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Dr. Roger Trubey, Dr.PH, MPH, and Doctor of Integrative Medicine
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Genetic Testing – A Discovery into knowing exactly why you don’t feel well and what conditions you are prone to develop!            

Personalized
Targeted
Nutrition exactly
for you!


Since the compilation of the Human Genome Project at the turn of the century and with the successful mapping of all 25,000 human genes, there has been an explosion of interest in knowing what secrets our genes can tell about our health disease risks.

Not only is the interest exploding in the general population but so has the research into our understanding of the role of gene-diet interactions, gene-environment interactions and even the relationship between our genes and our thoughts and beliefs.  These are the bridges into epigenetics, those factors that can dramatically influence our genes.

You see, you may be stuck with a crooked nose or a physical height that makes you a bit vertically challenged, but you are not destined to have diabetes, heart disease, or Alzheimer’s disease because of what your forebearers had to live with.  The science of epigenetics teaches us how we can better understand and in many ways override our genetics weaknesses.  In other words, we can’t change our genes but we can change the expression of our genes.  It is the epigenetic factors that we can change that will determine whether a gene that is predisposing us to a particular disease gets expressed or not. 

It was the completion of the human genome that in many ways fully sounded the death knell of the belief that many of our diseases were genetic in nature and fully awakened us to the understanding that our environment and our food choices can and do alter our genetic expression – sometimes positively and sometimes negatively.

Genes are made up of DNA and the genes have only one job, to make proteins, and each gene makes one specific protein.

The most common form of any gene with the normal expression of the gene is called the wild type.  Gene expression occurs when gene activity leads to the production of the specific protein

When a tiny human is being “knit together” in his/her mother’s womb, a change may take place in the normal (wild type) amino acid sequence that makes up the protein the gene is coding for.  This is called a variant and it may be only a single amino acid that takes the place of another amino acid found in the wild type.

 

 

These small variations are frequently referred to as SNPs (“Snips”) and it is an abbreviation for “Single Nucleotide Polymorphisms”.  I prefer the term variant (but the word mutation is also used) and it is these variants that make us individually unique and quite different from everyone else.  The human DNA consists of over 3 billion nucleotide base pairs, more than 99% of which are identical in every one of us.

The nucleotide base pairs, thymine-adenine and cytosine-guanine will attach with hydrogen bonds like a zipper.  With the influence of sugar-phosphate, they cause the zipper to curl or spiral into the double helix shape of DNA

The fraction that is not is due to these variants.   These variants are not necessarily bad, they are just different and every one of us has our unique set of variations from the wild type.  It is, however, something on the order of 1/10 of 1% difference in our genetic makeup that gives variation in personality, hair color, different disease tendencies, emotional constitution and so much more that provides for all the different features we see in each other.  This genetic variation can also have a very big impact on one’s nutritional requirements.  The relationship of foods to our genetic makeup is the subject of Nutrigenomics and research in this area is exploding.

 

Genetic testing assesses the presence or absence of these genetic variations.  This is extremely helpful as these variants or SNPs can have a profound effect on the functioning of the genes in which they are found.  This in turn affects the biological pathway in which the gene is active, affecting metabolic functions that are important for maintaining a state of good health.  Knowledge of these variants offers a powerful health advantage, enabling me to prescribe lifestyle, nutritional and health information that is exquisitely more precise for each patient.   The precision is due to the fact that with an understanding of your unique genetic variation I am able to provide specific recommendations that compensate for them, preventing them from becoming a health liability.

The Practicality of Genetic Testing

Let’s look at an example of how this works.  20% of the population has the APOE4 gene.  This is the gene that will impact your heart disease risk, memory loss and is one of the main genes related to Alzheimer’s disease risk.  There are APOE2, 3 and 4 genes.  Having APOE2 or 3 does not guarantee you will not get Alzheimer’s any more than having the APOE4 guarantees you will.  But someone with the APOE4 gene must be much more careful with avoiding those dietary and environmental factors that promote the effects of that gene.  Remember genes don’t determine our health destiny, our epigenetics does. 

You see having 1 copy of the APOE4 gene (we get 2 copies of genes – one from each parent) increases one’s risk of Alzheimer’s by 30% or more and with 2 copies the risk increases to at least 50%-70%.    So with that inherited variant one would need to be far more careful in avoiding detrimental environmental factors, eating healthfully, and supporting their body with proper supplements.

Individuals with this APOE4 gene really need healthful fish and fish oil but ironically they have a limited uptake of fish oil fats from the blood into the brain.  So they need to take as much as twice the amount of these oils and fish that someone without the APOE4 variant would need.  And while some may get by with less exercise, those with the APOE4 variant will benefit from a regular exercise program.

