Uncovering Genetic Mutations: How to Test for Them

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Uncovering Genetic Mutations: How to Test for Them

genetic mutations

Dr. Doni explains why she recommends genetic testing, the different kinds of tests available for genetic mutations, and what they can tell you about your overall health and well-being.

Part 2 of Dr. Doni’s Series on How Genetic Mutations Affect Your Health

In this blog series, I will be talking all about genetic mutations, how you can easily test for them, how they can affect your health, and what you can do to address them. Testing for and addressing genetic mutations is one of the newest approaches in healthcare and one that many practitioners have not yet integrated into their practices. At the same time, this relatively new ability to determine gene mutations combined with research that shows us what we can do about them can truly be power at your fingertips when it comes to managing your health.

Last week, we discussed how knowing which genetic mutations you have makes it possible to address the underlying causes of your health issues. I emphasized that when I talk about genetic mutations, I am referring to mutations in DNA that are not life threatening in the immediate future. What we are looking at are mutations that decrease processes in the body that affect the way vitamins are activated, toxins are detoxified, and neurotransmitters are made or destroyed. As a result, they can make you more likely to feel tired and anxious, and to have allergies or autoimmunity, for example. But none of the health implications are set in stone, because we can influence the outcome with stress remedies, lifestyle, diet, and nutrient choices.

We all have some of these mutations. The question is which?

This week’s blog is all about the testing that is available and how the results can inform what we do to improve your health.

Testing for genetic mutations

Testing for genetic mutations and then determining how they are affecting your health usually comes down to a three part process:

  • Phase 1: Getting your genetic data
  • Phase 2: Translating that to genes and SNPs
  • Phase 3: Tests to help you to understand how those SNPs are influencing your health

Phase 1: Getting Your Genetic Data

There are a bunch of labs that now offer varying amounts of genetic testing via saliva, blood, and cheek swab. I’m sharing a few of them here to give you a sense of the options.

Saliva tests that you can order yourself online (usually $199 or less):

These three companies have a genealogy focus rather than a health focus–they show your ancestry based on your DNA and provide interactive ways to connect with your relatives online. What they don’t do is give health information related to your genes, but they will allow you to download your genetic data, which can then be used to determine which mutations you have.

Tests that are ordered by a clinician:

  • GenoMind – A saliva test for genes that affect mood and mental health
  • Prometheus – A blood test for genetic predisposition to Celiac Disease
  • Pharmasan – Saliva tests, with various panel options, to test for common genetic mutations
  • Kimball Genetics – A cheek swab (or buccal swab) test for genes associated with Celiac Disease
  • Quest, LabCorp, and other labs also offer blood tests for certain genetic mutations such as MTHFR

Phase 2: The Raw Data and How to Interpret It

Keep in mind that the FDA prohibits open access labs from offering health-related information based on your genetic panel. This means that the saliva tests you can order online will be for ancestry information only. However, they can provide you with what is called your “raw data,” a number/letter listing of your genes. Hidden within what appears to be a scramble of letters are your genetic mutations. When your genes are compared to the human genome, it is possible to find the differences. These differences are called SNPs or mutations. These differences in your DNA are what make you YOU and can affect processes and systems in your body when they’ve been activated by stress.

But don’t worry—you don’t have to do all the letter matching yourself. There are software programs that will upload your raw data and provide a neatly organized report showing your mutations, and whether they are homozygous or heterozygous. Homozygous means that there is a mutation on both strands of DNA and heterozygous means that the mutation is on just one strand.

Here are links to three online tools that process raw data:

Note: Please use these tools with caution! Be careful with your personal information and be prepared to see information about your genetic health. Consider having your practitioner help you with this step in the process.

Even using these programs, it can be time-consuming and overwhelming to get the data and then successfully process it, not to mention the difficulties of interpreting the data if you don’t know what you are looking for. If you would prefer to have help processing and interpreting your genetic data, you may want to consult with a practitioner who has been trained to do just that. You can find practitioners in your area by searching here.

I’m happy to help as well. Learn about scheduling an initial appointment with me, in-person or by phone/Skype) on the Make an Appointment page. I have developed a consultation package for just that situation, so I can support you to process and interpret your raw data and then advise you on how to use the information to maximize your health. Find out about that package below.

What the Tests Tell Us

The saliva panels you order for yourself, and the raw data they provide, will give you a fairly comprehensive list of genes, but will not include all of them. However, once the data has been run through a program that creates a report you will have more information than you would if you did a condition-specific genetic panel (such as those ordered by a clinician’s office), but you may still find that some of the genes you want to know about are missing simply because they were not included in the original data. Ongoing research will continue to increase our knowledge over time.

