The Real Benefit Of Genetic Testing
Genetic testing provides information on genetic conditions, predispositions, traits, and pharmacogenomic information, allowing individuals to make informed decisions about their health.
Genetic Testing: Health Benefits & Methods
Genetic testing is an oft-derided American pastime, but there’s a lot more to it than finding out about your ancestry!
Note: because there are relatively few companies offering health-related genetic testing services, and we are talking about the benefits of those services, some of this main feature may seem like an advert.
It’s not; none of those companies are sponsoring us, and if any of them become a sponsor at some point, we’ll make it clear and put it in the clearly-marked sponsor segment.
As ever, our only goal here is to provide science-backed information, to enable you to make your own, well-informed, decisions.
Health genomics & genetic testing
The basic goal of health genomics and genetic testing is to learn:
- What genetic conditions you have
- Clearcut genetic conditions, such as Fragile X syndrome, or Huntington’s disease
- What genetic predispositions you have
- Such as an increased/decreased risk for various kinds of cancer, diabetes, heart conditions, and so forth
- What genetic traits you have
- These may range from “blue eyes” to “superathlete muscle type”
- More specifically, pharmacogenomic information
- For example, “fast caffeine metabolizer” or “clopidogrel (Plavix) non-responder” (i.e., that drug simply will not work for you)
Wait, what’s the difference between health genomics and genetic testing?
- Health genomics is the science of how our genes affect our health.
- Genetic testing can be broadly defined as the means of finding out which genes we have.
A quick snippet…
More specifically, a lot of these services look at which single nucleotide polymorphisms (SNPs, pronounced “snips”) we have. While we share almost all of our DNA with each other (and indeed, with most vertebrates), our polymorphisms are the bits that differ, and are the bits that, genetically speaking, make us different.
So, by looking just at the SNPs, it means we “only” need to look at about 3,000,000 DNA positions, and not our entire genome. For perspective, those 3,000,000 DNA positions make up about 0.1% of our whole genome, so without focusing on SNPs, the task would be 1000x harder.
For example, the kind of information that this sort of testing may give you, includes (to look at some “popular” SNPs):
- rs53576 in the oxytocin receptor influences social behavior and personality
- rs7412 and rs429358 can raise the risk of Alzheimer’s disease by more than 10x
- rs6152 can influence baldness
- rs333 resistance to HIV
- rs1800497 in a dopamine receptor may influence the sense of pleasure
- rs1805007 determines red hair and sensitivity to anesthetics
- rs9939609 triggers obesity and type-2 diabetes
- rs662799 prevents weight gain from high fat diets
- rs12255372 linked to type-2 diabetes and breast cancer
- rs1799971 makes alcohol cravings stronger
- rs17822931 determines earwax, sweating and body odor
- rs1333049 coronary heart disease
- rs1051730 and rs3750344 nicotine dependence
- rs4988235 lactose intolerance
(You can learn about these and more than 100,000 other SNPs at SNPedia.com)
I don’t know what SNPs I have, and am disinclined to look them up one by one!
The first step to knowing, is to get your DNA out of your body and into a genetic testing service. This is usually done by saliva or blood sample. This writer got hers done many years ago by 23andMe and was very happy with that service, but there are plenty of other options.
Healthline did an independent review of the most popular companies, so you might like to check out:
Healthline: Best DNA Testing Kits of 2023
Those companies will give you some basic information, such as “6x higher breast cancer risk” or “3x lower age-related macular degeneration risk” etc.
However, to really get bang-for-buck, what you want to do next is:
- Get your raw genetic data (the companies above should provide it); this will probably look like a big text file full of As, Cs, Gs, and Ts, but it make take another form.
- Upload it to Promethease. When this writer got hers done , the cost was $2; that price has now gone up to a whopping $12.
- You will then get a report that will cross-reference your data with everything known about SNPs, and give a supremely comprehensive, readable-to-the-human-eye, explanation of what it all means for you—from much more specific health risk prognostics, to more trivial things like whether you can roll your tongue or smell decomposed asparagus metabolites in urine.
A note on privacy: anything you upload to Promethease will be anonymized, and/but in doing so, you consent to it going into the grand scientific open-source bank of “things we know about the human genome”, and thus contribute to the overall sample size of genetic data.
In our opinion, it means you’re doing your bit for science, without personal risk. But your opinion may differ, and that’s your decision to make.
