The tell-all-test could save your life

Simple test tells you medications to avoid, identifies gene mutations

By Nikki Kimbleton - The Morning Show anchor , Jodi Mohrmann - Managing Editor of special projects

JACKSONVILLE, Fla. - If you're feeling tired or sick all the time, there's a tell-all-test that could help identify why -- even tell you if could face adverse reactions from popular medications. And as we found out, a lot of people may not know this simple test is available.

Because I had some of these symptoms, I took the test.

These issues are more common than you may think. First off, four out of 10 people are living with a gene deficiency that could be the cause of feeling tired or getting sick. The deficiency could lead to dozens of other health problems, too. This test can identify that.

According to the Food and Drug Administration, adverse reactions to prescription drugs is the fourth leading cause of death -- beating out car accidents and diabetes. Each year, over 2 million people have bad reactions, and this test can help identify this as well before it happens to you.

"We do medicine right now and it's called trial and error. No one will tell you that, but that's exactly what happens," said Todd Troxell, a Jacksonville pharmacist.

In his career, Troxell told News4Jax he has seen far too many patients get sick while taking medicine to get healthy.

"If you ask your physician if the medicine they give you is going to work, they cannot tell you that. They cannot not tell you that," Troxell explained.

Not unless you have specific information about your body, he added. It's something called pharmacogenetic testing. You swab the inside of your cheek, then send the sample to a lab -- like the one we used -- called Rxight. The test reveals information about your genes and how you react to hundreds of different medications. 

As I mentioned, I took the test and got my results back in just two weeks, I then reviewed them with Troxell. He told me that I had several things I should be concerned about.

"You have to be careful with anti-depressants," Troxell explained to me. "You are actually a rapid metabolizer for some of these medicines. So, you would even need to take a higher dose than someone would give you."

The test results show you several things about medications: Which ones you shouldn't take and why, when you should proceed with caution, and what is safe for you.

While I had red flags in several categories, a medication that caught my attention was Plavix, a well-known blood thinner. But I learned, the way my body can react to this particular medicine could be deadly.

"So the potential is you that could bleed instead of it being effective as an antiplatelet product," Troxell told me.

That's a scary, possibly deadly situation. Which is why Dr. Dominick Angiolillo with UF Health believes genetic tests like these are crucial. 

"We've recently implemented genetic testing as part of our standard of care in our patients undergoing what we call coronary stent procedures," Angiolillo said. 

If you go to UF health with a heart attack or chest pain, you'll undergo a similar swab test.

The big difference though, since time is so crucial, they only test a specific gene that can react with heart medications and they get the results themselves. 

"It's incredible. 60 minutes and we have the results of a specific gene that is involved with the metabolism of a specific drug that we typically use in patients undergoing coronary stenting," explained Angiolillo.

WATCH: Dr. Dominick Angiolillo talks about the test

It helps doctors at UF Health avoid potentially deadly reactions. And, it's not the only world-renowned facility that feels these tests are invaluable.

Michael Schuh is a pharmacist at Mayo Clinic Jacksonville. When asked if he thinks pharmacogenetic testing can save lives and vastly reduce the number of adverse reactions, he answered yes. Plus, he said that someday soon, every Mayo Clinic patients will take the test.

"We are working in that direction right now," Schuh said. "This can not only save lives, it will guide therapy and avoid extra doctor visits, emergency room visits and hospitalizations. This can guide therapy away from those therapies that don't work to those therapies that work better or those that will work optimally."

WATCH: Michael Schuh's uncut interview

Schuh and many other doctors we interviewed feel these pharmacogenetic tests are important -- not just because they stop you from taking the wrong drugs -- but because they can uncover so much more. That leads us back to my results.

Like many of you reading this, I am always tired and I get sick way more than I think I should. I have chalked this up to having a 3-year-old and working very early hours on The Morning Show. While those may add to the problem, it turns out that I have been living with a very common gene mutation, but never knew it.

Troxell first told me the news. He said, "You came in as an MTHFR deficient individual."

I had to get him to repeat that several times because I had never heard of MTHFR. But the more I learned, the more I wished I would have known a lot sooner.

"The MTHFR gene is a big deal," According to Dr. Jon Repole with Jacksonville Health and Wellness. "It's primarily because it's involved in a process called methylation, which relates to almost every part of the human body."

There are several websites that explain the problem in medical terms, but basically, my body can't dump toxins like it is supposed to. As a result, they get into my bloodstream.

Plus, the testing confirms I'm not getting enough of some crucial vitamins, and without specialized supplements, it's really hard for me to stay healthy.

Dr. Repole explained it to me like this. "You can have two people in a room and a virus enters it. One person gets sick and the other doesn't. The one who gets sick very likely has a mutation of the MTHFR gene."

Those who have mutations of the gene are not just at risk for the common cold, according to Repole. He says without treatment, this can lead to cancer, Alzheimer's, cardiovascular disease and a whole lot more.

What's really scary, almost half of you reading this have some version of the MTHFR mutation. But, there is a simple solution.

"It's an easy fix. With MTHFR, it's the cliché we have always heard. Eat your fruits and vegetables, but we kind of bring it into a different realm. Eat your veggies, green leafy ones. If you do that every day, you have an added protection, even if you are carrying the mutation for the gene," Repole explained, 

And the earlier you know about the mutation, the better. That's why Repole encourages people to get tested.

"Digging one extra layer deeper can uncover a simple problem that can be fixed almost instantaneously," he said.

He points out again, that's because most people can fix this deficiency easily with diet, specialized supplements and changes in their environment.

In fact, that's why some Jacksonville pediatricians are trying to catch this early with their patients. Dr. Aylin Ozdemir, known in the local community as Dr. O, is among them. She is listed on several MTHFR help websites as one of the top doctors in our region to consult with for answers and testing.

Dr. O has been researching MTHFR mutations for more than eight years and is considered an expert on the topic. She's been so successful in treating pediatric patients with the mutation, that she is now seeing and treating adults as well.

As far as getting the tests, it's very rare that any are covered by insurance. If you are a patient with Dr. O, she will order the tests as part of your consultations. 

I took the Rxight test through Trox Pharmacy for $399, located at 14965 Old Saint Augustine Road in Jacksonville. You can reach the pharmacy by calling (904) 500-8769.

Rxight is one of the only tests that identifies hundreds of prescription drug interactions as well as well as testing the MTHFR gene for mutations. Other pharmacogenetic tests typically don't test for the MTHFR gene.

For example, it's not part of the test currently used at Mayo Clinic. Specific MTHFR testing usually costs less than $100 and is part of your first consultation at Jacksonville Health and Wellness

It's important to note that while there is currently heavy research and clinical trials to find out more about MTHFR mutations and the links to illnesses like cancer, there are some doctors who I spoke with who are skeptical and waiting for more conclusive information. 

There are also those who feel that testing for MTHFR and the claims from doctors linking this to a vast number of health problems are bogus and irresponsible. Take for example, Dr. Paldeep S. Atwal , a board certified clinical geneticist and medical biochemical geneticist at Mayo Clinic.

Dr. Atwal said, "In my profession and specialty of medical genetics training, we have worked hard to correct these mistruths. An American College of Medical Genetics Practice Guideline clearly states there is lack of evidence of MTHFR polymorphism testing and actively discourages such testing."

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