itself. The patient in this story definitely fit that criteria.

But it does not have to be a trial-and-error process.

A pharmacogenetic DNA test helps to stratify a patient into a specific category of normal (based on population average) versus abnormal metabolizer (anything away from the population average which is still common) for specific medications of interest. That means if you are a very fast metabolizer or very slow metabolizer, with the dose assigned to you based on the expected population average metabolism, you could be experiencing negative effects of the medication just because the dose assigned to you is not correct. For others, that same dose might be a perfect solution, but for you it will not be.

Pharmacogenetic DNA testing tells the doctor upfront how different mental health medications are handled by patients and that can prepare the doctor right away to consider a specific dose, or perhaps even just try different a medication for which that same patient is expected to be a normal metabolizer.

And mental health drugs are some of the best represented and characterized medications by a pharmacogenetic impact (impact from your personal genetics). Mental health drugs are the largest group of drugs that can currently be linked to genetics.

Therefore, the pharmacogenetic DNA test is doubly powerful. Not only does it inform mental health patients which drugs to potentially avoid or consider special dosing, but also this information can be obtained for a very large number of mental health medications. You can see this represented in the video below.

You can now see why Merogenomics is so passionate in promoting this test especially to mental health patients. We believe that this group collectively has the largest chance of benefiting from the results obtained from a pharmacogenetic DNA test.

The story of this next Merogenomics’ client perfectly represents these benefits.

Escitalopram pharmacogenetics

This particular case was brought to Merogenomics through one of our referral partners. Merogenomics has been actively searching for influencers in the mental health landscape precisely to help bring access and awareness of these tests to an audience that is still largely uninformed about the tremendous benefits of DNA testing for medications’ impact. One way we really want to amplify that information is with referral partners. To Merogenomics, an influencer is any entity that has continuous access to a specific group of people. For example, in this case the influencer that sent the referral to us was another DNA testing company working with doctors (DNA Testing Centres of Canada). But it could be anyone willing to promote the test if they also see these same benefits we are describing here. If that is you, please contact us.

Dr. Raszek of Merogenomics met with the parents of the patient to explain the above-mentioned benefits of pharmacogenetic testing. We discussed that the patient was not seeing improvement, in fact quite the opposite, despite several years of attempting to find the treatment. The symptoms had been getting worse, and the mental health condition also appeared to be getting worse. It was apparent that whatever the healthcare system was doing, it was not working effectively to say the least in this particular case. We had a chance to speak with the patient as well and the tragedy of the situation was made abundantly clear. Despite being medicated (or perhaps because of being medicated, as we learned later on), the patient was struggling with suicidal ideations. What really struck home was a comment that in effect was saying: can you imagine fighting with suicidal thoughts every day when you actually do not want to kill yourself? Hearing that felt like a punch to the gut.

Furthermore, for the medication that the patient was on, escitalopram (Lexapro), it is known that increased suicidal thoughts is one of the side effects of this drug. With such a dangerous potential side effect, and the fact that this medication is actually linked to personal genetics, we advocated for taking the test.

Since the pharmacogenetic DNA test that Merogenomics promotes is a clinical test, a medical doctor’s involvement was absolutely necessary. We worked with one of the doctors that is collaborating with Merogenomics, Dr. Denis Vincent, who has overseen a number of patients using the pharmacogenetic DNA test that Merogenomics promotes, so we knew that the patient was going to be in good hands.

Typically, Merogenomics is involved in thorough preparation of the client for any DNA test, and guiding the client through the entire process if they elect to use medical DNA testing. However, once a doctor gets the report of results, Merogenomics usually steps out of the picture and at that point the doctor takes over with patient management. Merogenomics only remains in an ancillary form afterwards.

When the results came in, as we suspected, there were number of medications with a warning use based on patient’s genetic profile. The highest level of warning is labelled as a “major gene-drug interaction”, and 7 antidepressants and one anxiolytic medication (anti-anxiety drugs) were included in this category. In addition, the second level warning, that of a “moderate gene-drug interaction” included 8 antidepressants, 9 antipsychotics, 5 ADHD medications and two more drugs. As already mentioned, mental health medications can be very sensitive to person’s genetics. To give you some context, of all of the drugs across any other medical specialty besides psychiatry, in total just 10 medications were discovered to be associated with a major gene-drug interaction warning. In addition, the patient found that 27 other psychiatry medications had minimal genetic influence, thus identifying more safe use options.

As it turned out, escitalopram for this particular patient made the list of the highest level warning for medication use. This warning indicates that personal genetics can significantly affect the metabolism of the medication and as a consequence indicate an elevated risk of adverse reaction or loss of efficacy.

This level of gene-drug interaction is reported when any of the following criteria are met:

• Metabolism is much slower or much faster than normal.
• Metabolism is somewhat slower or faster than normal, but data/guidelines indicate that a significant dose and monitoring adjustment is needed, avoidance, or the medication is contraindicated for that genotype.
• Data predicts that the genotype (identification of specific gene mutation of interest) is associated with significantly worse clinical outcomes versus other possible genotypes
• Significantly decreased likelihood of response is predicted, or in other words major loss of drug efficacy. Significantly increased risk of adverse reactions predicted.
• Increased risk of severe or potentially fatal adverse reaction predicted.
• Increased risk of severe or potentially fatal adverse reaction predicted possible, and no data exist to indicate it is unlikely to clinically manifest.