Lastly, on the pros and cons of pharmacogenetic testing specifically:
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Stop Cancer 20 Years Ago
Dr. Jenn Simmons shares vital tips on preventing cancer and inflammation, advocating for lifestyle changes and proactive health management at any age.
Get Abreast And Keep Abreast
This is Dr. Jenn Simmons. Her specialization is integrative oncology, as she—then a breast cancer surgeon—got breast cancer, decided the system wasn’t nearly as good from the patients’ side of things as from the doctors’ side, and took to educate herself, and now others, on how things can be better.
What does she want us to know?
Start now
If you have breast cancer, the best time to start adjusting your lifestyle might be 20 years ago, but the second-best time is now. We realize our readers with breast cancer (or a history thereof) probably have indeed started already—all strength to you.
What this means for those of us without breast cancer (or a history therof) is: start now
Even if you don’t have a genetic risk factor, even if there’s no history of it in your family, there’s just no reason not to start now.
Start what, you ask? Taking away its roots. And how?
Inflammation as the root of cancer
To oversimplify: cancer occurs because an accidentally immortal cell replicates and replicates and replicates and takes any nearby resources to keep on going. While science doesn’t know all the details of how this happens, it is a factor of genetic mutation (itself a normal process, without which evolution would be impossible), something which in turn is accelerated by damage to the DNA. The damage to the DNA? That occurs (often as not) as a result of cellular oxidation. Cellular oxidation is far from the only genotoxic thing out there, and a lot of non-food “this thing causes cancer” warnings are usually about other kinds of genotoxicity. But cellular oxidation is a big one, and it’s one that we can fight vigorously with our lifestyle.
Because cellular oxidation and inflammation go hand-in-hand, reducing one tends to reduce the other. That’s why so often you’ll see in our Research Review Monday features, a line that goes something like:
“and now for those things that usually come together: antioxidant, anti-inflammatory, anticancer, and anti-aging”
So, fight inflammation now, and have a reduced risk of a lot of other woes later.
See: How to Prevent (or Reduce) Inflammation
Don’t settle for “normal”
People are told, correctly but not always helpfully, such things as:
- It’s normal to have less energy at your age
- It’s normal to have a weaker immune system at your age
- It’s normal to be at a higher risk of diabetes, heart disease, etc
…and many more. And these things are true! But that doesn’t mean we have to settle for them.
We can be all the way over on the healthy end of the distribution curve. We can do that!
(so can everyone else, given sufficient opportunity and resources, because health is not a zero-sum game)
If we’re going to get a cancer diagnosis, then our 60s are the decade where we’re most likely to get it. Earlier than that and the risk is extant but lower; later than that and technically the risk increases, but we probably got it already in our 60s.
So, if we be younger than 60, then now’s a good time to prepare to hit the ground running when we get there. And if we missed that chance, then again, the second-best time is now:
See: Focusing On Health In Our Sixties
Fast to live
Of course, anything can happen to anyone at any age (alas), but this is about the benefits of living a fasting lifestyle—that is to say, not just fasting for a 4-week health kick or something, but making it one’s “new normal” and just continuing it for life.
This doesn’t mean “never eat”, of course, but it does mean “practice intermittent fasting, if you can”—something that Dr. Simmons strongly advocates.
See: Intermittent Fasting: We Sort The Science From The Hype
While this calls back to the previous “fight inflammation”, it deserves its own mention here as a very specific way of fighting it.
It’s never too late
All of the advices that go before a cancer diagnosis, continue to stand afterwards too. There is no point of “well, I already have cancer, so what’s the harm in…?”
The harm in it after a diagnosis will be the same as the harm before. When it comes to lifestyle, preventing a cancer and preventing it from spreading are very much the same thing, which is also the same as shrinking it. Basically, if it’s anticancer, it’s anticancer, no matter whether it’s before, during, or after.
Dr. Simmons has seen too many patients get a diagnosis, and place their lives squarely in the hands of doctors, when doctors can only do so much.
Instead, Dr. Simmons recommends taking charge of your health as best you are able, today and onwards, no matter what. And that means two things:
- Knowing stuff
- Doing stuff
So it becomes our responsibility (and our lifeline) to educate ourselves, and take action accordingly.
Want to know more?
We recently reviewed her book, and heartily recommend it:
The Smart Woman’s Guide to Breast Cancer – by Dr. Jenn Simmons
Enjoy!