Friday, 13 May 2016

'23andme' test

There are 7 billion people on this planet, each with approximately 37.2 trillion cells, a unique genetic code and a myriad of detoxification pathways. I think that we can safely assume that when it comes to healing, what works for one person may not work for another. 

Personalised treatment demands individual testing. My latest exciting insights come from the 23andme genetic profile test. This test shows genetic SNPs - essentially 'mutations' (or more accurately 'polymorphisms') in the gene code. I'm just starting to learn about this, and it's pretty involved. 23andme analyses hundreds of thousands of SNPs scattered across 23 pairs of chromosomes which make up the human genetic sequence. This is just a fraction of the estimated 10 million possible SNPs in the human genome! Gulp. Now think about this - each of our estimated 20-25,000 known genes has a regulatory job. A SNP in a certain place of a certain gene indicates reduced function, and 
can give valuable insight into disease pathways.

The most well understood and important SNP is in the MTHFR gene. This gene instructs the body to make the MTHFR enzyme. This important enzyme is responsible for converting vitamin B9, or folate, into it's active form, Methylfolate, which is a key player in the METHYLATION CYCLE. This critical chemical process takes place billions of times per second in our cells and is fundamental to the proper function of almost all of the body's systems. Here's the science part (I wish I'd paid more attention during chemistry lessons!) Methylation is the process of donating a methyl group (one atom of carbon bound to three of hydrogen: CH3) to a substrate (an end product, ie DNA, RNA, chemicals, neurotransmitters, hormones, immune cells, nerves) to make the necessary biochemical conversions needed for:

     Gene regulation
     Detoxification (Processing chemicals and toxins)
     Building neurotransmitters
     Processing hormones
     Immune System Function (Creating T and Natural Killer Cells)
     Cellular repair (DNA and RNA synthesis)
     Energy production
     Myelination (the production of protective nerve coating)

So you see, if this important cycle is working under par due to a gene mutation, over time it can lead to degenerative disease; breast cancer, MS and Alzheimers to name a few. Around 40% of us have a SNP in the MTHFR gene. A heterozygous SNP (where one allele is affected but the other is fine) can decrease efficacy by up to 40%, and a homozygous (where both alleles are affected) by up to 90%.

And MTHFR is just one gene of around 20,000! I have homozygous SNPs in COMT and MAO-A, two important detoxification genes, both of which are responsible for inactivating the more dangerous forms of oestrogen, and breaking down catecholamines (dopamine and adrenaline). My methylation pathways are compromised with homozygous SNPs in MTR and MTRR genes, and I have heterozygous mutations in 20 other genes. 

My SNPs explain my inability to process B vitamins, my tendency to worry (are you reading this, husband?), my adrenal burn out, heavy metal toxicity and inability to metabolise oestrogen safely - a sure route to breast cancer. 

But there's no bad news here! The beauty of this incredible knowledge is, that according to epigenetics we can switch our genes on or off by adjusting our internal environment. With this information we can gently support the body in the areas of lack, for example by taking oestrogen detoxifiers like calcium d-glucarate and DIM, or bioavailable forms of methyl/hydroxy B12 and methylfolate. 

Information is power, and this test provides another very important piece of the puzzle. I would absolutely recommend everyone who is trying to heal from chronic disease to take it. It costs £125 and is available to order (in the UK) on-line, you simply spit into a tube and post. Results take 6 - 8 weeks to come back, and need to be run through an interpretation programme. I found Nutra-hacker to be the most simple to understand, with elegant diagrams explaining the implication of certain SNPs and how to address them supplementally.  


  1. Hi Nicola, Once you've got all these results, who do you turn to learn about how to switch the right genes on or off? How do you set up a right protocol for you with this new information?

    thank you very much for sharing!

    I wish you a beatiful healing journey.

  2. Thanks for your comment Ann. There are some amazing docs who specialise in just this. I understand that Jess Armine is fabulous, although I haven't seen him myself. I ran my results through Nutrahacker, which was very comprehensive in it's recommendations as to which supplements are useful, and which are less so. But more interesting to me is how these results have encouraged me to learn more about methylation, and the weaknesses in my own pathways. As always, tests are just a springboard, giving us information which we can further investigate. Love and healing to you too. xxxx