In the case of this person’s genetics, increased metabolism of escitalopram was predicted, indicating decreased exposure to the drug. This was based on the fact that this patient had mutations in CYP2C19 gene that would indicate being an ultra-rapid metabolizer of that drug, thus increasing chances of treatment failure. Rather, an alternative medication that is not metabolized by the product of the CYP2C19 gene was recommended, with many options available. As you can see, for this particular person, escitalopram was a dangerous drug to take and identification of this information with a pharmacogenetic test would have been very useful beforehand for the psychiatry doctor that prescribed it. The value of such information for a treating doctor is further underscored by the fact that this particular medication is listed on the FDA table of pharmacogenetic associations (a threshold that many medications do not meet) and the clinical validity of personal genetic influence on this medication has been so well established by now that professional guidelines for medication use have been developed in associated with genetic test results.

A further problem is that in this case, the patient recognized very early on that the medication appeared toxic and felt that this very well might not be correct medication to be on just based on personal assessment of symptoms, and unfortunately, the treating doctor at the time dismissed these personal concerns, and rather assumed that the patient was becoming being treatment resistant. As a consequence, the patient went through treatment with one of the medications that clearly could have been avoided had these results been available sooner, or if the doctor had been more keen on listening to patient complaints about medication side effects.

From desperation to healing treatment

Looking back now, with the results in hand, of course it makes sense why the patient experienced what they did, and why they might have instinctively felt that something was wrong. What was not right is that a doctor did not take into consideration this type of personal opinion into patient assessment, and that it took results of a private DNA test for a medication’s use to prove that patient concerns were very valid in this case. While we advocate for doctors in general, as the public often misunderstands the difficulty of their work, if there was one wish we could have in relation to our healthcare system it would be to somehow have a smarter system of a patient’s own assessment of experienced symptoms so that important indicators do not get missed. As a consequence of this gap, patients can experience a great deal of frustration with the medical community as they feel they are inappropriately dismissed - a refrain that we often hear at Merogenomics. We always defend doctors to the best of our ability, but it is difficult to find smart answers in such circumstances as described here.

One could say that such mistakes are bound to happen in a complex healthcare system dealing with very complex myriad of overlapping disease symptoms. We cannot just run around and blame doctors who are trying their best when dealing with the intricacies of human health. We have to accept certain risks as we continuously try to improve our healthcare system and minimize such events. But sadly, in this case, this story gets even worse!

When Dr. Vincent was dealing with the patient to provide the results of the medications DNA test, he believed that the patient might have been misdiagnosed for the mental health condition being treated with this dangerous drug: for depression and anxiety but instead the patient was ADHD.

The other sad part of this story is that the patient was suspecting this already and asked the previous treating doctor to test for ADHD many years ago, but unfortunately was unable to convince the treating doctor. Once again, the patient was dismissed. We understand the dangers of self-diagnosis, but in retrospect, this once more turned out to be another tragedy in its own right. That is two instances where the patient, in a desperation to find a better solution, listened to their own understanding of symptoms to find a potential way out. In this case, the patient turned out to be correct and the past treating doctor made the mistake of not listening to patient concerns.

Instead, Dr. Vincent was able to prescribe some medication for patient to start taking right away.

Even better, Dr. Vincent did refer to the pharmacogenetic list of ADHD medications to determine what medication the patient should be started on safely. Literally, after taking first dose the patient immediately did feel better, and as of this writing, continues to improve. In the meantime, the patient is still on escitalopram while Dr. Vincent is stabilizing the patient first on the ADHD medication to subsequently slowly take the patient off of escitalopram and replace it with any medication from the pharmacogenetic DNA test results list of minimal gene drug interaction.

We truly could not have asked for a better outcome as a result of this simple DNA test, especially when a prior problematic situation has been turned around to help the patient.

In retrospect, it is very tragic that a person had to suffer the consequences of being inappropriately medicated and also being misdiagnosed for so many years. It is also tragic that such powerful technology as pharmacogenetic DNA testing that can help doctors so much with improved medication selection for patient treatment is still so far removed from a normal course of action. We cannot wait until this becomes a standard approach, but in the meantime, we provide private access to such technology. In this case, it has managed to help the patient tremendously. As mom of the patient put it, “ It has been a long 10 years of suffering […] we are so very grateful for this next chapter”.

We hope we can rewrite a new chapter for many more mental health patients.

This article has been produced by Merogenomics Inc. and edited by Jason Chouinard, B.Sc. Reproduction and reuse of any portion of this content requires Merogenomics Inc. permission and source acknowledgment. It is your responsibility to obtain additional permissions from the third party owners that might be cited by Merogenomics Inc. Merogenomics Inc. disclaims any responsibility for any use you make of content owned by third parties without their permission.

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