In the same way, blood sugar dysregulation is devastating to those with this APOE4 variant.   But with proper nutrition it does not have to lead to this dreaded disease.  All this is true preventive medicine and the earlier one starts the greater the benefit.  It is for this reason that many encourage parents to have their children tested. 

Many individuals searching for a greater understanding of their genetic profile have turned to 23andMe and have been rather disappointed at the avalanche of numbers and genes that provide no understanding as to their meaning, let alone what to do about them.

Taking an At-Home Test

With my at-home test I discovered that I had a small amount of Neanderthal in my genetic ancestry (and yes my children were not surprised), that I was more likely to have blue or green eyes and that I was not likely to be lactose intolerant.  That and some other tidbits of information are interesting but not very helpful in knowing the strategies I need to ensure a healthy life.  But an even bigger issue was found in a limited study completed by Ambry Genetics, a small medical lab in California, researchers discovered using at-home DNA tests to assess for risk of certain diseases or other non-phenotypic traits, such as eye color, resulted in a 40 percent false positive reading.  (GENETICS in MEDICINE  doi:10.1038/gim.2018.38)

What Ambry Genetics found was consumer labs test genotype DNA rather than sequencing it, and use just one method. Although this method is cheaper and quicker than clinical sequencing, it also is less effective and accurate than the clinical laboratory method of sequencing and using another test to confirm a positive variant.  There does not seem to be any question about this as the leading at-home provider of genetic testing said this:  “This data has undergone a general quality review; however, only a subset of markers have been individually validated for accuracy.”  Source: Gizmodo, Another Reminder That Consumer DNA Tests Are Not 100% Accurate

Here is another huge issue as far as I’m concerned – your raw data is not just in your hands but likely in many other hands as well.  The direct-to-consumer DNA testing companies makes it clear in their terms and conditions how they use your DNA, but these firms are not bound by HIPAA regulations, which mean your personal information is unregulated. And, as with all data, the more places it can be found, the more chances it can be leaked.  In fact, one company admitted in 2013 the real goal of the company was not to make money selling DNA testing, but instead to collect massive amounts of data they can use without any further consent.  Source:  Scientific American, November 27, 2013
   
I now encourage my patients to take the genetic test from GX Sciences – a far more functional, useful, practical and safe but also highly accurate test.  One can actually learn something from it.  It does cost more than 23andMe but at least you get results that are meaningful and with practical information that you can immediately put into practice.  You are given specific actionable steps that allow you to correct any dysfunctional genes that can lead to disease progression.  And you are likely to discover very specific reasons why you may be having the problems you are dealing with in your life.  The areas covered in their panels include a multitude of health concerns that most individuals have concerns about or at least in which they have a particular interest.

The GX Sciences Test Panels
Foundation/Methylation

  • Mood or sleep issues
  • Issues with fatigue
  • Neurological symptoms
  • Immune challenges
  • Detoxification weakness
  • MTHFR, MTRR, FOLR

Neurological/Psyc

  • ADD/ADHD
  • Headache/Migraine
  • Seizure disorders
  • Vertigo/dizziness
  • Bipolar
  • Neuropathies/neuralgias
  • Psychiatric disorders
  • Parkinson’s/Gait disease
  • Alzheimer’s/Dementia
  • Memory loss
  • Anxiety/Depression

Autoimmune/Immune/Inflammatory

  • Asthma
  • Chronic infections
  • Eczema/psoriasis
  • Any autoimmune disease
  • Rheumatoid arthritis
  • Lupus
  • Sjogren’s
  • IBD – Crohn’s/UC
  • Hashimoto’s
  • Chronic fatigue
  • Immune weakness
  • Chronic dry eyes

Gastrointestinal (GI)

  • IBS
  • Chronic Constipation
  • Chronic diarrhea
  • intestinal pain
  • Mast Cell disorder
  • Chronic reflux
  • Numerous food allergies
  • Chronic Intestinal Infections

Chronic Pain

  • Arthritis/joint pain
  • Headaches/migraines
  • IBD – Crohn’s/UC
  • “Pins/needles” pain
  • Fibromyalgia
  • Back Spasms
  • Stomach pain
  • Unexplained pain

 Women’s Health

  • Irregular menstrual cycles
  • PCOS
  • Hair loss
  • Recurring breast tenderness
  • Fibrocystic breast
  • Excess facial/body hair
  • PMS/menopause issues
  • Infertility/Miscarriage
  • Family Hx – Hypothyroidism
  • Family Hx – Diabetes
  • Family Hx – pre-eclampsia
  • Family Hx – breast/ovarian/endometrial cancer

Men’s Health

  • Fatigue/sleep problems
  • Low sex drive
  • Male pattern baldness
  • Male breast development
  • Testicular atrophy
  • High blood pressure
  • Loss of strength
  • Needing testosterone

Pharmacogenomic

  • Protect yourself from drug interactions
  • If you have to use a drug know which drug is safer
  • Use the appropriate drug based on your genetic profile

The Foundation/Methylation panel is one that nearly everyone should consider taking.  The process of methylation is a critical biochemical process taking place in nearly every cell of our body.  It is a biochemical transformation that is necessary for the production of energy, detoxification, hormone health, neurotransmitter activity affecting our emotions and much more. 

