Genetic Testing Using “GeneSight”

Amy shares a genetic test her son with ADHD and ASD had done by his developmental pediatrician and how the results have helped shape her son’s treatment. (Originally written December 2018. Updated September 2019 with new information.)

If you have a child with ADHD or Autism, or if you yourself have ever needed medication for depression or anxiety, you probably have experienced the struggles of medication trials. 

 My son has ADHD and Autism.  For months we were on the roller coaster of medication trials to help manage some of his symptoms.   He went from Focalin to Dyanavel, to Guanfacine with nothing seeming to be the right fit.  The Guanfacine offered the least side effects, but also the least results.  On the Dyanavel he’d be wired in the morning, then crash in the afternoon. The Focalin suppressed his already poor appetite.  He was struggling in therapy, school and at home.  We were all frustrated.

I called his developmental pediatrician and asked if we could discuss trying yet another medication.  She said she first wanted me to bring him in for a test called the “GeneSight“.

What is the GeneSight test?

The GeneSight is a genetic test that examines the patient’s DNA, collected from a cheek swab, and analyzes how it interacts with certain medications along with testing for a particular gene mutation. It works in four different areas.

Psychotropic Medications

For one, it analyzes how patient’s genes respond to psychotropic medications, such as fluoxetine (Prozac) and lorazepam (Ativan). These medications are typically used to treat neuropsychiatric conditions such as depression, anxiety, bipolar disorder, panic disorder, posttraumatic stress disorder (PTSD), premenstrual dysphoric disorder, obsessive-compulsive disorder (OCD), and schizophrenia.

Analgesic Medications

It also tests how a patient’s genes respond to analgesic medications, such as morphine (Avinza) and hydrocodone (Vicodin). These medications are used in patients who suffer from acute and chronic pain conditions such as osteoarthritis. (Temporarily unavailable as of June 2019.)

Stimulant and Non-Stimulant Medications

It also tests how a patient’s genes respond to stimulant and non-stimulant medications, such as guanfacine (Intuniv) and amphetamine salts (Adderall).  These medications are used to treat conditions such as Attention Deficit Hyperactivity Disorder(Temporarily unavailable as of June 2019.)

Methylenetetrahydrofolate (MTHFR) Test

The final test is the MTHFR test.  This test analyzes the important MTHFR gene which converts folic acid into its active form L-methylfolate.  L-methylfolate is integral in the production of dopamine, serotonin and norepinephrine.  A mutation of the MTHFR gene can attribute to neurological symptoms seen in conditions such as depression and anxiety. Treatment is simply taking an L-methylfolate supplement.

What Does the Report Look Like

Medications

The report breaks down all the medications currently FDA approved to treat the above conditions and then categorizes them into three color-coded columns.

  • GreenMedications with no gene-drug interaction and to be used as directed.
  • Yellow:  Medications with some gene-drug interaction and may or may not work as directed.
  • Red: Medications that showed significant gene-drug interaction and may not work as directed.
  •  See Sample Report

MTHFR Mutation

The report also shows the MTHFR results using the same format:

  • Green: The patient has normal folic acid conversion.
  • Yellow: The patient has moderate folic acid conversion.
  • Red: The patient has significantly reduced folic acid conversion.
  • See Sample Report

What Did Our Report Show

Medications

The results for my son were very telling. The medication he was currently taking, Guanfacine, fell in the yellow category, meaning a moderate gene-drug interaction.  In his green category was Adderall, showing no gene-drug interaction.  Adderall is a stimulant and physicians are cautious when prescribing it, especially to young patients.  However, due to the results of his report, it was clear Adderall would more than likely offer him the best results.

MTHFR Gene Test

The physician also showed us the MTHFR report. My son showed red, a significant reduction in folic acid conversion, or a mutation of the MTHFR gene.  Scientific research has shown that mutation of the MTHFR gene can cause symptoms seen in conditions such as ADHD, ASD, depression, anxiety and more. (For more information about the MTHFR gene click here.)

The Results

Since his GeneSight test more than a year ago, my son has had fantastic results with his current medications.  He takes Adzenys, a methamphetamine similar to Adderall to help manage symptoms of his ADHD, and flouxetine (Prozac) to help manage symptoms of his anxiety.  Both with great success. In addition, he takes EnBrace HR, which contains L-methylfolate (activated folic acid) also with great results.

In Closing

The GeneSight test is truly cutting edge science that can help take the guesswork out of physicians prescribing medication for certain conditions as well as providing valuable information about the MTFHR gene.  If you have a child who takes medication for ADHD, who is diagnosed with ASD, or you know someone who suffers from conditions such as depression, anxiety or chronic pain, share this information. It may be a conversation they want to have with their healthcare provider.

*Update: September 2019 – At this time, GeneSight reports they have discontinued tests for ADHD and analgesic medications while they conduct more extensive clinical trials.  They are continuing to test for psychotropic medications as well as the MTHFR gene mutation.

By coming forward and sharing your story, you don’t know the countless lives you may change. – Mariska Hargitay

 

 

 

 

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Author: bigabilities

Amy Nielsen lives in Orlando, Florida. She is the proud mother of four children ranging in age from 3-30! She and her husband, Brent enjoy sports and traveling. Amy is a former teacher with 20 years experience, a freelance writer, and special needs advocate. Her mission is to help educate and empower families of children with disabilities to focus on their child's interests and strengths.

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