Updated: Sep 2
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The popular view of genetics is, in many ways, outdated.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.