Genetic Testing

Two years ago I did a genetic test through 23andMe. The test consisted of simply spitting in a few tubes and mailing it off. A few weeks later, I was emailed a link to a full report. I did a post on the ancestry-related genetic reports (what countries/regions my ancestors most likely came from) back in March of 2014. You can read that report here. It was some pretty interesting stuff.

23andmeThe other information that I received from 23andMe was a little harder to interpret. It related to health risk analysis (certain cancers, risk of heart disease, response /reaction to various medications) and physical trait probability. This information is contained in SNPs. Single nucleotide polymorphisms, or frequently called SNPs (pronounced “snips”), are the most common type of genetic variation among people. Each SNP represents a difference in a single DNA building block, called a nucleotide. The report contained thousands of SNPs and unless you have an advanced degree in genetics, they are meaningless. But, there are companies that can take your report full of SNPs and interpret them for you. I used Promethease to do just that.

So I understand that this information is not something that everyone would want to know. These slight alterations (polymorphisms) that each of us have in our genes can effect the likelihood of us getting a disease or being allergic to a certain food. But it’s not set in stone. Just because you are at a higher risk of getting cardiovascular disease than your neighbor, doesn’t mean that it will happen. If knowing that would cause you to be stressed, then maybe it’s better that you don’t know. It’s also important to remember that this is not an exact science.  There are many factors beyond SNP variations that determine your health risks, including behaviors (smoking, alcohol consumption, eating processed foods), nature (radiation or mold exposure), or nurture (your diet as a child).  Some of these non-genetic factors may introduce more risk of a disease or condition than simply having a variation in a certain SNP.  Results are not a guarantee that you will have the illness identified; you are only seeing a probability or risk.  If normal probability of a disease is one in a million, and your risk is 3 times higher, that’s still a pretty small number. For me, I want to know if I’m at a higher risk and if there are certain things that I need to keep a close eye on based on my genetics. While my genes are not something that I can change or even control, I CAN control my behaviors and my surroundings.

23andme medical

So all that being said. Here’s what I found out from my report:

The Good Stuff:

  • I’m very unlikely to go bald (11x lower odds that the average man)- not exactly a shocker for me. I have a full head of very thick hair! Watch out Fabio, I’m coming for you.
  • It’s unlikely that I will suffer from a neurological disorder (such as Alzheimer’s Disease, Dementia, Major Depressive Disorder, Post-traumatic Stress Disorder and Schizophrenia) – This is based on my “enhanced hippocampal volume”. I was hoping this had some correlation to being smarter, but apparently not.
  • I have a lower risk of ADHD as well as alcoholism and smoking addiction risk – I found this interesting, but not surprising. I know that I do not have an addictive personality, but knowing that I can have a drink once in a while without risking dependency is nice to know. Especially since these dependencies have run in my family.
  • I will have a faster recovery from a brain injury – Not really sure how to use this information, maybe I should have been a football player so that the concussions wouldn’t have kept me out of the game!
  • I have a reduced risk of acute coronary events (heart attack, blood clots) – Hopefully this means that I will not be discussing stents or open heart surgeries with my doctor later in life!
  • I have better preforming fast-twitch muscles (good for sprinting and power sports) – Hmmm. This SNP is typically found in professional sprinters, but is less common in endurance athletes. Maybe I missed my athletic calling…or maybe doing Ironman triathlons isn’t something that comes easily for me. Maybe this one should be under the “Bad Stuff” category!
  • I’m able to digest lactose – So this means that I can drink cow milk and eat yogurt? Great…I’ve literally never liked the taste of cow milk and I don’t eat yogurt anyway. I guess it’s good to know that I can eat some cheese on a taco if I want.
  • I have strong bones – This is no shock to me since I have literally never broken a bone. And trust me, some of the things that I did as a kid should have resulted in some fractures! Hopefully I have passed this on to my children.
  • I have “normal” risk of Type 2 Diabetes – So what’s so “good” about this? Considering that Type 2 Diabetes runs in my family, it’s good to know that I do not have an increased risk to develop it. My pancreas secretes a normal amount of insulin. This hopefully means that if I continue to be careful about my carbohydrate and sugar consumption, I will not have to fight diabetes.

