GeneSight Test: Part 3 (Results)

Welcome to part 3 of my GeneSight series! I have submitted my spit and received my results! Did you miss my intro and/or procedure posts? You’ll want to read those first. This is the longest and most complex of all of them. I hope that you will find it as interesting as I do.

I received my reports within 2 weeks from my healthcare provider and was eager to see what they said. The GeneSight Psychotropic test report is 9 pages long and my GeneSight MTHFR test report is one page. Are you ready to hear about how my genetic makeup affects the way drugs work in my body?

The reports are pretty easy to read. My provider showed me an example of a report that he receives, which is color coded. Green means “Use as directed.” These are the medications that your body doesn’t have any issues responding to. Yellow means “Use with caution.” These have a moderate gene-drug interaction, so they might not work well for you. Finally, red means “Use with increased caution and more frequent monitoring.” These have a significant gene-drug interaction. Pages 1-4 of my report feature the green/yellow/red gene-drug interaction results.

The psychotropic test analyzed my gene-drug interaction with 22 antidepressants, 12 anxiolytics and hypnotics, antipsychotics, and mood stabilizers. Most of the drugs fell in the green category (note: my report printout is in black and white, but it is still very easy to interpret). I have moderate gene-drug reactions with 2 antidepressants: doxepin (Sinequan) and fluoxetine (Prozac) and one antipsychotic: asenapine (Saphris). I have never tried any of those medications. I have significant gene-drug interaction with one antipsychotic: olanzapine (Zyprexa) and two mood stabilizers: carbamazepine (Tegretol) and lamotrigine (Lamictal). I have tried the mood stabilizers and experienced side-effects that led me to see my prescriber and change meds. Note that the mood stabilizers Neurontin, Eskalith, and Topamax do not have proven genetic markers, so I have no results for those.

If a drug has a gene interaction, the reason is notated. For example, both of the antidepressants that are in the yellow zone might require lower doses because of high serum levels.

The next two pages of the report are more complicated to read and understand. These pages list “patient genotypes and phenotypes,” with pharmacodynamic genes on page 5 and pharmacokinetic genes on page 6. Some definitions:

  • Genotype: genetic makeup
  • Phenotype: observable characteristics (based on genotype/environment interaction)
  • pharmacodynamic: drug effects and how they work
    pharmacokinetic: movement of drugs within the body

These reports seem to be mostly full of “normals” for me, which is good (I think). There are a couple that are not normal, which leads us to the next section: a 2-page table with all of the drugs listed on the left side, all of the genotypes listed across the top, and a key at the bottom that has the following two options:

  1. A solid black circle = “Variation was found in patient genotype that may impact medication response.”
  2. An empty circle = “This gene is associated with medication response, but patient genotype is normal.”

I have 18 drugs that have solid black circles under one or more genotypes: (Wellbutrin, Remeron, Zoloft, Effexor, Trintellix, Valium, Lunesta, Restoril, Ambien, Clozaril, Prolixin, Haldol, Depakote, Sinequan, Prozac, Saphris, Zyprexa, and Lamictal). I have been on 10 of these drugs and I currently take high doses of Depakote. It would have been cool to have these results 16 years ago, when I first sought treatment for my issues!

Page 9 is the last page of my psychotropic report. It lists all of the details about the test (specimen collection details, a list of scientific procedures performed on the sample, etc.), a statement that the test hasn’t been approved by the FDA, a disclaimer of liability, customer service information, and a signature from the doctor that verified the report.

The last page of my document is a 1-page report on my folic acid conversion test. The MTHFR results are reported in a very simple and straightforward manner. A check mark is located in one of three categories: “Normal folic acid conversion,” “Reduced folic acid conversion,” or “Significantly reduced folic acid conversion.” I have reduced folic acid conversion. Just like the psychotropic test report, this report also has a short genotype/phenotype section. Based on my genotype, it is expected that I have reduced folic acid metabolism, moderately decreased serum folate levels, and moderately increased homocysteine levels. The report states that my serum levels may be too low and folate supplementation or higher daily intake of folic acid may be required. I will discuss this with my prescriber in April. Again, test information, disclaimers, and so forth are listed and the document is signed by someone who verified it.

This is getting to be a ridiculously long post, so I think I will stop here and say “to be continued” until after my follow-up appointment.

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GeneSight Test: Part 2 (Procedure)

Welcome to part 2 in my GeneSight series! If you missed part 1, click here to read it really quick before proceeding. Part 1 gives an overview of what the test is, why it is used, why I had it done, and a list of other tests available from this specific company.

After my Nurse Practitioner and I decided that I would get tested, a Medical Assistant walked me you through the DNA sample collection process. The process that I experienced:

  1. I signed a form authorizing Assurex Health, Inc. to bill my medical insurance for the tests. I was told that the GeneSight Financial Assistance Program is available to help make GeneSight affordable for those who qualify. My provider told me that the test is expensive (several thousand dollars), but Assurex is very good at getting insurance companies to pay, and individuals usually end up paying no more than $300 out-of-pocket. I was told that I will receive a bill if my insurance doesn’t cover everything, at which time I can appeal and/or apply for assistance.
  2. The Medical Assistant gathered the testing supplies and I completed two short identical forms (one for each test) that were submitted with my samples. I was told that my samples and results would be kept confidential and comply with HIPAA (Health Insurance Portability and Accountability Act) and GINA (Genetic Information Nondiscrimination Act) that ensure the security of personal and genetic information.
  3. I was given two large cotton swabs and asked to rub them inside my cheek until they were soaked with spit. This was quick and painless. She had me drop the swabs into a plastic pouch, which she sealed and packaged for shipment.
  4. That’s it! The office mailed my samples (pre-paid FedEx) to Assurex. I was told that my results would be available to my healthcare provider within 36 hours after the lab received my samples, and that I would receive a copy of the results from my healthcare provider. I received a copy of my report in the mail just under 2 weeks after submitting my spit/cells. I have an appointment with my Nurse Practitioner in April to discuss the report.

Check back soon for part 3: the results!

 

GeneSight Test: Part 1

Earlier this month, my Psychiatric Nurse Practitioner suggested that I submit DNA samples for GeneSight Psychotropic and GeneSight MTHFR combinatorial pharmacogenomic testing. What does that mean? Why would I want to do that? I’m glad that you asked! If you didn’t ask those questions in your head, feel free to move along.

According to their website,

“The GeneSight test analyzes a patient’s genes and gives healthcare providers information to help them select the medicine(s) that are more likely to work for an individual patient. GeneSight provides answers that can lead to a personalized treatment plan and faster response and remission for patients.”

They currently offer 4 tests:

  • GeneSight Psychotropic (for mood-altering prescription drugs used to treat depression, anxiety, bipolar disorder, schizophrenia, and other behavioral health conditions)
  • GeneSight Analgesic (for prescription painkillers)
  • GeneSight ADHD (for prescription attention-deficit/hyperactivity disorder drugs)
  • GeneSight MTHFR (tests how well your body can convert folic acid into its active form)

 

I decided to get tested because I have been struggling for over 16 years with finding medications that work well for me and don’t have intolerable side effects.

I have already typed out a really long blog post about my experience having the test done and my results and then I decided to break it up into manageable sections. Because who wants to stay up all night reading this? Probably not you. So, stay tuned for parts 2, 3, and maybe 4! And for now, get some sleep. Monday is going to come too early.