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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Good news: midlife health is about more than a waist measurement. Here’s why
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You’re not in your 20s or 30s anymore and you know regular health checks are important. So you go to your GP. During the appointment they measure your waist. They might also check your weight. Looking concerned, they recommend some lifestyle changes.
GPs and health professionals commonly measure waist circumference as a vital sign for health. This is a better indicator than body mass index (BMI) of the amount of intra-abdominal fat. This is the really risky fat around and within the organs that can drive heart disease and metabolic disorders such as type 2 diabetes.
Men are at greatly increased risk of health issues if their waist circumference is greater than 102 centimetres. Women are considered to be at greater risk with a waist circumference of 88 centimetres or more. More than two-thirds of Australian adults have waist measurements that put them at an increased risk of disease. An even better indicator is waist circumference divided by height or waist-to-height ratio.
But we know people (especially women) have a propensity to gain weight around their middle during midlife, which can be very hard to control. Are they doomed to ill health? It turns out that, although such measurements are important, they are not the whole story when it comes to your risk of disease and death.
How much is too much?
Having a waist circumference to height ratio larger than 0.5 is associated with greater risk of chronic disease as well as premature death and this applies in adults of any age. A healthy waist-to-height ratio is between 0.4 to 0.49. A ratio of 0.6 or more places a person at the highest risk of disease.
Some experts recommend waist circumference be routinely measured in patients during health appointments. This can kick off a discussion about their risk of chronic diseases and how they might address this.
Excessive body fat and the associated health problems manifest more strongly during midlife. A range of social, personal and physiological factors come together to make it more difficult to control waist circumference as we age. Metabolism tends to slow down mainly due to decreasing muscle mass because people do less vigorous physical activity, in particular resistance exercise.
For women, hormone levels begin changing in mid-life and this also stimulates increased fat levels particularly around the abdomen. At the same time, this life phase (often involving job responsibilities, parenting and caring for ageing parents) is when elevated stress can lead to increased cortisol which causes fat gain in the abdominal region.
Midlife can also bring poorer sleep patterns. These contribute to fat gain with disruption to the hormones that control appetite.
Finally, your family history and genetics can make you predisposed to gaining more abdominal fat.
Why the waist?
This intra-abdominal or visceral fat is much more metabolically active (it has a greater impact on body organs and systems) than the fat under the skin (subcutaneous fat).
Visceral fat surrounds and infiltrates major organs such as the liver, pancreas and intestines, releasing a variety of chemicals (hormones, inflammatory signals, and fatty acids). These affect inflammation, lipid metabolism, cholesterol levels and insulin resistance, contributing to the development of chronic illnesses.
The issue is particularly evident during menopause. In addition to the direct effects of hormone changes, declining levels of oestrogen change brain function, mood and motivation. These psychological alterations can result in reduced physical activity and increased eating – often of comfort foods high in sugar and fat.
But these outcomes are not inevitable. Diet, exercise and managing mental health can limit visceral fat gains in mid-life. And importantly, the waist circumference (and ratio to height) is just one measure of human health. There are so many other aspects of body composition, exercise and diet. These can have much larger influence on a person’s health.
Muscle matters
The quantity and quality of skeletal muscle (attached to bones to produce movement) a person has makes a big difference to their heart, lung, metabolic, immune, neurological and mental health as well as their physical function.
On current evidence, it is equally or more important for health and longevity to have higher muscle mass and better cardiorespiratory (aerobic) fitness than waist circumference within the healthy range.
So, if a person does have an excessive waist circumference, but they are also sedentary and have less muscle mass and aerobic fitness, then the recommendation would be to focus on an appropriate exercise program. The fitness deficits should be addressed as priority rather than worry about fat loss.
Conversely, a person with low visceral fat levels is not necessarily fit and healthy and may have quite poor aerobic fitness, muscle mass, and strength. The research evidence is that these vital signs of health – how strong a person is, the quality of their diet and how well their heart, circulation and lungs are working – are more predictive of risk of disease and death than how thin or fat a person is.
For example, a 2017 Dutch study followed overweight and obese people for 15 years and found people who were very physically active had no increased heart disease risk than “normal weight” participants.
Getting moving is important advice
Physical activity has many benefits. Exercise can counter a lot of the negative behavioural and physiological changes that are occurring during midlife including for people going through menopause.