The focus of the nutrigenomic test by GX Sciences is to look at the interaction between our genes and our immune system, our hormonal function, our ability to detoxify and methylate, the activity of the mitochondria in our cells as well as how well cellular autophagy is functioning.  Autophagy is a major determinant of cellular aging and how fast we age and acquire disease.  Autophagy is the process that cleans out toxic waste (cellular trash) in our cells and repairs any damage to them.  The diseases associated with deficient autophagy function looks like a “who’s who” of all our chronic diseases.

Here is how our genes interact with multiple systems and the triggering events that determine health or disease
 

     

You can see how each of these areas interact with our genes but then notice the many triggering events that act as a primary determinant in causing the expression of our mutated or variant genes.  It is the confluence of these factors that is the driving/underlying force behind our ill health and disease progression. But it does not have to remain this way.  Notice the effect below as we intervene where our genetics are not favoring us and we correct the triggering factors.

     

You can see how each of these areas interact with our genes but then notice the many triggering events that act as a primary determinant in causing the expression of our mutated or variant genes.  It is the confluence of these factors that is the driving/underlying force behind our ill health and disease progression. But it does not have to remain this way.  Notice the effect below as we intervene where our genetics are not favoring us and we correct the triggering factors.

 

Using Genetic Testing to Improve your Health

 

Most all degenerative diseases today are initiated and sustained by inflammation.  And that is not surprising when you look at the inflammation genes in those with chronic diseases.  It is not unusual at all to find the “ON” genes that turn on inflammation stuck in the “on” position, pushing us toward inflammation.  But the worst case picture is to find the genes that are designed to turn off inflammation “broken” and not functioning.

When we find this unfortunate genetic variation we can use diet adjustments and supplemental nutrients to downregulate the inflammatory genes and in the same way upregulate the genes that turn off inflammation.  This is the first and most important step in escaping the chronic disease trap. 

And this, of course, is one of the important focuses of the Immune/Autoimmune/Inflammation Panel and would be especially beneficial to anyone with immune challenges or autoimmune disease.

It is important to note that none of us have the perfect set of genes.  We all have some genes that promote health and some that set us up for disease if we are not careful.  My genetic profile is one that has the propensity to inefficiently detoxify and encourage inflammation.  Therefore if I am to avoid disease I need to be observant and avoid as much as I can all those triggering factors/events seen previously.  And then take it one step further and be much more careful with my diet with supplements supporting detoxification and downregulating inflammation.

Some genes are involved in multiple areas/functions in the body.  The COMT gene for example, is involved in neurotransmitter activity, hormone regulation and methylation.  So we certainly would want normal function with this gene, but if we have a mutation on that gene it becomes very important to use epigenetic nutrients to modify the dysfunction of that gene by quieting its negative activity.


Women’s Health


Approximately 80% of breast cancer occurs in women with no family history.  Therefore the driver of breast cancer is strongly related to dietary and environmental factors.  The research is quite clear; an increased lifetime exposure to estrogen along with an unbalanced estrogen metabolism is a strong risk factor in the development of not just breast, but ovarian and prostate cancer along with excess estrogen disorders, such as endometriosis and PMS/PMDD. 

Specific gene variants coding for genes involved in estrogen metabolism, combined with certain environmental factors, along with elevated estrogen pose an increased risk for developing estrogen dominate disorders and breast cancer. The Women’s Health panel is especially beneficial in providing women and girls of all ages as to the degree of risk they have in their genetic profile for breast cancer as well as specific steps that can be taken to mutate those risks

With the ubiquitous amount of estrogen-like chemicals from our food, air and water, acting as triggering agents, this panel can be very helpful as females are not uncommonly found to have excess estrogen flowing through their bodies and disrupting many different organ functions.  Knowing specific risks allows for very specific action to eliminate those risks to our health.


How practical is the GX Sciences Test?


