Reading the secrets of your body with genetic testing
As a researcher with a PhD in genomics, it is fascinating for me to see how genetic tests work in action. The feeling of getting the results is similar to that if you could peek into a secret world, as if you could read the Rosetta Stone’s ancient old Egyptian hieroglyphs. The difference is that in this case it tells you a story about yourself and not the pharaohs.
I already have some experience with genomic tests in my life – with Navigenics, Pathway Genomics, My Gentle Labs and Futura Genetics. But there are many more on the market: FamilyTreeDNA, Ancestry.com, Complete Genomics, or WeGene. You find my review about Navigenics here, Pathway Genomics here, Gentle Lab there and Futura Genetics there. I also analyzed and regularly re-analyze my own raw data with Promethease. To be honest, I truly love the possibility of getting insights about my genome, not just measuring my vital signs with the help of sensors and wearables.
What can you find out from your genetic test?
You can get to know what kind of mutations you carry and what kind of diseases you have a risk for. Basically, there are two kinds of diseases. The first one is called a multifactorial disease, where genetic components and environmental factors play significant roles together in developing a risk. The risk shows how much chance you have for getting the disease later in your life. The second one is called monogenic disorders. In their case, one change in the code of the DNA leads to the disease. It’s deterministic.
However, you have to keep in mind that what really matters is to have an appropriate lifestyle. Concerning many diseases, a genetic test does not add any new information to the already known factors which reduce health-risks: sports, no smoking, only little alcohol & healthy diet. So if you have a higher risk for diabetes, you might mitigate or intensify it with your lifestyle. As the saying goes: genetics loads the gun, lifestyle pulls the trigger.
So, what I look for in a genetic test is definitive results, not only percentages or probable risks. When the team behind MyDNA approached me to try their test, I got curious. Let me tell you why.
Pharmacogenetics and coffee sensitivity
The genetic test not only promises to give you an insight into your genetic code – what risks and mutations you carry – , but it offers you insights into how you metabolize certain medications; and thus whether you might have a bigger risk for specific side effects.
Why is it so particular? The answer is pharmacogenetics. It is defined as the study of variability in drug response due to your genetic code. So it argues that despite general sentiments, medications do not have the same effect on people. It is the answer to why some people cannot drink coffee after 6 pm otherwise they cannot sleep; and why others might have some double espresso at 11 pm and sleep as if nothing happened around midnight.
Pharmacogenomics is viewed as a highly important area for improving drug therapy and prescriptions in the future. Whether this promise is fulfilled and to what extent will only become evident with time. However, there are already some promising examples.
With genetic testing against blood clotting
Let’s look at the drug called Warfarin or as also commonly known Coumadin, a blood thinner. It is an anticoagulant that works by decreasing the clotting ability of blood. It’s commonly prescribed to prevent blood clots in people with conditions such as atrial fibrillation, deep vein thrombosis, or pulmonary embolism. However, its dosing is very tricky. If the doctor prescribes too little, blood clots might take shape in spite of the medical efforts. On the other hand, if the doctor prescribes too much, it can cause excess bleeding.
Two genes are known to influence warfarin’s effectiveness. One, called CYP2C9, deactivates warfarin. The other, VKORC1, activates vitamin K, which is essential for blood clotting. Variations in these genes affect how a person responds to warfarin. Thus, dosing formulas have been developed to incorporate a person’s genetic profile, along with their clinical characteristics, to better predict the warfarin dose that person may need. Some are sceptical about genotyping and dosing medications based on it, but some expressly recommend genetic testing before any prescription of e.g. Warfarin takes place.
What does MyDNA offer you?
The myDNA Medication test promises to help you and your doctor personalize your treatment by selecting the most appropriate medications based on how your body metabolizes drugs, and the doses that my work best with you. As a consequence, your physician could improve your health outcomes, reduce the risk of side effects and you could also save significant amount of money by avoiding ineffective medications. It is especially important in case of common diseases and medications, whose variations are widely available on the pharmaceutical market, e.g. antidepressants, antidiabetic medications or pain medications.
Thus, with all the available background information, I was pretty excited about myDNA’s medication test. Usually, you order the test online here for $149, but as I mentioned before, I was lucky enough to be offered a free test. In my Facebook live session about genetic testing, I even unpacked their product live and demonstrated what taking a cheek swab sample for a genetic test is like.
Well, it is not as gross as you imagine, but not as easy either. Sometimes it took me 30 minutes, but let’s not delve into the details now.
Afterwards, I send it back to the lab. Within a few weeks, I receive the notification about the results via e-mail. The company shares your personalised myDNA report then with your nominated healthcare professionals, who will explain your results in a private consultation. It is very useful, as most individuals have no clue whatsoever how to make sense of raw DNA results. You’ll also have access online to myDNA Explore where your results will be stored and new relevant information will be provided as it becomes available. The latter is especially relevant, since the interpretation of your results might change with the advancement of genetic research, so regular updates are crucial.
What did I get to know from my genetic medication test?
It seems I would have side effects and certain major complications when taking a few drugs specified in the report. If I have to take Codeine (an opiate used to treat pain); fluvoxamine (used to treat obsessive-compulsive disorder); or simvastatin (used to lower cholesterol), I will have major side effects from cardiomyopathy to liver problems.
As I don’t take any medications, the company also sent me a report about what it would be like if I took some and how it would have altered the results. You can see on the screenshot below, it would help with interpreting the results and it also provides recommendations about what to do with the treatment.
As a summary, I found the report very useful and if I need to take any medication in the future, I will definitely bring the results to the attention of my physician. I prefer regularly updated online reports instead of a simple PDF, but that’s just my taste.