And regular exercise reduces the tendency to use food and drink to help manage what can be a quite difficult time in life.
Measuring your waist circumference and monitoring your weight remains important. If the measures exceed the values listed above, then it is certainly a good idea to make some changes. Exercise is effective for fat loss and in particular decreasing visceral fat with greater effectiveness when combined with dietary restriction of energy intake. Importantly, any fat loss program – whether through drugs, diet or surgery – is also a muscle loss program unless resistance exercise is part of the program. Talking about your overall health with a doctor is a great place to start.
Accredited exercise physiologists and accredited practising dietitians are the most appropriate allied health professionals to assess your physical structure, fitness and diet and work with you to get a plan in place to improve your health, fitness and reduce your current and future health risks.
Rob Newton, Professor of Exercise Medicine, Edith Cowan University
This article is republished from The Conversation under a Creative Commons license. Read the original article.
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Radical Remission – by Dr. Kelly Turner
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First, what this is not:an autobiographical account of the “I beat cancer and you can too” pep-talk style.
What it is: a very readable pop-science book based on the author’s own PhD research into radical remission.
She knew that a very small percentage of people experience spontaneous radical remission (or quasi-spontaneous, if the remission is attributed to lifestyle changes, and/or some alternative therapy), but a small percentage of people means a large number worldwide, so she travelled the world studying over 1,000 cases of people with late-stage cancer who had either not gone for conventional anticancer drugs, or had and then stopped, and lived to tell the tale.
While she doesn’t advocate for any particular alternative therapy, she does report on what things came to her attention. She does advocate for some lifestyle changes.
Perhaps the biggest value this book offers is in its promised “9 key factors that can make a real difference”, which are essentially her conclusions from her PhD dissertation.
There isn’t room to talk about them here in a way that wouldn’t be misleading/unhelpful for a paucity of space, so perhaps we’ll do a main feature one of these days.
Bottom line: if you have (or a loved one has) cancer, this is an incredibly sensible book to read. If you don’t, then it’s an interesting and thought-provoking book to read.
Click here to check out Radical Remission, and learn about the factors at hand!
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Lost Connections – by Johann Hari
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Johann Hari had a long journey through (and out of!) depression, and shares his personal findings, including his disappointment with medical options, and a focus on the external factors that lead to depression.
And that’s key to this book—while he acknowledges later in the book that there are physiological factors involved in depression, he wants to look past things we can’t change (like genes accounting for 37% of depression) or things that there may be unwanted side-effects to changing (as in the case of antidepressants, for many people), to things we genuinely can choose.
And no, it’s not a “think yourself happy” book either; rather, it looks at nine key external factorsthat a) influence depression b) can mostly be changed.
If the book has a downside, it’s that the author does tend to extrapolate his own experience a lot more than might be ideal. If SSRIs didn’t help him, they are useless, and also the only kind of antidepressant. If getting into a green space helped him, a Londoner, someone who lives in the countryside will not be depressed in the first place. And so forth. It can also be argued that he cherry-picked data to arrive at some of his pre-decided conclusions. He also misinterprets data sometimes; which is understandable; he is after all a journalist, not a scientist.
Nevertheless, he offers a fresh perspective with a lot of ideas, and whether or not we agree with them all, new ideas tend to be worth reading. And if even one of his nine ideas helps you, that’s a win.
Bottom line: if you’d like to explore the treatment of depression from a direction other than medicalization or psychotherapy, then this is will be a good book for you.
Click here to check out Lost Connections, and reforge yours!
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Science-Based Alternative Pain Relief
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When Painkillers Aren’t Helping, These Things Might
Maybe you want to avoid painkillers, or maybe you’ve already maxed out what you can have, and want more options as an extra help against the pain.
Today we’ll look at some science-backed alternative pain relief methods:
First: when should we try to relieve pain?
There is no such thing as “this pain is not too much”. The correct amount of pain is zero. Maybe your body won’t let you reach zero, but more than that is “too much” already.
You don’t have to be suffering off the scale to deserve relief from pain!
So: if it hurts, then if you can safely get relief from the pain, it’s already wise to do so.
