Biohacking ~Genomic Analysis

GenomeRecently, I reblogged a post on the MTHFR gene mutation.

Then wrote about some of the fun that can be had with genomic analysis.

Today I’ll put the two together & 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 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:

MethotrexateI 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.

The methylation cycle. Image from http://neuroendoimmune.wordpress.com/

The methylation cycle. Image from: http://neuroendoimmune.wordpress.com/

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:

  1. Severely limit the ingestion of folic acid in fortified foods, drugs & supplements;
  2. 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
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?

Biohacking Health

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.

I highly recommend finding a good Functional Medicine doctor for your biohacking team.

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.

 

18 thoughts on “Biohacking ~Genomic Analysis

  1. “patients relying on such tests may begin to self-manage their treatment… or even abandon certain therapies depending on the outcome of the assessment.”… Sometimes, like today, I am REALLY glad I don’t live in the US. That is positively scary!

    Most awesome post, Petra. And, I do hope that Matthew finds some respite from his nausea soon. X

  2. Reblogged this on livewello and commented:
    By sharing their personal battle for recovery, Petra gets straight to the point about the need to empower oneself with knowledge about their Genetics, the gift of Epigenetics and the promise of Personalized Medicine. As his caregiver, her love for her husband reassures readers of the relentless human spirit which is evident in our community. It is that same drive that motivated the founders of Livewello to build it for their son. Petra’s blog also emphasizes the need to use the Livewello’s Web App with your 23andMe and Ancestry Raw Data despite any health information your Personal Genomics test already offers to you. Here’s why:
    http://on.fb.me/1zs1u9p

    With your 23andMe, Ancestry and any other Raw Data file, you can also:

    1) Get your results on Genes that Research Studies have associated with your own health issues and Diagnosis: https://livewello.com/gwas

    2) Browse the Gene Library and install templates to see your own results: https://livewello.com/snps/library

    3) Compare gene reports with your trusted family or friends to partner with others like you and create a community around your journey to recovery: http://livewello.com/snps/compare

    4) Empower yourself: Use the 8 resources to information linked directly to each Gene in your Livewello Gene App Report to learn more. Each link composes their information to suit different learning styles.

    5) Use the Sandbox tool to create Gene reports based on a Gene Name or any combination of SNPs: https://livewello.com/snps/sandbox
    SNP Sandbox Tool Video for 23andMe users: http://vimeo.com/103512972

    SNP Sandbox Tool Video for other Personal Genomics Company users: https://drive.google.com/file/d/0B3wi07iiWY7dd1lWdk1XQlN4SVU/edit?usp=sharing

    6) Share all your Reports with your Healthcare Practitioner:
    Tips on sharing your Gene Report with your Doctor: http://resqua.com/100005927200207/how-do-i-share-my-gene-report-with-my-doc

    7) Keep Track of your Functional Lab results to monitor your progress or regress: https://livewello.com/data-apps

    8) Ever wondered what a sample Livewello report looks like? Go to: https://livewello.com/snps/share?for=martin.dawson.606
    Remember: This is just a Sample Standard Livewello Gene Report so it contains only 300 out of the 600,000 SNPs that your Livewello Gene App provides. This web application will also allow you to generate reports on up to 50,000 SNPs that research studies have directly associated with certain diseases and health conditions.
    Read More here: http://on.fb.me/1zs1u9p

  3. Petra, did you know that Research Studies have already associated certain Gene with the Psoriatic Arthritis? Here they are: https://livewello.com/snps/library?action=preview&index=224904&for=demo

    By the way, this was created using the Health Conditions tool in your Livewello App which pulls Genes that Genome-Wide Associated Studies have correlated to certain health conditions ( https://livewello.com/gwas )
    Bear in mind that epigenetics can also cast its own line in issues like this.

  4. Some more resources from a fellow biohacker (I haven’t checked any of these, other than LiveWello, out myself):

    “here are 3rd party sites that you can upload your raw data to and get info related to the methylation pathway:
    geneticgenie.org Free
    healthcoach7.com $10
    http://snpedia.com/index.php/Promethease $2
    knowyourgenetics.com Free
    livewello.com $20
    mthfrsupport.com $20
    nutrahacker.com Free option

    If you do promethease, use the link under snpedia, it is cheaper. that report is a good overall health type report, lots of interesting stuff. This one is not specific to methylation.

    I also like this site for learning about the different snps:
    http://www.heartfixer.com/AMRI-Nutrigenomics.htm

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  7. Just found your blog while googling ‘mthfr 23andme canada’. I was just on the 23andme.com Canadian website and it stated that, “23andMe does not provide health reports related to the following conditions:” … and they listed “Methylation analysis of the MTHFR gene”. So I’m confused! I don’t want to get a 23andme test without the MTHFR info.

    • Hi Patricia. If you sent your 23and me results to a company like LiveWello.com, I wonder if they would still be able to give you the MTHFR report. I’ve found the people at LiveWello to be really helpful, so it might be wise to ask them if they can still get that data from the 23andme & provide you with a report on the MTHFR gene.

    • They only fail to give the health reports. You should still be able to get your raw file *with* the MTHFR info and then pass it on to Livewello or whoever. I know I am commenting on this several months later but I wanted to say it in case someone else came along wondering about it.

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