The ABC’s of SNP’s: The basics of using genetic information in my practice

You may or may not have heard about how genetic information can be used as a guide to improve and maintain your health.  Likely you’ve heard of testing for the BRCA gene that predisposes breast cancer, or newborn testing for inborn errors of metabolism. The potential for using genetic data for managing your health goes far beyond these. Each day there are new advances that have come out of the Human Genome project that directly enlighten us about an the body’s metabolic processes. And each body is different when it comes to the breakdown and use of certain medications, foods, toxins and more.

Your genetics are just part of your story. They are not your destiny; however, we can use genetic information as a tool to help guide your health. We need to be careful to put this information in proper context with your whole health story. When we do, the information can be very helpful! Data and research are emerging every day in this field. Knowledge is still limited but what we know so far can give us great clues to your health.

From a simple sample of saliva or swab on your cheek, a lot of information can be collected. Depending upon which lab is used, your whole genome can be mapped out or we can look solely at select protein codes.

Let’s look at some of the terms and definitions that I use:

Polymorphisms
Otherwise known as variants, sometimes these can be considered mutations. They can also be considered adaptations from our very wise bodies.

SNPs
“Snips.” are single nucleotide polymorphisms. These are the protein codes that show us the variants. Research has been done and is being done comparing genes of individuals with health conditions and the corresponding DNA of a “normal” population. Knowing individual SNPs can help guide recommendations to support genetic weakness or these variants.

Nutrigenomics
The scientific study at the interaction of nutrition and genes, especially with regard to the prevention or treatment of disease. This helps us take a look at the influence of your particular genetic variations on your nutrition.

Pharmacogenomics
This is the study of how your particular genes affect your body’s response to certain medications.

Epigenetics
This new and extremely promising field of study and its associated therapies aims to switch genes on or off in a controlled way in order to prevent disease and create better health. Although we cannot change our genetic code, the latest studies in epigenetics have shown that we can change how our genes are expressed. Controlling elements such as stress, diet, toxicity, nutritional deficiencies, gut/microbiome health, and infections will help you have the healthiest expression of your genes.

Homozygous
When both copies of a gene have a particular SNP or mutation, in other words when both copies are identical, it is considered a homozygous or “same” presentation.

Heterozygous
Alternatively, heterozygous means that a particular SNP or mutation presents differently on the pair, or is not the same on both.

Methylation
Methylation is a process involved in over 250 biochemical reactions in our body. These various processes help maintain our cardiovascular health, detoxification, nervous system, immune and hormones. We all have different genetic variants in our many methylation processes and there are certain genes that are related to those processes. Some have been studied more than others and identified as key to optimal health.

MTHFR
This is the abbreviation for the enzyme methylenetetrahydrofolate reductase, as well as for the gene that codes for this enzyme. It is the rate limiting enzyme in the methylation cycle and one of the more studied SNP’s. MTHFR most often refers to a genetic mutation that inhibits the body’s ability to methylate or convert folic acid from the food we eat into Methylfolate (L-MTHF).

Other SNP’s that I look at include COMT, MTR, MTRR, DAO, HLADQA and more. The tests we employ are always changing. I work hard to stay up to date on the latest available information and reliable testing in this emerging field.

Still confused? Here’s a fun look at SNPs from 23andMe…

So what does all this really mean for my patients?

I believe that this kind of genetic information is useful. For those who need a compelling reason to make lifestyle changes it can be empowering.

It’s important to understand that just because you have a certain mutation or a gene connected to a particular disease does not mean you will get the disease. Modifying your lifestyle to optimize your health can help to engage the body’s natural homeostasis and ability to correct and maintain itself. If the environmental cues necessary for “turning on” certain gene or mutations are not forthcoming, those genes may never be expressed!

No amount of prevention is perfect; however, genetic testing with the counsel of an integrative physician knowledgeable about genetics and epigenetics can empower a proactive patient to take control of the one thing they can most influence in life – their own choices.

About the Author:

Julie Reardon, MD has a passionate interest in empowering individuals to advocate for their own health. A leader in the growing movement of integrative and functional medicine physicians looking for a better way to serve the needs of their patients, she advocates a holistic mindset and lifestyle.

One Comment

  1. Paul March 27, 2018 at 3:57 am - Reply

    What is puzzleing me is if I’ve got a homozygous snp for MTRR how on earth would that not be expressed in the normal biochemical functionality of my biological systems ? Surely MTRR has got a job to do working on the conversion of homocysteine to methionine has it not which has got to be done.?

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