A couple of things we covered previously
CBD and THC are technically drugs, but are generally considered “alternative” pain relief, so we’ll give a quick mention here:
Short version:
- CBD can treat some kinds of treatment-resistant pain well (others, not so much—try it and find out if it works for you)
- THC can offer some people respite not found from other methods—but beware, because there are many health risks to consider.
Acupuncture
Pain relief appears to be its strongest suit:
Pinpointing The Usefulness Of Acupuncture
Cloves
Yes, just like you can get from the supermarket.
In its medicinal uses, it’s most well-known as a toothache remedy, but it has a local analgesic effect wherever you put it (i.e., apply it topically to where the pain is), thanks to its eugenol content:
Boswellia (frankincense)
The resin of the Boswellia serrata tree, this substance has an assortment of medicinal properties, including pain relief, anti-inflammatory effect, and psychoactive (anxiolytic and antidepressant) effects:
Frankincense is psychoactive: new class of antidepressants might be right under our noses
And as for physical pain? Here’s how it faired against the pain of osteoarthritis (and other OA symptoms, but we’re focusing on pain today), for example:
Here’s an example product on Amazon, but feel free to shop around as there are many options, including for example this handy roll-on
Further reading
Intended for chronic pain, but in large part applicable to acute pain also:
Managing Chronic Pain (Realistically!)
Take care!
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How To Clean Your Brain (Glymphatic Health Primer)
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That’s not a typo! The name “glymphatic system” was coined by the Danish neuroscientist Dr. Maiken Nedergaard, and is a nod to its use of glial cells to do a similar job to that of the peripheral lymphatic system—but this time, in the CNS. Today, we have Dr. Jin Sung to tell us more:
Brainwashing (but not like that)
The glymphatic system may sound like a boring job, but so does “sanitation worker” in a city—yet the city would grind to a messy halt very very quickly without them. Same goes for your brain.
Diseases that are prevalent when this doesn’t happen the way it should include Alzheimer’s (beta-amyloid clearance) and Parkinson’s (alpha-synuclein clearance) amongst others.
Things Dr. Sung recommends for optimal glymphatic function include: sleep (7–9 hours), exercise (30–45 minutes daily), hydration (half your bodyweight in pounds, in ounces, so if your body weighs 150 lbs, that means 75 oz of water), good posture (including the use of good ergonomics, e.g. computer monitor at right height, car seat correct, etc), stress reduction (reduces inflammatory cytokines), getting enough omega-3 (the brain needs certain fats to work properly, and this is the one most likely to see a deficit), vagal stimulation (methods include humming, gargling, and gagging—please note we said vagal stimulation; easy to misread at a glance!), LED light therapy, and fasting (intermittent or prolonged).
For more on each of these, including specific tips, enjoy:
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Want to learn more?
You might also like to read:
- Ask Not What Your Lymphatic System Can Do For You…
- The Vagus Nerve (And How You Can Make Use Of It)
- Casting Yourself In A Healthier Light
- Intermittent Fasting: How Does It Work?
Take care!
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Ultra-Processed People – by Dr. Chris van Tulleken
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It probably won’t come as a great surprise to any of our readers that ultra-processed food is—to make a sweeping generalization—not fabulous for the health. So, what does this book offer beyond that?
Perhaps this book’s greatest strength is in showing not just what ultra-processed foods are, but why they are. In principle, food being highly processed should be neither good nor bad by default. Much like GMOs, if a food is modified to be more nutritious, that should be good, right?
Only, that’s mostly not what happens. What happens instead is that food is modified (be it genetically or by ultra-processing) to be cheaper to produce, and thus maximise the profit margin.
The addition of a compound that increases shelf-life but harms the health, increases sales and is a net positive for the manufacturer, for instance. Dr. van Tulleken offers us many, many, examples and explanations of such cost-cutting strategies at our expense.
In terms of qualifications, the author has an MD from Oxford, and also a PhD, but the latter is in molecular virology; not so relevant here. Yet, we are not expected to take an “argument from authority”, and instead, Dr. van Tulleken takes great pains to go through a lot of studies with us—the good, the bad, and the misleading.
If the book has a downside, then this reviewer would say it’s in the format; it’s less a reference book, and more a 384-page polemic. But, that’s a subjective criticism, and for those who like that sort of thing, that is the sort of thing that they like.
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