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In the World of DNA, What is Nutrigenetics and is it Right for Me?

What is nutrigenetics, and how do I know if it is right for me? Are you sick, run-down, unhealthy, sad, anxious, achy, and tired of being told that your labs are normal and that there is nothing wrong with you? Are you a competitive type A person who is starting to lose your edge, become forgetful at work, feel like laying on the couch all weekend rather than playing with family and friends? When your labs show nothing is wrong, there is an entire field of science that may provide answers.

Welcome to Nutrigenetics.

Nutrigenetics is a science studying the relationship between the human genome, nutrition, and health. It offers an understanding of how the whole body responds to food via systems biology, as well as single gene/single food compound relationships.

Systems biology is a new way of looking at our health. Rather than thinking of the body as a set of organ systems, as is taught in medical school, it looks at our bodies as energy producers that follow a set of biological blueprints. The energy, or ATP, is made by mitochondria which have their own unique DNA, and the blueprints that run on this energy are the DNA in the nucleus of the cell. The cell membrane functions as a sensor for the environment acting as the actual brain of the cell.

MTHFR is the most popular SNP (single nucleotide polymorphism) that people have heard of when they first become aware of nutrigenetics. It is also the most known or studied in the medical literature. It involves the body’s ability to add a methyl group, or a carbon with three hydrogens attached, to the folate molecule. Folate is B9 and it comes from green, leafy vegetables. The molecule, called methyl-folate is the donor molecule for over 250 biochemical processes in the body. It is one “key to the kingdom” or the gas in your tank. But nutrigenetics offers so much more than just MTHFR. This is just one SNP of the many that matter in the body.

Genetic Protocol testing offers a comprehensive systems-based view of how the body runs and shows you your unique DNA in the systems of methylation, detoxification, mitochondria, neurotransmitters, and inflammation. It is your instruction book for how these systems work for you.

One of the first textbooks in this area, Principles of Nutrigenetics and Nutrigenomics, written at UNC Chapel Hill, sets out to explain nutrigenomics. In it, there is a case report of an infant who received multiple rounds of anesthesia for endoscopies due to a gastrointestinal illness and ultimately wound up passing away due to complications.

Sadly, postmortem testing revealed defects in the baby’s biochemistry or methylation pathway that were there, but unidentified, that made it so that the baby could not handle the repetitive toxicity of the anesthesia load it was given. This is a grave case that proves a hopeful point. Our DNA codes for answers that we now have the ability to study and understand, things that were previously inexplicable (Kohlmeier).

WHAT DOES NUTRIGENETIC TESTING DO AND WHAT CAN IT OFFER YOU? Science has taken the libraries of people who have their genes mapped and compared them to scientific research or libraries of articles, studies, or data on these SNPs. What are SNPs, you ask? SNPs are Single Nucleotide Polymorphisms. To understand this you must realize that DNA is just a series of 4 base pairs or molecules strung together like a ladder. These molecules are Adenine, Cytosine, Thymine, and Guanine. A, C, T, and G. This code dictates how the proteins that perform our biochemical reactions are built. Each SNP represents a difference in a single DNA building block. For example, a SNP may replace the nucleotide cytosine (C) with the nucleotide thymine (T) in a certain stretch of DNA. This change can cause a misfolding of an enzyme or protein which can alter how you deal with the nutrition you take in. Small “misfoldings” can have large downstream consequences.

SNPs occur normally throughout a person’s DNA. They occur almost once in every 1,000 nucleotides on average, which means there are roughly 4 to 5 million SNPs in a person’s genome. These variations may be unique or occur in many individuals; scientists have found more than 100 million SNPs in populations around the world. Most SNPs have no effect on health or development. Some of these genetic differences, however, have proven to be very important in the study of human health. Researchers have found SNPs that may help predict an individual’s response to certain drugs, susceptibility to environmental factors such as toxins, and risk of developing particular diseases. SNPs can also be used to track the inheritance of disease genes within families. There are many areas of genetic testing that a person may choose to have done. These include:

  • Nutrigenetics

  • Pharmacogenetics

  • Prenatal Genetics

  • Genetic carrier screen for cancer- tests like BRCA would fall into this category.

It can get confusing as to what these are and which type of genetics you need.

