Updated: Sep 9, 2019
Many people are nervous at the thought of genetic testing. They may have heard about celebrities who have had surgeries based on genetic findings and worry that a doctor will pressure them into making life-changing decisions based on genetic results.
The popular view of genetics is, in many ways, outdated. About 20 years ago there was a belief that there would soon be a 'gene for every disease.'
Meaning that, for every disease we would be able to identify a single gene as the primary culprit.
The reality has proven to be more complicated.
Our genetic data operates collectively as a symphony, and the music can change as we change our behavior.
You should feel empowered by the knowledge that your lifestyle has a significant effect on the way your genes express themselves.
Functional Medicine and Genetics
The genes that a functional medicine doctor is primarily interested in are those that can indicate that you are at a higher risk for developing certain diseases - but it is the 'why' behind that risk factor that holds the most important information.
If this increased risk is primarily because you have a reduced ability to detoxify your blood, the functional medicine approach to this problem would be to support your body's detoxification pathways with the goal of optimizing liver function and mitigating your disease risk.
Genetic data is only useful if some meaningful, proactive change can be made in your life to increase longevity, lower your risk of disease or reduce current symptoms.
Knowing risk for the sake of it is not very useful - unfortunately, many doctors just relay the risk factors without the helpful information on how to reduce that risk.
Genetic Assessment Is Not Fortune Telling
A functional medicine doctor who evaluates your genetic data correctly will educate you about what processes in the body are potentially affected, and may run additional blood tests to confirm these findings.
For example, if you have genes that indicate that you may have a low level of usable vitamin A, your doctor may test to see your vitamin A levels.
Functional medicine interventions like diet and lifestyle changes and the correction of fundamental imbalances (like nutrient deficiencies) can mitigate or prevent many serious diseases like Alzheimer's disease  and heart disease .
Remember, just because you have an 'elevated risk' for something does not mean that getting that disease or condition is inevitable. Much of your health is in your control and is directly attributed to how you live your life.
An Example Case of Hypothyroidism
At all times genetics must be considered in the context of the individual. Let's look at the example case of 'Mary,' a 39-year-old woman.
She has persistent bloating and constant fatigue - she was also diagnosed with hypothyroidism four years ago and is currently on thyroid medication.
Since a functional medicine appointment is about an hour long - it allows the patient to go into detail regarding symptoms.
During her appointment, it comes to light that Mary is not just fatigued, but exhausted, and can barely push through each day.
The sleep she gets at night does not feel restful, and when she wakes up in the morning, she feels nearly as tired as when she goes to bed.
In addition to the lower abdominal bloating, she has occasional constipation and loose stools after eating certain foods.
Mary has been noticing gradual weight gain around her midsection and her thighs despite increasing her exercise and cleaning up her diet significantly.
She was prescribed medication for her thyroid, but she does not feel that it helps her energy levels or other symptoms.
Hashimoto's Thyroiditis: Why It's Missed
The most common cause of hypothyroidism in women is Hashimoto’s Thyroiditis. Mary had never been tested for this autoimmune condition. It is very common for doctors only to test the T4 and TSH markers.
Ideally, thyroid antibodies (Anti-TPO and Anti-TG) should be evaluated on every patient with hypothyroidism. In this case, after testing, we found out that Mary did have Hashimoto’s Thyroiditis.
This diagnosis leads to the identification of possible sources of high inflammation that may be exacerbating Mary’s symptoms. In Hashimoto’s, pervasive inflammation is common.
A few factors that may make inflammation worse are poor gut health, toxic burden (accumulated heavy metals or toxic chemicals), nutrient deficiencies and biochemical stress.
The Genetics of Hypothyroidism:
After reviewing Mary’s genome, it was found that she had several FUT2 genetic variants which have been implicated in gut flora issues. Mary’s ‘good' bacteria were not as numerous or as strong as they could be.
Underperforming ‘good’ bacteria can result in a compromised immune system; it can hinder digestion, cause poor nutrient absorption and make it easier for ‘bad’ bacteria to establish a home in the digestive tract.
FUT2 partially explained her IBS-like symptoms of alternating diarrhea and constipation.
The combination of a poor diet for many years and her genetics set the stage for harmful opportunistic bacteria to become established — causing her uncomfortable bloating and weight gain.
A compromised gut microbiome can also be a factor in the progression of an autoimmune condition.
A specific kind of probiotic was prescribed to replenish her gut with ‘good’ bacteria. Her diet was modified to include foods to strengthen her digestion, and particular foods were removed that were perpetuating the bacterial imbalance.
The probiotic prescribed and the dietary changes are not listed here because they are highly individual, they will change (and sometimes change completely) with each patient with these same genetics.
The Genetics of Hypothyroidism:
GSTM1 (Glutathione S - transferase M1)
GSTM1 is a gene that is responsible for synthesizing glutathione in the liver. This gene is crucial in the removal of harmful toxins made in the body.
