The Real Benefit Of Genetic Testing
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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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Hormones & Health, Beyond The Obvious
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Wholesome Health
This is Dr. Sara Gottfried, who some decades ago got her MD from Harvard and specialized as an OB/GYN at MIT. She’s since then spent the more recent part of her career educating people (mostly: women) about hormonal health, precision, functional, & integrative medicine, and the importance of lifestyle medicine in general.
What does she want us to know?
Beyond “bikini zone health”
Dr. Gottfried urges us to pay attention to our whole health, in context.
“Women’s health” is often thought of as what lies beneath a bikini, and if it’s not in those places, then we can basically treat a woman like a man.
And that’s often not actually true—because hormones affect every living cell in our body, and as a result, while prepubescent girls and postmenopausal women (specifically, those who are not on HRT) may share a few more similarities with boys and men of similar respective ages, for most people at most ages, men and women are by default quite different metabolically—which is what counts for a lot of diseases! And note, that difference is not just “faster” or “slower””, but is often very different in manner also.
That’s why, even in cases where incidence of disease is approximately similar in men and women when other factors are controlled for (age, lifestyle, medical history, etc), the disease course and response to treatment may vary considerable. For a strong example of this, see for example:
- The well-known: Heart Attack: His & Hers ← most people know these differences exist, but it’s always good to brush up on what they actually are
- The less-known: Statins: His & Hers ← most people don’t know these differences exist, and it pays to know, especially if you are a woman or care about one
Nor are brains exempt from his…
The female brain (kinda)
While the notion of an anatomically different brain for men and women has long since been thrown out as unscientific phrenology, and the idea of a genetically different brain is… Well, it’s an unreliable indicator, because technically the cells will have DNA and that DNA will usually (but not always; there are other options) have XX or XY chromosomes, which will usually (but again, not always) match apparent sex (in about 1/2000 cases there’s a mismatch, which is more common than, say, red hair; sometimes people find out about a chromosomal mismatch only later in life when getting a DNA test for some unrelated reason), and in any case, even for most of us, the chromosomal differences don’t count for much outside of antenatal development (telling the default genital materials which genitals to develop into, though this too can get diverted, per many intersex possibilities, which is also a lot more common than people think) or chromosome-specific conditions like colorblindness…
The notion of a hormonally different brain is, in contrast to all of the above, a reliable and easily verifiable thing.
See for example:
Alzheimer’s Sex Differences May Not Be What They Appear
Dr. Gottfried urges us to take the above seriously!
Because, if women get Alzheimer’s much more commonly than men, and the disease progresses much more quickly in women than men, but that’s based on postmenopausal women not on HRT, then that’s saying “Women, without women’s usual hormones, don’t do so well as men with men’s usual hormones”.
She does, by the way, advocate for bioidentical HRT for menopausal women, unless contraindicated for some important reason that your doctor/endocrinologist knows about. See also:
Menopausal HRT: A Tale Of Two Approaches (Bioidentical vs Animal)
The other very relevant hormone
…that Dr. Gottfried wants us to pay attention to is insulin.
Or rather, its scrubbing enzyme, the prosaically-named “insulin-degrading enzyme”, but it doesn’t only scrub insulin. It also scrubs amyloid beta—yes, the same that produces the amyloid beta plaques in the brain associated with Alzheimer’s. And, there’s only so much insulin-degrading enzyme to go around, and if it’s all busy breaking down excess insulin, there’s not enough left to do the other job too, and thus can’t break down amyloid beta.
In other words: to fight neurodegeneration, keep your blood sugars healthy.
This may actually work by multiple mechanisms besides the amyloid hypothesis, by the way:
The Surprising Link Between Type 2 Diabetes & Alzheimer’s
Want more from Dr. Gottfried?
You might like this interview with Dr. Gottfried by Dr. Benson at the IMCJ:
Integrative Medicine: A Clinician’s Journal | Conversations with Sara Gottfried, MD
…in which she discusses some of the things we talked about today, and also about her shift from a pharmaceutical-heavy approach to a predominantly lifestyle medicine approach.