Consider a few other very useful pieces of information that you will be able to glean from the treasure trove in your GX Sciences reports:

  • Consider that an individual with a double variant APOE4 gene has a 50 -70% increased risk of Alzheimer’s disease. But if the same individual has a head injury their odds of Alzheimer’s disease increases by a factor of 10 – that’s ten times greater risk.  Would that information be useful in making sporting activity decisions for you, your child or grandchild? 

  • Many individuals take probiotics but it would be interesting to actually know if there is a great need to be taking them.  The FUT2 gene codes for a production of specific sugars that are secreted by our intestinal cells and very much needed for the survivability of our friendly bacteria.  Individuals with a genetic variant here fail to adequately produce them and they need to take probiotics on a daily basis.

  • Whether gluten should be consumed or not is a hot topic today.  That gluten can cause intestinal sensitivity whether you have a genetic tendency or not, is certainly true.  But knowing if you have a polymorphism on the HLA-DQA1/2 genes would certainly give you a discreet advantage in knowing whether avoidance was a serious issue or not.  Variants of this gene with the regular consumption of gluten can increase one’s risk of celiac disease, inflammatory bowel disease and a strongly negative response to gluten in multiple area of one’s body.

  • If you knew you had a double variant of the VDR gene that might give reason as to why your vitamin D level is always low.  Would that be of interest to you?  And if you know that it would also increase your risk of osteoporosis later in life, would you be more aggressive in what you should do to keep that gene from being expressed?  You will find that information in several of the GX Sciences reports.

The Human genome contains at least 4 million “switches” that can either turn off a gene or turn it on by dietary and environmental factors ( chemical, heavy metals, mold toxins, infections  etc.) and life experiences.  These good and bad epigenetic influences, like a virtual “tug of war”, are constantly working for us and our health or against us, putting us at risk for illness of many types.  Knowing our genetic variants and the steps needed to reduce their effects, enables the health side of this “tug of war” to have a much greater advantage than the illness side.

The Pharmacogenomic Test

In the same way that our diet can influence the expression of our genes, medicinal drugs can have a similar effect.  Differences in DNA sequences that alter the expression or function of proteins that are targeted by certain drugs, can contribute significantly to variation in individual responses to those drugs.  Imagine being able to tell your health care provider which particular drug may be much more acceptable by your body and which one might have more adverse effects.  This is another extremely useful panel available from GX Sciences for those using prescription meds.

Who Should take the GX Sciences Genetic Test?

So who will benefit from genetic testing?  Probably all will to some degree… ok perhaps not if you are already 105 years old and you are still taking daily walks.  But otherwise those who could particularly benefit would be:

  • Those who are adopted and have no idea of the health history of their biological family
  • Those with gastrointestinal disorders- IBS, IBD, food allergies/sensitivities, hives, reflux,
  • Those challenged by stress, anxiety, depression, excessive fatigue or sleep issues
  • Families with members living with ADD/ADHD
  • Those having a family history of dementia, Alzheimer’s, or Parkinson’s disease
  • Individuals with autoimmune disease or having parents with autoimmunity
  • Those with a strong family history of cancer, stroke, heart disease or diabetes
  • Individuals sensing a predisposition to obesity
  • Women with female problems – fibroids, endometriosis, infertility, PMS
  • Sport competitors seeking a competitive edge or budding athletes contemplating competitive sports
  • Those living with pain
  • Individuals using pharmaceutical drugs who wish to know the better choice of drugs for them
  • Parents wanting to give appropriate health guidance to their children.
  • Women contemplating pregnancy or hormone therapy or just want to stay healthy

This last category is perhaps the single best time to get this testing done.  Testing and making appropriate adjustments based upon the results could make a profound difference in the health of the child lasting their entire lifetime.  Epigenetic effects naturally take place in the course of life, but much of it happens in that first month in the womb.   It was best stated by William Walsh, Ph.D., Chairman of the Walsh Research Institute:

  • “The key time to make an impact is before a woman gets pregnant and during the first month – even during the next nine months.  This is when these genetic variations get caused – autism and spina bifida and a predisposition for things like mental illness and heart disease.  So nutrition is incredibly important.  These ‘bookmarks’ are there for the rest of your life.” 

Avoidance of these unhealthy epigenetic effects can only be done if we know which ones are more likely to impact our genetic expression.  What you don’t know can affect you.  Yes, you are uniquely you and with GX Sciences testing you can discover your genetic singularity – those factors that you can enjoy as well as those factors that you must not ignore but take charge of, to ensure a long and healthy life.  It’s true that we can’t change our genes but we can change the expression of our genes. Remember, our genes tell us our tendency not necessarily our destiny.   With only a simple cheek swab to get it done, you have some amazing and very important discoveries awaiting you. 

 

 

 


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