Do you need to get Genetic Testing done?

Therese Martinez

Do You Need to get Genetic Testing?

 

Last week there was an online summit on “Interpreting Your Genetics” led by the Evolution of Medicine, a partner of the Institute of Functional Medicine. I tend to jump on these online summits because 1. They are free, 2. The information can be very useful, and 3. I get to know some functional medicine speakers across the world and what they are studying, researching, and applying. The talks are only available for the week unless a person purchases them, so naturally I try to watch them all before that point. This topic was initially a little less interesting to me so I hadn’t prioritized the talks too much, but once I started listening about the tests I got more interested. This is largely because I have a lot of clients that ask me about genetic testing and if they should do it, as well as clients that have already done it and talk to me about it. I personally have never done a genetic test, but have definitely looked into it and attempted to understand the value.

A few of the talks gave me some more insight into the value of genetic testing, the populations that could benefit largely, and those that may not need to have it on their radar quite yet. I discovered some new applications, and some surprising findings. Part of me wants to believe there is this amazing new technology where we can determine the best way to eat, exercise, live, and thrive based off a test, yet know that to be too good to be true. This is also fine, because there is another part of me that hates the idea of such an easy way out and want people to create more mindfulness for themselves and their bodies without depending on a test. So today I want to share with you some of what I learned in the hopes that you can figure out for yourself if genetic testing is right for you.

 

What is genetic testing?

In short, according to the Human Genome Project, genetic testing “uses laboratory methods to look at your genes, which are the DNA instructions you inherit from your mother and your father. Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments”(1). In the test, these gene mutations show up as something called SNPs (single nucleotide polymorphisms, pronounced ‘Snips’).  These are the most common type of genetic variation. For example, cytosine (C) might replace the nucleotide Thymine (T) in a DNA strand. SNPs are normal to have in your DNA and occur roughly once in every 300 nucleotides, making a total of about 10 million in the human genome. They are primarily found amongst genes. This can be helpful when trying to identify certain genes associated with disease and determining their influence in that genes function and/or malfunction (3). It is important to note that just because there is a SNP that correlates with a gene mutation related to a disease or predisposition to something that may be positive or negative, it does NOT mean that that will come to fruition, and also vis versa. This is very important to note and a huge reason I want to recommend to proceed with caution. With that said, genetic testing can help:

  • Diagnose disease
  • Identify gene changes that are responsible for an already diagnosed disease
  • Determine the severity of a disease
  • Guide doctors in deciding on the best medicine or treatment to use for certain individuals
  • Identify gene changes that may increase the risk to develop a disease
  • Identify gene changes that could be passed on to children
  • Screen newborn babies for certain treatable conditions
  • Determine supplements that may help optimize health
  • Determine what type of exercise may be ideal for your body type

Sounds pretty cool, right? I would tend to agree, with a few hesitations. I think the technology is incredible and only improving, though the application may be a little limited for the majority of the population, taken too seriously for select situations, and misunderstood in the interpretation. There are quite a few variables at play when determining if a genetic test is right for you, beyond those listed potential discoveries it may hold for you.

 

Why get a test?

I heard time and time again with these talks that FIRST and FOREMOST, you need to check into your lifestyle before getting a genetic test. If you are struggling with weight, attempting to optimize performance, or are struggling with energy, chronic fatigue, or other symptoms, you need to dial in four areas of your life before testing. These areas include stress and sleep management, healthy diet (and possible elimination diet protocol), and appropriate activity. If you have not addressed all of those, then it is highly recommended you do so before getting a test. If you do not know how to address these, please ask me. Other than that, reasons you may get a test:

 

