A Genetic Test Catches a Toxic Treatment
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A Genetic Test Catches a Toxic Treatment

[music] The patient story that
I want to talk about is a woman in her 60’s and she was out on a Valentine’s day date with her husband. And during the date she started experiencing palpitations and dizziness and sweatiness and they were severe enough that she had to be rushed to the emergency room. Interestingly about a year prior to that she had had similar symptoms but they were milder but she also went to the emergency room but they were unable to find out anything wrong with her. And they sent her home. And then two days later
again experiences those symptoms and went back to the emergency room and the same thing,
they just sent her home. Because it was the third recurrence and the symptoms were much more severe they actually hospitalized her for four days, ran a bunch of tests and still were unable to come up with any answers for her. And they suggested she go back to her local care provider at the Mayo Clinic and see if they could figure out what was going on. She went to see her local care provider and they performed nine days of testing on her and could not find anything to explain her symptoms. Then one of her physicians started thinking about well maybe it’s her medications that she’s having issues with. So they actually ordered a pharmacogenomic test and we ran it in our lab. What it involves is testing the genetic makeup of an individual to determine if they might have a poor response to a medication or even side effects from a medication. It actually turned out that she was a genetically based poor metabolizer for one enzyme known as CYP2D6. And CYP2D6 is really an important enzyme. It metabolizes or breaks down a lot of different drugs in our body. And it turned out that this
CYP2D6 deficiency in this patient was actually causing her to have
toxic levels of a heart medication. And it was building up to life
threatening toxic levels in her. So in a way, the information provided from this pharmacogenomic test actually saved her life. So it’s great. Hi I’m Dr. Linnea Baudhuin. I’m a clinical molecular geneticist at the Mayo Clinic in Rochester, Minnesota. I co-direct the personalized genomics laboratory and the clinical genome sequencing
laboratory at Mayo. [music]

One thought on “A Genetic Test Catches a Toxic Treatment

  1. Is there any Pharmagenomic reason for a patient being able to tolerate a high amount of medication such as Clonazepam with what may be described as a paradoxical effect? Patient taking up to 10 times the average dose without drowsiness and in fact has a more alert state at these abnormally high levels of the drug.

    Patient also has similar high tolerance to dexamphetamine. However is highly sensitive to anti histamines particularly those that have a strong affinity with the histamine pathways in the brain such as Doxepin, Quetapine and Mirtazipine.

    Thankyou for your video and best wishes with your endeavours.

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