For most people, however, you will get plenty of information about many of the genetic SNPs that have been researched enough for us to have an idea how to address them and how they may be related to your current health issues.

Phase 3: How SNPs Are Affecting Your Health

If you find that you do have SNPs that may be affecting your health, the next step is to do a urine organic acids panel and potentially also a methylation panel (this would be a blood test) if you have SNPs that affect methylation. These tests show us the metabolites in your body that indicate the function of the various processes and enzymes that are determined by your genes. Remember that having a mutation doesn’t necessarily mean it is affecting your processes and health. It is only by checking your urine and blood that we can find out the influence your genes are having on you! These two would have to be ordered by a practitioner.

If your SNPs indicate that you may be predisposed to allergies and food sensitivities, then it would be helpful to do an IgG and IgA food sensitivity panel to see whether you have developed reactions to certain foods so you can adjust your diet accordingly. At the same time, if you have SNPs related to neurotransmitters, such as serotonin, dopamine, and norepinephrine, then testing your neurotransmitters levels (a urine test) can be useful. Cortisol, our main stress hormone, can be both influenced by your SNPs and influence how your genes affect your health—so testing your cortisol levels (four timed saliva samples) will help you understand what you can do to improve your health.

Depending on your specific genetics, there may be other tests that you decide to do to help you get a clearer sense of whether SNPs are playing a role in your current health issues. That may include blood work for autoantibodies, stool tests that tell us about your digestive function, and blood and/or urine tests to show nutrient levels in your body.

To help you get started with testing for your genetic mutations, how they are influencing your health and what to do about it, I created a Genetic Profile Solutions Package. It includes an comprehensive initial appointment with me (in-person or by phone/Skype) so that I can learn all your health concerns and review your records. Then it includes the testing mentioned in this article and follow up sessions so that we can review your results and create a plan to support your health. It is the most cost effective way to get this information and a plan built for you.

What to Do Once You Have Your Results

I want to emphasize that while it is possible to explore your genetic mutations by yourself, and you may gain some useful information, I do encourage you to choose a practitioner to support you in the process. The reason I say this is that the processes in the body are highly responsive and dependent on each other. Say you find one genetic mutation—MTHFR for example—and begin to address it by taking methylfolate*. Well, if you also have SNPs on MTRR, COMT, CBS, and/or BHMT, then you may actually feel worse from taking 5MTHF. This is because you will have supported one step in the process, but not the other steps, and a ripple effect can result. A trained practitioner will be able to help you understand how your various SNPs are interrelated and how to address them in a way that hopefully avoids aggravations (and making you feel worse).

If you are curious, but not sure what you need, you could start by scheduling an initial consultation with me. That way we can review your case and I can help you get a sense of your next steps. You can schedule a consultation online here or by contacting my office here.

At the very least, testing for genetic mutations is a learning process. You’ll be learning about your body and what it needs, and how it responds to changes. But you’ll want to go about this slowly and carefully so as not to rock the boat too much.

In next week’s article, I’ll describe the methylation cycle and the most common SNPs associated. And in a subsequent post in this series, I’ll describe steps you can take to support methylation. To be sure you receive these articles, and others, you can either subscribe to this blog’s RSS feed in the right margin, or to my newsletter below.

Finally, a quick note to say that some of the tests mentioned in this article are not available in New York State at this time. New Yorkers can travel out of state to complete the testing.

–Dr Doni
th March 2015

*Please keep in mind that any and all supplements—nutrients, herbs, enzymes, or other—should be used with caution. My recommendation is that you seek the care of a naturopathic doctor (with a doctorate degree from a federally-accredited program) and that you have a primary care physician or practitioner whom you can contact to help you with individual dosing and protocols. If you ever experience negative symptoms after taking a product, stop taking it immediately and contact your doctor right away.

Photo credit: “DNA” by Stefano is licensed under CC BY-SA 2.0. Changed from original: Added text overlays.

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  1. I like how you said, “…start by scheduling an initial consultation…”. I’m going to get myself tested for disease. I feel that it would help me plan for upcoming problems. Also, I would be able to anticipate changes in my health. What sort of diseases are common?

    • I’m thinking of the most common chronic diseases and leading causes of death: Cancer, Heart disease, diabetes, Alzheimer’s… autoimmune conditions and degenerative diseases.

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