What is pharmacogenetics? Pharmacogenetics is the study of how genes affect a person’s response to drugs. This field combines pharmacology (the science of drugs) and genomics (the study of genes and their functions) to develop effective, safe medications and doses that will be tailored to a person’s genetic makeup. This type of testing can be done with a simple cheek swab as well and can give a person insight into which medications may work better for them. For example, which antidepressants work best and which may be more likely to cause side effects such as suicidal thoughts. It may also predict whether you may be a rapid metabolizer of medications like pain medicine so that you know before surgery if you may need more pain medication than others. It is my opinion that every child born should have the opportunity to have their pharmacogenetic testing done at birth so that they can have the information available for every doctor they see to make the most educated decision about which medications are safe and unsafe in their care. This can be considered a library that leads to which medicine is best for each individual in each category of drugs so that a doctor can choose what is best for the patient, rather than what samples they have in their supply closet. Pharmacogenetic testing is available at Genetic Protocol. If you would like to add this to your DNA test kit, please email us at

Prenatal Genetic Testing Prenatal genetic testing refers to tests that are done before or during pregnancy to either screen for or diagnose a birth defect.  The goal of prenatal genetic testing is to provide expectant parents with information to make informed choices and decisions.  There are multiple types of testing that can be done, For example, testing can be done on woman before pregnancy to screen for certain diseases like cystic fibrosis or Fragile X that could cause a birth defect in her child. Screening tests do not diagnose a birth defect, they only determine if a fetus is at high or low risk for a specific condition.  Other examples of pregnancy screening tests include:

  • Cystic Fibrosis Carrier Screening

  • Modified Sequential Screening

  • First Trimester Screening (nuchal translucency)

  • Diagnostic tests can diagnose certain fetal conditions with a high degree of accuracy.  Examples of diagnostic tests:

    • Amniocentesis

    • Chorionic Villus Sampling (CVS)

During my practice of obstetrics, we were leaders in the use of prenatal screening genetics and diagnostic testing. When a mother understands all of her risks and options it makes for a much smoother prenatal experience. Knowledge of potential problems and outcomes is key.

Genetic Cancer Screening

Genetic carrier screening for cancer tests for 10% to 20% of many common cancers that are considered “hereditary.” Hereditary cancers are caused by gene mutations that people are born with; passed down to them from either their mother or their father. Testing can be done if you have a known family history of certain types of cancer- like breast, uterine, ovarian, pancreatic, colon, and melanoma to name a few.

Testing can analyze a person’s genes to tell if they carry an inherited mutation that is associated with an increased risk for cancer. Genetic testing in people already diagnosed with cancer can also determine if their cancer was caused by an inherited mutation so that they can look for other cancer risks in themselves or family members.

I have utilized genetic carrier screening in clinical practice since 1997. I was one of the first OBGYNs in Arizona to test all patients at risk, often being scoffed at by local cancer doctors at the time. It was with the use of this type of testing that I realized if these are the “I’m doomed" genes and if you carry these mutations the only answers are to drastically increase surveillance, fear, have surgery, to remove body parts, or take certain anticancer medications, there must be options through nutrigenomics to alter the lifestyle and environment to try to prevent them from manifesting.

By utilizing what we know from the scientific literature on the steps involved in nutrigenetics– namely the systems of the body- methylation, detoxification, inflammation, neurotransmitters, and mitochondria which are like the blueprints, and shifting the view from an organ system by organ system view to an energy view where the mitochondria create the ATP to dictate how the blueprints are followed, you can learn your specific SNPs or weaknesses and what you can do to help them or support them by incorporating different foods, adjusting your lifestyle, or taking specific supplements designed for each weakness.

Each Genetic Protocol test includes a complete bibliography of the scientific research as it stands today on each SNP or mutation so that you can make your own assessment. You can then share your genetics with your provider so that you can make informed decisions about your care.

If you are interested in Genetic Protocol testing, you find more information at References:

  1. “How Nutrients Are Affected by Genetics.” Nutrigenetics: Applying the Science of Personal Nutrition, by Martin Kohlmeier and Gabrielle Z. Kohlmeier, Academic, 2013, pp. 183–185.

© 2020 by Courtney Hunt, MD, PC


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