We’re starting to see more DNA testing kits hit the market. Each one tests a unique set of genes and is able to present ways in which your personal health can be affected by the variants of those genes. All too often I hear patients say “I want to know if I have the gene for…” – fill in the blank. But what many people don’t understand is what genetic testing actually tests for, what it will show you, and how to use that information.
What is a gene?
The Human Genome Project was a 13-year endeavour in an effort to sequence all three-billion base pairs making up approximately 20,000 different genes. For the most part, almost all humans have the same genes in their DNA. Where we are unique is in the variant or version of the gene.
Genes, and DNA in general, are like instruction manuals or a blueprint. It’s a code used to build something in the body, like an enzyme or protein. If the instruction manual is missing a step or has been changed, the end product will be different. Gene mutations and polymorphisms can both cause changes in these instruction manuals.
Some changes may be so small that they don’t really cause a difference in the end product. Imagine you were making a meatloaf and you used sea salt instead of table salt for the seasoning. You’re probably not going to notice, and the meatloaf will generally turn out the same.
Other changes may have whole sections missing causing a major defect in the product. For example, you’re making a meatloaf and the ingredient list doesn’t contain meat. So, your meatloaf isn’t actually a meatloaf anymore.
What do my genetic test results mean?
Each gene that we test for has a two-letter version code. It’s this version code that we use to identify if the gene tested is a typical/normal variant of a gene, an atypical version of that gene, or a combination typical-atypical version. Each type of variation affects the functioning of that gene.
Let’s use the example of thyroid function. There are a number of genes that can affect the functioning of the thyroid – not just one gene. Let’s pretend we’ve identified one of those genes, we’ll call it THY1, and we want to test what version of the THY1 gene we have.
If you had the atypical version, you have a higher risk for slow or abnormal functioning of what that gene codes for. In this case, that would be an aspect of thyroid function, maybe an enzyme that helps produce thyroid hormone.
Now let’s say we have found nine more genes that are involved in thyroid function that we want to test. Although you had an atypical version of THY1, for all of the other nine genes you have the typical/normal version. Having nine typical versions of different thyroid-related genes, and one atypical gene version, the scale is tipped in favour of having relatively normal thyroid function. Someone with one or two typical gene versions and eight or nine atypical versions of all other genes would increase the risk of abnormal thyroid function.
The fact is that there isn’t just one gene for one ailment, and that the results of one gene may or may not affect the health and functioning of the body on a higher level.
How can we use these results in your naturopathic fertility treatment?
Other genes can tell us a lot about what will work for you, especially when it comes to supplements and lifestyle requirements. We can test genes that code for detoxification enzymes of the liver. If one of those enzymes has been built with atypical variants, that enzyme isn’t going to function as efficiently. It could mean that that enzyme works slower or not at all. This could cause a backup of potentially harmful compounds in the body. Where they should have been cleared out earlier, they instead hang around longer and can be problematic.
When we see patients with specific detoxification problems, we can approach this in multiple ways: 1) Avoid excess exposure to the chemicals or substances that are unable to be detoxified properly; 2) Use specific nutrients, orthomolecular compounds and botanical constituents to support this particular detox pathway, or work around the pathway; and 3) We similarly can use supplements to augment the damage from uncleared toxins.
Other examples include the type of supplement you are using. Some genes, when atypical, can slow or reduce the ability to convert the food version of a nutrient into the active version used by the body. If you can’t convert beta-carotene from orange-coloured vegetables into the activated Pro-Vitamin A form, you’re not getting all the vitamin A you thought you were from your diet, and instead taking supplemental pro vitamin A (such as from cod liver oil) may be necessary. This is true of many nutrients and vitamins.
One of the most common genetic polymorphisms talked about right now is MTHFR: an enzyme called methylenetetrahydrofolate reductase that is an integral step in producing the “active” 5-MTHF form of folic acid. The methylation cycle is dependent on multiple factors, but a slow MTHFR enzyme can cause a decrease in active folic acid and a build-up of homocysteine – something of which in high amounts is associated with vascular diseases. The way to address or “treat” this is to supplement with the 5-MTHF form of folic acid.
This is so important in fertility and pregnancy that fertility and pregnancy-focused naturopaths almost exclusively prescribe supplemental folic acid in the 5-MTHF form, on the off chance a patient has a MTHFR polymorphism or mutation. If you have not done genetic testing or have not planned on it, it may be in your best interest to supplement with activated forms of vitamins and nutrients that otherwise would depend on enzymes for their conversion. Your naturopath or healthcare practitioner can help you decide this.
Think of standard fertility bloodwork tests as looking at what’s going on in the body at a moment in time; this moment right now (when the blood was drawn). A genetic test can tell us how the body will potentially react… what it is capable and not capable of… where there might be issues. The recipe (genetic blueprint) is what we use to make the meatloaf, the visual and taste test of the meatloaf (blood, urine or saliva tests) tells us how it turned out – what the end result was.
Does this mean that everyone needs to take a genetic test? The short answer is no. But at the same time these tests can provide a decent amount of information that may actually change your approach to staying healthy and well-functioning long-term. It could also change how you use supplements and could save you money in the long run if you’re currently using a supplement that the body can’t process.
To learn more about how you can support your fertility, or to book an online appointment with a Conceive Health ND, contact us today.