Today I’ll put the two together & delve into our experiences using genomic analysis as a diagnostic tool.
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 LiveWello to get a health report.
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 & 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 & 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.
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 & the environment that ultimately impact our health, not the mutations themselves.
Having a MTHFR mutation means Matthew (& 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:
Severely limit the ingestion of folic acid in fortified foods, drugs & supplements;
Avoid all folic acid blocking drugs, like birth control & Methotrexate.
In other words, avoid precisely the two things that specialists have been prescribing to him for over a decade.
Trepanning: we don’t do that anymore either
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 & 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 & protracted nausea.
I wonder if these people also have similar gene mutations & if prolonged toxic exposure to Methotrexate & folic acid supplements might be the cause?
This blog is devoted to biohacking autoimmune. And biohacking peak experience.
Biohacking is all about taking personal responsibility for health & well-being through self-experimentation.
To biohack, 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 & 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.
Find another example of the use of genomic analysis to diagnose & treat perplexing autoimmune symptoms on the Paleo PI.
FYI, the LiveWello Gene App is easier to navigate than the 23andMe health reports & also provides more detailed information, so you may wish to pay $20(US) for it, even if you do live in Canada & are able to access health data through 23andMe.
In this post I’ll describe how you can get your genome analyzed.
Then I’ll tell you about some of the fun we’ve had with genomic analysis.
Mutants R Us~
We’re all mutants to some degree. But some of us have gene mutations that create a predisposition to a variety of health issues.
In my next post, I’ll consider how to use genomic analysis to determine what your predispositions to health problems might be.
This post is just fun.
Getting the analysis done is easy: just 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 spitting into a plastic vial. Send off your saliva & wait for your analysis.
Fun Stuff First~!
Fun stuff: Your 23andMe report will tell you how much of a Neanderthal you are.
Modern humans range from 1-4% Neanderthal, with people of African ancestry having the least Neanderthal genes.
Being part Neanderthal is one of the funnest things I can think of.
As mentioned above, Matthew & I found out we are 2.8% & 2.4% Neanderthal, respectively.
You can find more information about research into the Neanderthal genome, including hypotheses about interbreeding between Neanderthals & anatomically-modern humans, here.
But your report will also scope out your ethic ancestry. Both Matthew & I discovered we were more ethnically diverse than we thought.
Matthew’s genomic analysis turned up significant slices of ‘Native American’ genetic material.
After researching his family tree, it turns out that his great grandmother was Mi’kmaq.
Which makes a lot of sense to him. On a cellular level.
He had told me years ago that when he went to Nova Scotia when he was 12 he developed a strong & abiding affinity with all things Mi’kmaq, including Mi’kmaq language. I had previously attributed this to the understandable curiosity of a suburban white kid about Indigenous culture, but it turns out this recognition didn’t originate in his mind.
It originated in his genome.
Though my genome is less colourful than Matthew’s, being primarily the monochromatic blue that designates the British Isles (after all, my ancestors come from candy-land), with a few dark blue snips here & there from marauding Vikings, my maternal haplogroup (mtDna) is L2a1.
L2a1 originates in Sub-Saharan Africa & is the most common haplogroup for African Americans.
Through it, I can trace my matrilineal line back to an ancient time when my greatest grandmothers were African.
It’s not enough genetic material to show up as even a sliver of African heritage in my genetic profile, so it has to have been a long time ago.
Very remote, very dilute.
The only reason these ancient grandmas even show up is that between myself & them is an unbroken line of women who all survived long enough to give birth to a daughter. That’s a pretty awe-inspiring thought.
I joined a L2a1 forum online & inquired about my incongruous (white) membership in this haplogroup. Pretty quickly, someone responded:
“There are numerous ways that L2a1 mtDna lineage could wind up in the British Isles. Roman era movement is certainly possible. See this article: Roman remains in York are of “elite” African woman. It’s possible that she was the wife of a traveler or trader. It’s also possible that she was a manumitted slave or descendent of them. It would not have been unusual given the Roman attitude toward ethnicity/race and slavery for a slave to be freed, become a “client” of a former owner, and then rise to wealth and status, no matter the place of origin. Of course, a Roman empire source is only one possibility. She could have reached the British Isles through that vector, or as a migrant from Iberia.”
In summary, genomic analysis is fun!
In part 2 of this post, Matthew & I will dig into the health data that genomic analysis also makes available.