Lots of you have asked me,”What the heck is an SNP and how do you use them to optimize patients?”
DNA is composed of base pairs of the 4 nucleotides: cytosine, guanine, adenine, and thymine. These pairs repeat themselves over and over, and make up our genetic content. Humans have somewhere around 20-25,000 genes located on 23 pairs of chromosomes.
SNP stands for Single Nucleotide Polymorphism. They aren’t genes, per se, but they do dictate how genes are expressed and what proteins are ultimately made by our DNA. They are genetic variants and what makes us all different. SNPs occur normally throughout your DNA, and they occur almost once in every nucleotide on average. This means that there are 4-5 million SNPs in your DNA. When they occur within a gene or a promoter regions they may play a role in disease or make you more prone to a certain condition.
Here is an example from my own genetics. I have 2 SNPs for the MTHFR gene. This means I got one from my father and one from my mother. What this translates into is a decrease in the MTHFR enzyme activity, the enzyme that performs the final step in activation of folate. Without active folate, or high enough levels, many biochemical functions won’t operate efficiently. This includes DNA maintenance and repair, activation of other proteins and enzymes, formation of neurotransmitters, and many others. The solution to finding this SNP is to “work around it.” In this case it means I take the active form of folate (since I have a genetic variant, or SNP, associated with decreased enzymes activity) in order to bypass this genetic disadvantage.
This is essentially the basis of DNA-based precision medicine…determine if you have any genetic disadvantages (or SNPs) and work around them in order to optimize health. There are literally thousands of examples of how to optimize a SNP that puts you at risk for a condition. We will highlight many more of these on future blog posts.
Encompass 360 looks at approximately 700,000 SNPs and then auto feeds them into an algorithm that defines the SNP, what it puts you at risk for, and makes recommendations on how to optimize genetic disadvantages.