Stuck on a health decision? Genomics-based precision medicine might hold clues to the answer.
Got questions about optimal health? Some common ones I get:
How can I optimize physical performance?
Which foods will be most supportive for me? (Vegan? Paleo? Keto? Mediterranean? Carnivore? Or something else?)
What do I need to do to heal from my injury the fastest?
Which approach to weight loss is most effective?
Why do I have difficulty sleeping?
What mental health treatment is right for me?
There are a lot of different approaches to managing our health and a lot of emerging evidence in support of each. Sometimes evidence seems to conflict.
There’s one factor that very few medical studies account for: genomics.
What if our individual genetic makeup could explain discrepancies between approaches? Or why some studies aren’t reproducible? Or the variance in the effectiveness of drugs? Or why are some foods inflammatory and aggravating for some but tolerable to others?
Genomics is the study of an organism’s genes as well as its function and regulation. Genetic variants or single nucleotide polymorphisms–SNPs, pronounced “snips”–are common in that they occur in greater than 1% of the population. SNPs affect the efficiency in biochemical pathways and, over time predispose people to disease. These variations are inherited–many of them have been passed down for generations–and are weakly associated with chronic disease.
There’s now an emerging body of evidence that suggests genomics might be the key to understanding a wide range of medical questions, from “which antibiotic is best” to the likelihood of a person contracting COVID-19. There’s also a model that explains how it is that your superfood might be my kryptonite.
Fun facts about genes.
Genes are discrete regions of deoxyribonucleic acid, or DNA, that encodes for function.
We have approximately 6 feet of DNA in each cell and 300 trillion feet of DNA in our bodies. Humans have approximately 20,000 to 25,000 genes. Ribonucleic acid (RNA) is produced by transcription from an accessible portion of DNA.
One form of RNA, messenger RNA (mRNA) makes proteins from amino acids. Just one amino acid change can alter the efficiency of the protein. Proteins are used throughout the body for a wide variety of functions including enzymes, structure, transport, hormone, storage, communication and protection. Both the Moderna and Pfizer vaccines, incidentally, use mRNA to manufacture the spike protein on the coronavirus to train our immune system to fight the virus adequately.
The Human Genome Project, which mapped the genome of 20 people from Buffalo, New York, wrapped in 2003. In 2015, the 1000 Genomes Project Consortium was completed. Genomics is an emerging field and more robust evidence is still needed to draw hard and fast conclusions, and to earn the trust of discerning health care workers.
“I don’t want to know”
Sometimes, when considering genetic factors, I hear, “If I can’t change it, why would I want to know?”.
The good news is that genetic expression isn’t nearly as fixed as we used to believe. I think of genes as the hand of cards you are dealt. Behaviors and environments also referred to as epigenetics or the exposome, are how you choose to play that hand. Genes (our cards) may only account for about 10% of our health and performance; the rest is how we play our cards.
For example, you may have SNPs that make you more likely to have high cholesterol. This doesn’t mean you have high cholesterol if you’re an adult. That will depend upon environmental and behavioral factors up until this point.
Genomics-based precision medicine is the practice of looking at an individual’s genes and how the genes relate to environment and lifestyle. The goals of genomic-based precision medicine is to identify each individual’s SNPs and their interactions within the context of that person’s life. By assessing the impact of multiple SNPs and intervening with lifestyle modifications, we can decrease the risk of chronic disease.
The field is new and rapidly evolving. I won’t be surprised if, in the not too distant future, we’re running genomics data on newborns and arming parents with information on how to optimize their child’s health.
I wish I’d had access to my genetic variants earlier.
Now that I do, I’ve made some small changes.
As it turns out, I have SNPs that make me susceptible to cardiovascular disease if I eat too much saturated fat. So, I made a simple change. I stopped using coconut oil to cook and switched to avocado oil.
I’ve also made some big changes.
A few years ago, I developed sleep challenges after over a decade of working shifts in the ER. This isn’t uncommon for shift workers or people working in a stressful environment like an emergency department. (Shift work correlates strongly with just about every chronic disease.)
Additionally, though, I happen to have several SNPs associated with poor sleep. I have SNPs that make it more likely that caffeine and digestion will interrupt sleep. So, when I cut out caffeine and started eating dinner earlier, these changes had positive–and outsized–impacts on my sleep.
I also have SNPs that make me susceptible to dementia with irregular sleep patterns (e.g., shift work). As with my sleeping SNPs, variants are additive, which means their impacts accumulate.
Also, if you have multiple SNPs involving a particular area or function, for example with me and my sleep, they can be strongly associated with disease. So, not only does eating late affect my sleep, I’m also more likely to develop cancer if I eat after dark and too close to bedtime.
Ultimately, this knowledge helped inform my decision to leave shift work. It wasn’t an easy choice but it quickly became my only choice, when I considered the health tradeoffs.
For newborns, it’s a blank slate regarding how they play their cards. For the rest of us, we’ve already made choices for decades and it may take some time to reverse some of the impacts we inadvertently did, such as with the example of me and my sleeping.
Interested in learning about your SNPs and how to optimize your health based on your genetics? If you’d like to do it on your own, you can run your raw data from 23 and me through Found My Fitness (foundmyfitness.com) and they will give you a printout of relevant SNPs.
The info can be overwhelming. If you’d like help interpreting the data and trying to understand the impacts of specific SNPs, get in touch.