23andme topics

The Bad Stuff:

  • I have a higher risk of Cystic Fibrosis (4x higher odds) – This is not necessarily bad news since I do not have any symptoms of CF and it’s very rare that it revs up and is diagnosed in adulthood.
  • I have an increased risk of Prostate and Colorectal Cancer (1.4x higher odds) – The good news is that these cancers can be detected by screening. It’s recommended that those with higher risk start screenings around age 50. So maybe I’ll start the screenings a little earlier just for piece of mind.
  • I’m a mutant – To clarify, I have a gene mutation know as GS192. This means that I have a combination of 2 SNP variations in MTHFR which influence homocysteine levels. This mutation is found in roughly 20% of people, so I don’t think it’s a big deal. The MTHFR gene is repsonsible for making an enzyme that plays a role in processing amino acids (the building blocks of protein). High levels of homocysteine are related to the early development of heart and blood vessel disease. High homocysteine is associated with low levels of vitamin B6 and B12.  So taking a vitamin B supplement (which I do) is probably a good idea. Plus, I have a gene that lowers my risk for coronary events, so maybe it cancels this one out?
  • I’m hypersensitive to the medication used to prevent and treat HIV/AIDS – Hopefully this will never be a concern. If I was to take this drug over an extended period of time, it would likely lead to complications such as liver disease.
  • I have an increased risk of obesity (3x higher odds) – This is probably a shock to most people that know me, but it’s not a surprise to me. This gene produces a higher level of appetite-stimulating hormone (called ghrelin). You’d expect the body to increase ghrelin if a person is under-eating and decrease it if he or she is overeating. But this gene tells my body to produce it even when I’m not under-eating. So now you know that it’s not easy for me to keep  my weight under control. If I don’t think about what and how often I’m eating, bad things will happen. Maybe this is one of the reasons why I think about food literally ALL day!
  • I have a higher risk of alcoholic liver disease, fatty liver and fibrosis (6x high odds) – Alcohol is three times more damaging to my liver than typical in people with this gene . So while I have a decreased risk of being an alcoholic, the stuff does some serious damage to my liver! Having a drink more often than once a month or so is probably not a good idea. Or maybe I should just stay away from the booze altogether!
  • I have a higher risk of Multiple Sclerosis (3x higher odds) – This gene occurs in 15-30% of individuals of Northern European ancestry. This autoimmune disease is nasty. Although I do not have any of the signs or symptoms of this disease, I will be more aware now that I know I have an increased risk.
  • I have an increased risk of Celiac and Crohn’s Diseases (3x higher odds) – I’ve been tested for celiac and I do not have it, but it’s good to know that I have this gene and may pass it on to my children. We try to stay away from gluten as a general rule anyway. As for Crohn’s Disease, it’s typically diagnosed in your 20’s, so I’m crossing my fingers that I would know if I have it.
  • I’ll likely have sexual dysfunction if I take antidepressants (3.6x higher odds) – So it’s a good thing that I have a gene that lowers my risk of depression!
  • I have an increased risk of Psoriasis (2.8x higher odds) – Maybe it’s time I got that scaly, itchy patch of skin on my leg checked out!
  • I’m less likely to live to 100 – well crap, there goes my name being called on the Today Show by Al Roker.

23andme graph

Other Interesting Stuff:

  • I have a gene that means I am better than average at detecting bitter tastes while young, but this ability decreases to less than average during adulthood. So things that tasted way too bitter to me as a child (olives, brussels sprouts, dark chocolate) now taste good. This is true!
  • I have a SNP which may make me less empathetic than most people. When under stress I may have more difficulty recognizing the emotional state of others. So basically I’m a stone-cold assassin!
  • I metabolize caffeine more slowly than most people. So the same amount of caffeine will tend to have a more stimulating effect on on me than most people. This is definitely true – if I drink anything with caffeine in it after lunch time, I cannot sleep at night!
  • I need to use deodorant to avoid smelling bad. I have a gene that makes it more likely that I will have body odor. Shouldn’t this be under the “bad stuff”?
  • I am able to tolerate more pain than most people. This gene means that I have a low pain sensitivity. This would explain how I often have bruises or cuts that I never remember getting. This is not an excuse to punch me in the arm next time you see me!

So I found it fun to go through the results. What I have gone over above is just a small portion of the report. I picked the SNPs that had a higher magnitude, which is their subjective measure of interest. You get a zip file that has the report itself, then there is a data folder that will show you medical conditions, how medicine affects you, and other things studies claim to have found. Each one of the SNP results comes with a link to more information and the studies that “found” these conditions.

For me personally, I think that the amount of information I received was worth every penny of the $199 that I paid to have this test done. Some if it just verified things that I already thought I knew about myself, but it’s good to see it officially!

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