Dr. Erika’s note It looks like now 23andme is dropping some of the most important SNP’s from their report! We now highly recommend patients to order their testing through Ancestry.com, which can provide the raw data
In the last few years of my practice I have been doing more and more genetic testing with my patients. It is amazing what our DNA can tell us!
Many of us 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 our patients somewhere around $150 per gene/SNP, which starts to become incredibly expensive when looking at more than or two. Then 23andme came around and starting offering complete genetic test kits for $99 – a huge bargain. Now Ancestry.com also has genetic kits, and sometimes discounts theirs to $69, or two-for-$99. These are a great deal!!
The catch? 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 if you are a conspiracy theorist you can even create a fake name and fake birthdate to go along with your test kit. (Yes, I did this too.)
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 problems.
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 has “plateaued” with naturopathic therapies but is still having symptoms.
7) Anyone who wants to! 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.
Very, very important: everyone has unique genes. Everyone has a tendency to have some health challenge. However, it does NOT mean we are doomed to it! Though our genes may be “written in stone” the way they are expressed is highly variable depending upon our environment. In other words – how we live our life trumps the genes we were born with!
1. Order your test kit. I now recommend Ancestry.com, as 23andme dropped some 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 use 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 about 15 minutes – it is quite a bit 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. Wait.
4. 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.)
5. When final results are ready log back into your account. If you are using 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.
If using 23andme.com (which I no longer recommend). Under “Tools” select “Browse Raw Data.” It will give you a warning that this data is suitable for research use only. (That’s okay, we want to use it anyways, and we understand that 23andme data isn’t always 100% accurate. We are not using it to diagnose serious medical conditions, just to give us insight into your overall health.) Click “I understand.” When the page “Your Raw Data” loads click on the hyperlink in the first paragraph that says “download.” Scroll to the bottom of the next page, input your password again and select Download. Download the raw data file (it will be in .zip form). Save this to a place you will remember, and do NOT unlock the zip file.
6. Go to www.MTHFRsupport.com (once again, no affiliation). Under “My Account” register a new account and give 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 (did you remember where you saved it?)
Wait for it to upload.
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.
7. 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.
8. E-mail that file to Dr. Erika 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.