It’s when you first get your genomic test results that you start getting the “aha” moments. Lots of them. Things that have always puzzled you about yourself are suddenly explained when parts of your genome — the collection of genes that describes how you were built — are laid out in front of you.
I took the “Genome Wellness Test” offered by Australian company smartDNA because it’s part of a trend in which biotechnology firms are offering DNA testing services direct to the consumer, rather than just health care institutions. Several companies in the U.S. will now test your genome for everything from your true ethnicity to your susceptibility to disease and sports you might be good at. Tests need to cleared by the U.S. Food and Drug Administration (FDA), which ensures they are clinically validated.
The first “aha” moment came for me with the answer to why I always take longer to recover from hard exercise than most of my equally fit friends. The genomic test results told me I carry a variant of the MCT-1 gene that ensures I have a hard time ridding my muscle cells of lactate.
Wow. Had I known that’s what it was all this time, I might have taken measures to prevent it, such as taking magnesium, which helps cells remove lactate. And I would have reviewed how I train.
Another mystery was solved: my tendency to put on belly fat despite regular weights sessions. My shoulders, back and chest look good but I seem to have a stubborn layer of belly fat. That’s probably because I possess an ancient “thrifty” gene (ADRB2) that predisposes me to belly and visceral fat, together with several other pro-fat genes. But, worse, a variant of the INSIG2 gene means that when I train with heavy weights, I tend to put on fat as well as muscle. The obvious solution is to switch from lifting heavy weights to workouts with more and lighter reps. I wish I’d known this years ago.
On the social front, I’ve always wondered why my friends can drink endless cups of coffee when more than a couple turn me into an agitated wreck who can’t sleep at night. The genomic test reveals that a variant of my CYP1A2 gene codes renders a less-effective version of a coffee-metabolizing enzyme. So if I have no more than two cups of coffee a day from now on, I will sleep better and my risk of hypertension and heart disease will go right down.
GETTING TO KNOW YOU
If you think you know yourself, wait until you look at nature’s instructions for making you. You’ll be surprised at just how much they reveal.
In a genomic test, a DNA profiling company will isolate your genetic code in the laboratory from a swab of saliva. The test won’t tell you about every single gene in your body, since your genome is filled with thousands of genes whose functions aren’t yet known to science. But it identifies those genes and their variants known to be associated with particular traits or diseases.
At this point, it’s worth stressing that your genes are not completely responsible for everything about you, but their influence is significant. When it comes to athletic prowess at least, geneticists believe the genome is responsible for around 70 percent of your success. The rest is determined by environmental factors, ranging from nutrition and training to mindset and your physical environment. In fact, there is an entire field of study devoted to this, called epigenetics, which looks at how external or environmental factors can affect expression of genes, and how this can even be passed on down the generations.
My genome test revealed I carry several genes with variations (or polymorphisms) that raise the risk of specific health problems. To be clear, having genes that predispose you to, say, hypertension, doesn’t mean you have hypertension or that you will get it. But it tells you that you’re more likely to get it than someone without those genetic risk factors.
Genes have a simple job: they tell the body how to build the protein molecules that make cells and keep them functioning and reproducing. But each gene may have hundreds of variations, or mutations, which change the protein being encoded ever so slightly, and that can turn it from benign to harmful. As a human, I have similar genes to everyone else, but many of them vary just enough to make me unique. Genes are described by their universal name, that is, “COMT,” and their unique variant, such as “rs4680.” It’s the variations that matter. They drive evolution — either giving you survival advantages, or consigning you to a dead end of the evolutionary tree, if there’s enough of them.
In my case, a bunch of genes and their variations put me at risk of various medical conditions by giving me the following:
- Sodium sensitivity: A variant of the AGT gene puts me at risk of hypertension if I have too much salt in my diet (apparently 64 percent of Americans have this, so I’m in good company).
• Lactose intolerance: Finally, I understand why I always get a stuffy nose and mild stomach upsets after eating cheese. It’s thanks to a variation in the MCM6 gene, which reduces my ability to digest lactose.
• Weight management: Several genes conspire to make me gain weight, including one that results in a low satiety signal when I eat carbs.
• Poor Vitamin B12 metabolism: Thanks to a version of a gene called FUT2, I’m at risk of lower levels of vitamin B12, a vitamin essential to brain health and even proper functioning of DNA itself.
• Vitamin C deficiency: Vitamin C is a massive pillar of the immune system, but a variant of the SLC213A1 gene means I risk having lower levels of it in my blood, which increases the risk of cancer.
• Poor conversion of sunlight to Vitamin D: Variations in three genes means my body doesn’t convert sunlight into vitamin D very well. Fundamental to immune function and calcium regulation, Vitamin D is the one vitamins you don’t want to be short of, since low levels have been repeatedly linked to increased risk of mortality.
• Poor Vitamin E metabolism: I carry a gene associated with lower levels of vitamin E (in particular, one of its eight compounds alpha-tocopherol). Vitamin E is an essential antioxidant that protects cells from free radicals and boosts the immune system.
Thinking of myself as a walking time bomb, I was reassured by the molecular geneticist who produced the report that I don’t necessarily have the above deficiencies (only a medical test would determine that), but I am predisposed to them. Dr. Margaret Smith, the Scientific Director and co-founder of SmartDNA, pointed out that the purpose of a genome test is to identify these risk areas so you can do something about them.
Dr. Smith said were many things I could do to minimize the risks, and all of them involved modifying my lifestyle, mostly through nutrition and exercise. In essence, we are at the beginning of a new era of personalized health, where the foods you eat, the type and amount of movement you do, your mindset, and the ways you approach other aspects of your life — such as sleep and stress — can counter your genetic weaknesses to avoid illness and disease, and foster your strengths.