These toxins are byproducts of chemical reactions as well as low-grade chemical accumulation from the environment.
Glutathione is the body’s master antioxidant; among other its other duties, it keeps you looking and feeling young.
With enough glutathione, the body can better handle attacks from various diseases, toxin exposures, and stressors.
For Mary, this anti-aging and detoxification gene was severely impaired. The low dose accumulation of chemicals in her food, cleaning supplies, and cosmetics all placed a tremendous burden on her body.
Mary's toxic load reached a level where she had more accumulated toxins than her body could safely handle. Since she already has a difficult time detoxifying her body, her liver became overwhelmed and was unable to do its job of filtering blood adequately.
Her nervous system also had a significant strain on it from all the toxic junk building up in her body, resulting persistent fatigue and poor sleep.
Mary was put on a specific diet to ‘speed up’ her slower rate of detox. We cleaned up her diet and home to eliminate major sources of daily toxins.
She was placed on a protocol to slowly revive her toxic gut and liver which, in turn, rejuvenated her nervous system. She finally felt ‘alive’ again. When her nervous system was vibrant and healthy, she was able to get good quality sleep and be alert and active throughout the day.
Read more about The Dangers And Potential Sources of Toxicity
The Genetics of Hypothyroidism:
Vitamin A, once active in the body, does amazing things to keep your eyes healthy, immune system strong, and skin vibrant. For Mary, her body has a difficult time converting dietary sources of vitamin A to an active form that she can use.
BCO1 causes an 'active' vitamin A deficiency of approximately 40%.
We confirmed the suspicion of vitamin A deficiency through a blood test. Since vitamin A is essential for the immune system, a 40% decrease can be detrimental over time.
Using her genetic data, we included vitamin A in her regimen to strengthen her immune system so her body could clear the harmful bacterial infection in her gut contributing to the bloating and digestive issues.
She also noticed that her skin looked noticeably more healthy.
The Genetics of Hypothyroidism:
GAD1 keeps your brain and nerves calm especially during stressful situations. When some people experience long-term emotional or physical stress, this gene/enzyme process can run low on the vitamins it needs to work properly.
Combine chronic stress and a genetic variant which makes this ‘calming’ gene is less efficient, and you have a situation where someone feels physically stressed without any external stressors.
Mary never seemed to be able to physically ‘calm down.’ Even when she was mentally calm, her body felt like she was under incredible stress.
We boosted this gene's function with two cofactors necessary for this gene to operate optimally.
Mary noticed that she mentally, emotionally, and physically felt calmer, and more at peace.
How It All Fits Together
In Mary, genetic factors contributed to her symptoms, including the persistent inflammation of her thyroid.
When each of these factors were adequately addressed, her energy returned, she slept better, she lost weight, her digestive system improved, and her thyroid inflammation decreased to a point where labs could no longer pick up high levels of antibodies.
The Limitations of Genetics
There is a temptation to conclude that all of your medical problems can be solved by the correct application of treatment based on your genetics.
The fact is that many medical issues that lead to more serious conditions are not genetic in nature.
Heavy metal toxicity is widespread and is known to contribute to many disease processes  as well as neurobehavioral problems in children . Nutrient deficiencies  also play a key role in many degenerative diseases.
There is also emerging research that hypothyroidism has a viral component . The detection and treatment of underlying infection is one of the many reasons where functional medicine's tools are uniquely equipped.
Genetic interpretation is one tool of many and should not be used as the sole resource of your health status.
Genetic Testing is Not Infallible
It is also important to note that, in some cases, the genetic testing process can produce errors .
The increased use of third-party testing - which is a much cheaper option than going through a medical lab - has the downside of having less rigorous procedures when compared to a certified medical laboratory.
If your genetic data has life-changing implications, then additional testing is needed.
You should never rely on online genetic software data as reliable medical advice.
Treatment Must be Tailored to the Individual
Genetic data can be a fantastic guide map. Keep in mind that there are patients with the same diagnosis and the same genes listed above with entirely different presentations, different symptoms, and who require different treatments to get relief.
If we had found severe mercury toxicity or had Mary had been diagnosed with Crohn's instead of Hashimoto's - our approach would have been different.
Lifestyle factors, biochemical needs, nutritional requirements, and psychological wellbeing can play just as great a role in a persons health as genetics can.
Everyone is unique, and genetic testing is only useful when it is applied with the entire patient in mind.
If you would like to speak to me to ask questions about functional medicine, Hashimoto's, hypothyroidism or how I can help you, please schedule a Free 15 Minute Consultation or call or text my office at 913-728-5291.
If you think that you may have a medical emergency, call your doctor or 911 immediately. No action or inaction should be taken based solely on the contents of this information. Nor should you ever delay seeking medical advice or treatment due to the information contained on this Website.