Recently, I wrote about some of the fun that can be had with genomic analysis.

Today I'll delve into our experiences using genomic analysis as a diagnostic tool.

Genomic Analysis

Genomic analysis is simple (at least on our end): order a kit online from 23andMe (That’s a Canadian link; Google 23andMe for other countries.)

They send you the kit, you follow their instructions, including sending them a sample of your saliva.

If you live in Canada, your 23andMe report will come with health data. People from the United States have to send their result to a secondary company like Genetic Genie to get a health report (people from other countries may find this additional analysis useful as well).

If you live in the States, you have to take this additional step because the American Food & Drug Administration (FDA) has banned access to health information through 23andMe. According to the FDA, "patients relying on such tests may begin to self-manage their treatment... or even abandon certain therapies depending on the outcome of the assessment."

Yes, indeed, they might.

Let me give you an example.

Matthew is the guy I love and he has an autoimmune condition called Psoriatic Arthritis for which he was prescribed Methotrexate for more than a decade.

Before we get into genomic analysis, let's just take a moment to check out a list of known Methotrexate side effects:


I find the side-effect called 'Toxic Megacolon' to be particularly evocative.

Before we started the Autoimmune Protocol (AIP) in 2013, Matthew had been taking Methotrexate since 2002, during which time his health deteriorated until he was hardly able to function at all. Because Methotrexate is an 'antifolate', he was also prescribed a daily high dose of folic acid during this time.

Both the Methotrexate a d the folic acid always made him feel awful.

Enter the MTHFR Gene Mutation

Turns out Matthew has the MTHFR gene mutation.

A quick overview: the MTHFR gene is tasked with carrying instructions for making methylenetetrahydrofolate reductase, an enzyme which assists in processing amino acids, which are the building blocks of proteins.

Methylenetetrahydrofolate reductase is critical for a chemical reaction that I freely admit I do not understand, other than that it involves folic acid (also known as vitamin B-9).

You can find more information about melylation biochemistry here.

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Take the Assessment

Turns out Matthew is heterozygous for the MTHFR C677T gene mutation (He is also homozygous for the MTHFS gene mutation, but that's another story).

'Heterozygous' means the mutation was inherited from one parent; 'homozygous' means it was inherited from both parents, and is usually more problematic. Though it is important to note that it is the interactions between gene mutations and the environment that ultimately impact our health, not the mutations themselves.

Having a MTHFR mutation means Matthew (and others like him) cannot readily process folic acid. And that they should not be taking antifolate drugs.

In fact, the primary recommendations for people with MTHFR mutuations are:

  1. Severely limit the ingestion of folic acid in fortified foods, drugs & supplements;
  2. Avoid all folic acid blocking drugs, like birth control and Methotrexate.

In other words, avoid precisely the two things that specialists have been prescribing to him for over a decade.

I know that none of those doctors wished him any specific harm. The information available to us through genomic analysis is relatively new,  and we simply didn't know this stuff way back in 2002.

But we do now.

So now that we do, let's review the FDA's concerns about access to genomic health data:

"Patients relying on such tests may begin to self-manage their treatment... or even abandon certain therapies depending on the outcome of the assessment."

Yes, they just might.

Matthew's Mystery Symptom

One of Matthew's mysterious symptoms that is not lifting, even after 10 months on the Autoimmune Protocol, is severe and disabling nausea.

He is still on long-term disability leave from work, which is causing significant financial stress for our family. His autoimmune symptoms are improving, but the debilitating nausea is not.

Interestingly, we have learned that other people with Psoriatic Arthritis who have been on Methotrexate in the long-term are also suffering from severe, unexplained and protracted nausea.

I wonder if these people also have similar gene mutations and if prolonged toxic exposure to Methotrexate and folic acid supplements might be the cause?

Personalized Experimentation for Health

This blog is devoted to biohacking autoimmune. And biohacking peak experience.

Biohacking is all about taking personal responsibility for well-being through self-experimentation. Running personalized (n=1) experiments to improve health.

To engage in n=1 experimentation, you need data. Genomic analysis provides potentially powerful data.

Once you have data, you decide what to do with it.

MTHFR is only one possible gene that creates a predisposition to health issues when mutated. Others may deserve investigation as well, depending on the state of your health and your genome. New information is emerging all the time.

But you don't have to do it alone.

Most medical professionals are lagging when it comes to this stuff, as evidenced by the mini experiment Matthew & I ran here in British Columbia last summer, but Functional Medicine uses genomic analysis as a primary diagnostic tool.

I highly recommend finding a good Functional Medicine doctor for your n=1 experimentation team.

Find another example of the use of genomic analysis to diagnose & treat perplexing autoimmune symptoms on the Paleo PI.

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