“It’s almost like the new frontier isn’t it? It’s personalized health, personalized fitness, personalized nutrition,” Dr. Smith said.
Surprisingly, nutrition provides a simple fix to many of the risk factors.
To counter my predisposition to lower levels of vitamin D, Dr. Smith said I needed to ensure I got regular exposure to the sun and ate cod liver oil, fish, eggs, and mushrooms. As for vitamin E, Dr. Smith said, “I would go nuts on eggs. Like lots and lots and lots of eggs,” adding, “I’d rather people got their vitamin E from dietary sources. If there’s a way to do it from our food, it’s so much better than having to take a lot of supplements. I mean, human beings have evolved with food over a very, very long period of time. We’re something like two million years in the making, metabolically.”
She said minimizing the risk of low levels of vitamin B12 by eating more meat, fish and dairy was also critical, as I exercise a lot. Vitamin B12 plays a key role in reducing oxidative stress in cells after exercise, she said.
“If people go out and do a lot of exercise, then they need to look at their B vitamin intake and make sure it’s not depleted. You don’t want to be going out there, exercising and feeling great, but basically just rusting at a cellular level.”
And lastly, I needed to watch my carbs. “Your brain needs carbohydrates to function, but get them from vegetables,” Dr. Smith said. “Go for low-GI (glycemic index) fruits and vegetables and lots of greens.”
Movement plays a massive part in reducing many genetic risks.
On the weight management side, it obviously helps burn the calories which several pro-fat genes will try to store as fat — but it has all kinds of other beneficial impacts.
For instance, I carry a variation of the APOA1 gene that may reduce my levels of HDL-C cholesterol (the good cholesterol) if I consume too many polyunsaturated fatty acids (PUFAs) such as vegetable oils. Exercise has been shown to increase levels of HDL-C.
A variation of the gene BDNF increases my risk not just of obesity but of depression. Exercise will help release endorphins that help combat the second risk.
With a lousy version of the KIBRA gene, I have higher risk of memory and cognition issues. Again exercise, together with regular sleep patterns and meditation, has been shown to improve brain health and may reduce the risk.
Exercise is also recommended as part of a plan that includes relaxation, to combat the risk from a couple of gene variants (MR rs5522 and COMT rs4680) that raise my risk of vulnerability from stress.
Meanwhile, a variant of the VDR gene means I have increased risk of lower bone-mineral density and vertebral fractures. It means I need to make sure I keep up my levels of vitamin D, and exercise regularly to maintain bone density.
SPORTS GENOMIC TESTING
Genomic testing for sports performance is a growth area in sports science. Although not yet mainstream in the U.S., genomic testing is increasingly used by Olympic athletes around the world and even by English Premier League soccer clubs. It can point to genetic variations that can be used to shape individualized training programs, as well as nutritional plans and supplementation to achieve optimal performance. Further, genomic tests can reveal vulnerability to sports injuries, allowing precautions to be taken.
There is a kind of arms race right now between many sports laboratories to identify the genes that confer sporting supremacy. As far back as 2012, a Russian review of the sports genomics literature, “Sports genomics: Current state of knowledge and future directions,” had already identified 79 genes that were linked to elite athlete status, with at least 20 turning up in multiple studies.
The sports component in the genomic test that I took was not designed to find champions, but it did highlight key indicators known to influence sporting performance.
ENDURANCE OR POWER?
After many years of wondering whether I should have focused on endurance or power events in high school and now, socially, the genomic test gave me the answer: both! The test looked at the VEGFR2, ACTN3, HIF1 and ACE genes to determine this and found I have “a mixed endurance and sprint/power phenotype” that gives me a mix of slow twitch and fast twitch muscle fibers that would allow me to perform well in a wide range of sports. My variant of the ACE gene, in particular, gives me a bunch of advantages for sports requiring sprinting or short bursts of activity.
Yet another favorable gene, eNOS3, encodes an enzyme that results in excellent muscle vasodilation. “All it means is that your arteries and everything expand and you get well-oxygenated,” says Dr. Smith. “You’ll be really good at participating at the throwing, jumping and sprinting types of events.”
And further great news: I have the rs11549465 variant of HIF1 gene, which should give me a better than average maximal oxygen uptake (or VO2 Max). With my other genetic advantages, it should make me one of the first guys you pick on the team (unless I die of cancer first, since HIF1 is also implicated in raised genetic susceptibility to cancers).
It may not make a champion, but my genomic test has at least given me more confidence that I can compete with my friends in social sports events, if I address the lactate issue. And it’s addressed several risk factors that could have had grave consequences, such as my problems with vitamins D and E.
In fact, it’s no exaggeration to say that my genomic test results have changed my life. I’m changing my diet to counter several of the genetic risks present in my genome. I’m switching my training from lifting heavy weights to workouts with lighter and faster reps to lose that last stubborn layer of belly fat. I don’t drink more than two cups of coffee a day, and
I sleep better.
I’m finally more in tune with my blueprint.
SO SHOULD YOU GET YOUR GENOME TESTED?
The fear of data sharing by gene testing companies in previous years contributed to Congress enacting the Genetic Information Nondiscrimination Act (GINA) in 2008 to provide federal protection from genetic discrimination in health insurance and employment.
The direct-to-consumer genomic testing industry also seems to have cleaned up its act after the FDA had to intervene through a congressional inquiry in mid-2010, prompted by several biotechnology companies making unvalidated medical claims for their testing. Now, genomic tests sold to the public need to be FDA-approved and clinically validated.