MTHFR / MAOA / SNP TESTING

Over the last several years of my practice I have been doing more and more genetic testing with my patients. It is amazing what we can learn from our DNA! And, more importantly, how the knowledge we acquire can inform treatment and improve health outcomes.

Why test?

Many naturopathic physicians have been using genetic testing for as long as it has been available mostly to screen for 1-2 single nucleotide polymorphisms (SNP’s).  It used to cost patients around $150 per gene/SNP, which starts to become cost prohibitive when looking at more than one or two.   Then, 23andme came around and started offering comprehensive genetic test kits for $99 – a significant bargain. Now Ancestry.com also has genetic kits, and at times discounts their tests to $69, or two-for-$99.  These are incredible dealsl!!

The downside?  Well, 23andme is storing our genetic information and creating huge databases of information.  It is unclear if Ancestry.com is doing this as well. The upside?  You can opt-out of all research, storing of genetic information, and you can even create a fake name and fake date of birth to go along with your test kit.

Who might benefit from testing:

I highly recommend testing for the following individuals:

  1. Anyone with unexplained medical problems who have either failed conventional treatment or whose physicians have not been able to make a diagnosis that fits all of their symptoms.  (Especially patients who are still having symptoms but whose physicians are saying “there is nothing wrong with you.”)

  2. Children with Autism, Asperger’s syndrome, or other ASD.

  3. Children with ADHD or behavioral problems where other causes have been ruled out (iron deficiency, food intolerances, etc).

  4. Any adult with anxiety, depression, bipolar disorder – especially those who have a strong family history of mental health issues.

  5. Couples who have had unexplained fertility or miscarriages.  I also recommend testing for men and women who are wanting to conceive in the future, as it can prevent a lot of problems in pregnancy and beyond if there are risk factors for certain diseases. (I recommend testing 3-6 months before trying to conceive).

  6. Anyone who's healing progress has “plateaued” with naturopathic therapies but is still having symptoms.

  7. Anyone who wants to know more about their genetics! This is a non-invasive spit test, there is no risk except learning more about your general health.

Please be clear that we are not doing “genetic counseling” here. Researching SNP’s only tells us the tendency of the individual to have certain health traits.  For example: patients with a DAO SNP may have a tendency toward histamine intolerance.  Patients with a COMT SNP may have a tendency toward anxiety and estrogen dominance.

Now this is very, very important: everyone has unique genes.  Everyone has a tendency to have some type of genetic health challenge.  However, it does NOT mean we are doomed!  Though our genes may be “written in stone” the way they are expressed is highly variable and influenced by our environment.  In other words – how we live our lives affects the expression of the genes we were born with!

Here’s how to order:

  1. Order your test kit.   I recommend Ancestry.com, as 23andme has dropped many of their markers.  (I have no affiliation with either company.) The kit will take a few weeks to ship to you. Young children who cannot spit may not be able to perform the test.  The assisted collection kit (which contained a sponge) is no longer available, and children must be able to spit into a tube in order to collect the sample.  (Drool is not acceptable.)

  2. When the kit arrives follow the instructions for registering the kit online (this is very important – it matches the sample to you). Stop eating, drinking, etc, for 30 minutes before collecting the sample. (Nothing in the mouth, that includes smoking, chewing gum, brushing teeth, etc.)  Spit into the vial until it reaches the “fill” line.  This took me around 15 minutes – it's more saliva than you would think.   If you have problems getting enough saliva try some of these tricks.   Follow the rest of the instructions carefully (you will need to click the top on which adds the buffering solution, then take that off and screw on a normal top).  Mail the kit back and then wait.

  3. Several weeks later you will get an e-mail that “preliminary results” are ready.  Go ahead and check out the ancestry reports, but don’t do anything with the raw data until you get final results.  (You will get another e-mail notification when results have been finalized.)

  4. When final results are ready log back into your account. For Ancestry.com: Go to “Settings.”   On the right hand side click the button that says “Download Raw DNA Data.”  Click through the security warning and save in a safe place.

  5. Go to www.MTHFRsupport.com (once again, no affiliation).  Under “My Account” register a new account and provide your e-mail address and make a new password.  (This is new – they now require you to register an account with them.) Then, under the main menu click on Sterling’s App > Order Reports.  Click the big blue button that says “Upload Genome File.”  Select your zip file and wait for it to upload.

  6. Under “Name” click on your report to select it. (It doesn’t automatically select it.)  Then select “Generate Report from Selected File.” (This button should turn blue when you click on your file name.)

  7. Select “Variant report” ($30 option). Continue the check-out process (just like doing any online payment), and pay with Paypal or your credit card.

  8. Follow on screen instructions – after Paypal payment has been received click the “return to MTHFRsupport.com” site.  Go to the menu under Sterling’s App > View Reports.  Under “actions” (on the right hand side) – click the eyeball icon (right next to the trash icon).  The eyeball means “View Report.”  Very important – select “Click here to download your report as PDF “ to save a copy to your hard drive.

  9. E-mail that file to Dr. Allison and schedule an appointment to talk about it.  These new reports are 44 pages long, so bear with me if it takes a little time to review them.  I no longer can go over every single gene, but we do go over the most important ones (like MTHFR, COMT, MAOA, etc).

 

Once you have the raw data file you can also utilize other sources of information like Genetic Genie or Nutrahacker too.