Genetics - What Do You Mean ? (Genes, Locations, and SNP's oh my!)
Usually when i tell people i do genetic testing and interpretation, i get responses like, "oh yeah, i already got my report from 23andMe, Heritage, or Nutrition Genome....it says i should eat this and not that". When i first started helping my family, i did some research, and the most comprehensive genetic test panel i found was from GX Sciences, it was across 2 dozen genes, and 55 SNP's. When i tell them my starting point is 1,000+ genes, across 80,000 locations (that is 320,000 SNP's), and then i do special add on analysis as needed - well their eyes usually glaze over:)
Some basics around genetics - the human species has about 20,000 genes, with about 1,000 - 1,500 receiving that vast majority of research and priority. Each gene is kind of like a tall ladder - with many steps or rungs - think of these as 'locations' on the gene. In our world, these locations are denoted by an "rs#", like rs 234329. Each rs# is associated with a particular location on a particular gene. A SNP (Single Nucleotide Polymorphism) - is a status of a location on a gene, so if I look at 50,000 locations on your genes - there are 200,000 potential statuses (SNP's). Some genes are more critical for certain functions than others, and some locations are more critical as well. Another analogy i like to share - is mutations are like popcorn kernels, potential, not fate. We don't know if your mutations have expressed by looking at genetic data - we cant tell if they have popped. However, most in the space theorize, that over time, and with life, and experiences that are stressful, traumatic, these mutations begin to express themselves.
If you have taken the time to look at your raw genetic data from 23andMe or other services, you will see these listed (500,000 lines of rs#'s and then some letters). Each location for each gene has a status, one of 4 are possible: homozygous (2 mutated copies), heterozygous (1 mutated copy, 1 un mutated copy), wild (2 non mutated copies), or its deleted. We get one copy from mom, one from dad. The deletion status is the most rare and most significant, then homozygous, then heterozygous, then wild. Each gene also uses other nutrients to function, often called co-factors (magnesium, b2, zinc, b1, etc). Separately, most genes can be up-regulated (stimulated) or down-regulated (inhibited) by different compounds and nutrients - this is how we assist our body - knowing what to eat and what supplements will have what effect on our genes.
When i begin to analyze this data, i use different software tools to help organize genes into groups that are related to each other, and to pay special attention to certain locations on certain genes that have published research on their impact on the functioning of that gene. I like to say, its like looking at a mountainous pyramid of sand, and I begin by organizing it into 30 large blocks like an Egyptian pyramid. The blocks on the bottom are foundational, and blocks within each layer are related, and each gene within each block is related in some way - as one example one of the blocks has genes just related to Mitochondrial Function. I examine each block and begin to identify the most challenged (mutated) blocks, and then look for patterns across blocks over time. I work my way up from the bottom layer (which focuses on inflammation and oxidative stress), one layer at a time. I usually spend several hours looking through this information, and then look for patterns across blocks and layers. Almost always, clear patterns emerge where systemic weaknesses in certain systems and biochemical pathways become clear. It is usually these weaknesses that are met by an environmental insult: physical trauma, emotional trauma, infection, toxicity.....and the systems stability becomes compromised and is unable to recover and or stabilize without the appropriate outside support. For each of these blocks of genes, i use a corresponding bio-chemical pathway map that visually shows how the genes work together, what co factors they require, and what compounds up and down regulate them.
One of the most foundational tests I suggest to clients to get done, is a micro nutrient panel. My current favorite is by Vibrant America, and covers 43+ Vitamins (A, B1, B2, B3, B5, B6, B7, B9, B12, C, D, D3, E, K1, K2, Inositol); Minerals (Magnesium, Potassium, Calcium, Zinc, Manganese, Selenium, Copper, Iron, Chromium, Choline, Potassium, Sodium ), Anti Oxidants (CoQ10, Glutathione, ); Amino Acids ( Leucine, Iso-leucine, Valine; Glutamine, Serine, Asparagine, Carnitine, Citrulline, Cystine, and Arginine) and Fatty Acids (Omega 6's: Linoleic Acid, Arachadonic Acid; Omega 3's: EPA, DHA, DPA) as well as MMA, white cell counts, and some functional ratios. This test looks at the levels in our blood serum (which is an indicator of absorption from the GI tract for the last 5 days or so - does our GI tract absorb nutrition from our food and supplements?). Perhaps more importantly, it also shows intra-cellular levels of these same elements, once in the blood, do our transporter genes for each element succeed in getting them across cell membranes into the cell for use in cellular processes ? The latter is a marker for longer term nutritional/functional status - 3 to 4 months. It also helps inform which genes may be compromised because they don't have the fuel (co-factors) to function well, or which genes are being way up/down re-regulated and burning through co-factors resulting in nutritional deficiencies.