  • Family history. Genetic tests can tell you your susceptibility to developing a certain disease. Perhaps you have a family member that died of lung cancer or developed Alzheimer’s at a young age and you are concerned if it could happen to you. This is a popular and understandable reason one might want to get tested.
  • You are chronically overweight. Have you already started working on healing your gut? Have you worked with a functional medicine doctor? Are you looking to up your health game? If you have done all of those and still struggle with your weight, sometimes getting testing done can reveal other reasons why you may be struggling. (This can also apply to those that struggle to gain weight)
  • Optimizing performance. I know people that have gotten tests done to see what exercise is “the best”. While I am usually just happy when people are exercising and excelling, I think this information is interesting though sometimes less valuable than one would think. Why do you want to learn what’s best for you? What if you are more of an endurance athlete but you love Crossfit? Are you just going to switch over? Consider the accuracy of the tests, too. Sometimes they are merely suggestive and not to be taken as gold.
  • Experimentation is time consuming and very challenging to isolate variables. There are ways to be your own experiment when it comes to diet and exercise. A popular way this has taken off recently is through elimination diets like the Whole30 and reintroducing foods in a methodical manner. Sometimes the diets need to be longer than thirty days, and sometimes it is just too hard to isolate other variables that may be affecting how you react to food. For example, you decide to increase your fat intake and notice more fatigue and energy depletion during workouts. Maybe its the macronutrient change, or maybe its because you only got five hours of sleep the past five nights preparing for a presentation. What is really contributing to the fatigue? It is VERY hard to manage all variables methodically, which is the only way to more accurately identify effects. Genetic tests can be a little more efficient. Please note I am NOT saying to get these tests done to find food sensitivities or allergies. The application is more in line with specific nutrient effects.
  • Labs. Sometimes people can be making all the right choices for their health, feel great, and still have compromised lab results. In these cases, there can be mutations that are playing a role in how your body is handling the food you eat. After seeing that your high fat low carb paleo diet is increasing your LDL particles and not understanding why, a test could reveal you have issues with fat metabolism. In this case, your healthcare practitioner may recommend cutting back on your bullet proof coffee and possibly manipulate your diet in other ways.
  • Pharmacogenetics. Genomic data can be used to identify the best pharmaceutical choices for individuals. This is SO cool. They can help to see how people metabolize and respond to drugs like SSRI’s or cancer drugs and then determine how effective they will be.
  • Similar to the pharmacogenomics and the diet intake, certain gene mutations can indicate a need to supplement a certain way due to problems with metabolic pathways leading you to need to cut back on certain nutrients. It can even tell you how sensitive to caffeine you are and how well you metabolize alcohol (4).

 

Why shouldn’t you get a test?

  • Genomics. Genomics is the study of how genes work together. There can be SNPs that seem unrelated but then the recommendations will be contradictory to each other. This means the company evaluating doesn’t understand genomics well enough to make appropriate recommendations for you, or that the test itself has other variables to be considered. A a lot of places/interpretations just highlight SNPs and make these contradictory recommendations (4).
  • You are not sure if you can handle the emotional stress that may come with SNPs that reveal you may be susceptible to developing a disease or condition. There is not shame in this and it is VERY important to reflect on.
  • You have not addressed your sleep, stress, diet, and exercise and attempted to dial all of them in.
  • Tests can range from $100-$1,000+ so it can put quite a dip in the pocket. Various interpretations will cost additional and if you are constantly searching for more input this can get to be quite the spendy venture.

 

Overall, if you do not mind spending the money, are willing to put in an effort to research different test types and interpretations, have dialed in your other lifestyle elements, and still want more information about optimizing your health or simply understanding susceptibilities to diseases and conditions, then testing is a very viable option for you. I plan on doing some more research with the various companies and looking into pros and cons of them to share with you all. I also plan on looking into how to best interpret your data, be it through other companies, healthcare practitioners, or even yourself. For now, I hope you have a better idea of what genetic testing is and the general pros and cons of getting tested. These were some of the companies they talked about on the summit, addressing some pros and cons of all of them. I know there are a lot more, too. I decided not to share the pros and cons with you without doing some more research my own self, though. Needless to say, there is so much more to learn about all of this and it is SUPER exciting! PLEASE let me know if you get tested and what your experience is like! Or if you already have, I would also be very interested in knowing where you went and what you learned.

 

Testing Companies:

 

  • DNA Health
  • 23 and Me
  • Prometheus
  • Selfhacked
  • StrateGene

 

Therese Martinez, MS, RD, CPT

 

  1. https://ghr.nlm.nih.gov/primer/testing/interpretingresults
  2. https://ghr.nlm.nih.gov/primer/genomicresearch/snp
  3. https://www.genome.gov/19516567/faq-about-genetic-testing/
  4. http://geneticssummit.com
Therese Martinez, MS, RD, CPT

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