Enjoy!
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Nudge – by Richard Thaler & Cass Sunstein
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How often in life do we make a suboptimal decision that ends up plaguing us for a long time afterwards? Sometimes, a single good or bad decision can even directly change the rest of our life.
So, it really is important that we try to optimize the decisions we do make.
Professors Richard Thaler and Cass Sunstein look at all kinds of decision-making in this book. Their goal, as per the subtitle, is “improving decisions about health, wealth, and happiness”.
For the most part, the book concentrates on “nudges”. Small factors that influence our decisions one way or another.
Most importantly: that some of them are very good reasons to be nudged; others, very bad ones. And they often look similar.
Where this book excels is in highlighting the many ways we make decisions without even thinking about it… or we think about it, but only down a prescribed, foreseen track, to an externally expected conclusion (for example, an insurance company offering three packages, but two of them exist only to direct you to the “correct” choice).
A weakness of the book is that in some aspects it’s a little inconsistent. The authors describe their economic philosophy as “libertarian paternalism”, and as libertarians they’re against mandates, except when as paternalists they’re for them. But, if we take away their labels, this boils down to “some mandates can be good and some can be bad”, which would not be so inconsistent after all.
Bottom line: if you’d like to better understand your own decision-making processes through the eyes of policy-setting economists (especially Sunstein, who worked for the White House Office of Information & Regulatory Affairs) whose job it is to make sure you make the “right” decisions, then this is a very enlightening book.
Click here to check out Nudge and improve your decision-making clarity!
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Dr. Suzanne Steinbaum’s Heart Book – by Dr. Suzanne Steinbaum
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The book is divided into three parts:
- What you should know
- What you should do
- All about you
This is a very useful format, since it lays out all the foundational knowledge, before offering practical advice and “how to” explanations, before finally wrapping up with personalizing things.
The latter is important, because while our basic risk factors can be assembled in a few lines of data (age, sex, race, genes, diet, exercise habits, etc) there’s a lot more to us than that, and oftentimes the data that doesn’t make the cut, makes the difference. Hormones on high on this list; we can say that a person is a 65-year-old woman and make a guess, but that’s all it is: a guess. Very few of us are the “average person” that statistical models represent accurately. And nor are social and psychological factors irrelevant; in fact often they are deciding factors!
So, it’s important to be able to look at ourselves as the whole persons we are, or else we’ll get a heart-healthy protocol that works on paper but actually falls flat in application, because the mathematical model didn’t take into account that lately we have been very stressed about such-and-such a thing, and deeply anxious about so-and-so, and a hopefully short-term respiratory infection has reduced blood oxygen levels, and all these kinds of things need to be taken into account too, for an overall plan to work.
The greatest strength of this book is that it attends to that.
The style of the book is a little like a long sales pitch (when all that’s being sold, by the way, is the ideas the book is offering; she wants you to take her advice with enthusiasm), but there’s plenty of very good information all the way through, making it quite worth the read.
Bottom line: if you’re a woman and/or love at least one woman, then you can benefit from this important book for understanding heart health that’s not the default.
Click here to check out Dr. Suzanne Steinbaum’s Heart Book, and enjoy a heart-healthy life!
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How To Survive A Heart Attack When You’re Alone
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Dr. Alan Mandel emphasizes the importance of staying calm and following these steps to improve survival chances:
Simple is best
Here’s how you will survive a heart attack alone: briefly.
So, you will need to get help as quickly as possible. 90% of people who make it to a hospital alive, go on to survive their heart attack, so that’s your top priority.
Call emergency services as soon as you suspect you are having a heart attack. Stay on the line, and stay calm.
While having a heart attack is not an experience that’s very conducive to relaxation, heightened emotions will exacerbate things, so focus on breathing calmly. One of the commonly reported symptoms of heart attack that doesn’t often make it to official lists is “a strong sense of impending doom”, and that is actually helpful as it helps separate it from “is this indigestion?” or such, but once you have acknowledged “yes, this is probably a heart attack”, you need to put those feelings aside for later.
If you have aspirin available, Dr. Mandel says that the time to take it is once you have called an ambulance. However, if aspirin is not readily available, do not exert yourself trying to find some; indeed, don’t move more than necessary.
Do not drive yourself to hospital; it will increase the risk of fainting, and you may crash.
While you are waiting, your main job is to remain calm; he recommends deep breathing, and lying with knees elevated or feet on a chair; this latter is to minimize the strain on your heart.
For more on all this, plus the key symptoms and risk factors, enjoy:
Click Here If The Embedded Video Doesn’t Load Automatically!
Want to learn more?
You might also like to read:
Heart Attack: His & Hers (Be Prepared!)
Take care!
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Guinness Is Good For You*
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Guinness Is Good For You*
*This is our myth-buster edition, so maybe best not take that at face value!
To this day, writing the words “Guinness is” into Google will autocomplete to “Guinness is good for you”. The ad campaign proclaiming such launched about a hundred years ago, and was based on Guinness as it was when it was launched another hundred years before that.
Needless to say, none of this was based on modern science.
Is there any grain of truth?
Perhaps its strongest health claim, in terms of what stands up to modern scrutiny, is that it does contain some B vitamins. Famously (as it was once given to pregnant women in Ireland on the strength of such) it contains folate (also known as Vitamin B9). How much?
A 15oz glass of Guinness contains 12.8µg of folate, which is 3.2% of the RDA. In other words, you could get all the folate your body needs by drinking just 32 glasses of Guinness per day.
With that in mind, you might want to get the non-alcoholic version!
“I heard you could live on just Guinness and oranges, because it contains everything but vitamin C?”
The real question is: how long could you live? Otherwise, a facetious answer here could be akin to the “fun fact” that you can drink lava… once.
Guinness is missing many essential amino acids and fatty acids, several vitamins, and many minerals. Exactly what it’s missing may vary slightly from region to region, as while the broad recipe is the same, some processes add or remove some extra micronutrients.
As to what you’d die of first, for obvious reasons there have been no studies done on this, but our money would be on liver failure.
It would also wreak absolute havoc with your kidneys, but kidneys are tricky beasts—you can be down to 10% functionality and unaware that anything’s wrong yet. So we think liver failure would get you first.
(Need that 0.0% alcohol Guinness link again? Here it is)
Fun fact: Top contender in the category of “whole food” is actually seaweed (make sure you don’t get too much iodine, though)!
Or, should we say, top natural contender. Because foods that have been designed by humans to contain everything we need and more for optimized health, such as Huel, do exactly what they say on the tin.
And in case you’re curious…
Read: what bare minimum nutrients do you really need, to survive?
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In Praise Of Walking – by Dr. Shane O’Mara
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At 10almonds we talk often of the health benefits of walking, so what’s new here?
As the subtitle suggests: a new scientific exploration!
Dr. Shane O’Mara is a professor of experimental brain research—and a keen walker. Combining his profession and his passion, he offers us a uniquely well-grounded perspective.
While the writing style is very readable, there’s a lot of science referenced here, with many studies cited. We love that!
We begin our journey by learning what we have in common with sea squirts, and what we have different from all other apes. What we can learn from other humans, from toddlers to supercentenarians.
As one might expect from a professor of experimental brain research, we learn a lot more about what walking does for our brain, than for the rest of our body. We’ve previously talked about walking and cardiovascular health, and brown adipose tissue, and benefits to the immune system, but this book remains steadfastly focused on the brain.
Which just goes to show, what a lot there is to say for the science-based benefits to our brain health, both neurologically and psychologically!
One of the things at which Dr. O’Mara excels that this reviewer hasn’t seen someone do so well before, is neatly tie together the appropriate “why” and “how” to each “what” of the brain-benefits of walking. Not just that walking boosts mood or creativity or problem-solving, say, but why and how it does so.
Often, understanding that can be the difference between being motivated to actually do it or not!
Bottom line: if there’s a book that’ll get you lacing up your walking shoes, this’ll be the one.
Click here to check out “In Praise of Walking” on Amazon, and start reaping the benefits!
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