Showing posts with label Genetic Testing. Show all posts
Showing posts with label Genetic Testing. Show all posts

Thursday, July 6, 2017

Dear Kristin

One of my fab readers, who appreciates her privacy, sent me an email yesterday on the topic of my last post. It occurs to me (and this reader told me she would be receptive to a response in post format), that the whole point of having a platform is that it gives an opportunity to pool information and provide potential advice to those of us we may not know personally, but with whom we likely share many common experiences.

Below, I've described the reader's situation - and my response. Of course, I am NOT a medical professional so any sort of medical response would be irresponsible. Moreover, I have (thankfully) limited exposure to the issue at hand. But that doesn't mean I don't have opinions! I sense your feedback would be quite welcome - in the event that any of you has encountered a similar challenge. So on with Kristin's version of an advice column...

The High-Level Scenario:
  • The reader's husband, in his late 50s, recently had a heart attack (one artery with blockages, 3 stents).
  • She describes his pre-heart attack diet as "not SAD (i.e. standard American diet) but not perfect". He's quite active, fyi.
  • He's gone on statins, though that's not his doctor's preferred approach. He is in the process of adapting to a very low-fat, vegetarian diet of the Ornish variety because the doctor's preference would be to lower blood lipid levels by diet vs medication. FYI - the Ornish approach encourages approximately 10% fat...
  • Having said this, the patient will remain on statins for a year, per medical advice, given the specifics of his experience.
  • The reader is particularly concerned that the combo of statins plus a very low fat diet might have eventual cognitive impacts. Dementia does not run in his family.
  • The reader is thoughtfully avoiding inundating her husband with many conflicting pieces of information at a time when he's adapting to a new landscape.
  • The reader is in favour of a more "Primal" diet approach (i.e. the kind of diet I have been eating since January).
  • She's concerned that genetic testing would no longer be useful because the undesired outcome (that one tests genetically to avoid) has already occurred.
Kristin's Take:

For starters, Lovely Reader, I am thrilled that your husband is recovering from his health set-back! This is excellent news and it should be celebrated at length, IMO :-) Secondly, I want to acknowledge that a serious health concern affects both partners in a long-standing relationship. On some meta level, you have had a health crisis too. Your life has been dramatically altered by this unexpected occurrence. You may feel the need to change your own lifestyle to support your husband, even if you wouldn't have otherwise, and that may have impacts you can't predict (or aren't looking forward to). You're already confronting a contradiction between your own views on diet and health and what your husband has been integrating from his health care team. I have confidence that, as this scenario becomes more knowable and "normal", this may be easier to navigate but, in the meanwhile, I think it's important to own your approach to eating while also respecting your husband's path forward. It seems you have a great partnership so that should be doable, if potentially tricky at first.

I imagine that, if I'd just had a heart attack of this magnitude, I'd be pretty fucking afraid. I mean, I'm fearful of far less frightening things! And I'd probably react reflexively at first: I would shout from the rooftops that I would never do X again (or Y). I would probably follow my doctor's advice to the T (additional research having not yet been done, cuz I wouldn't have been expecting a heart attack!) And I think that's a reasonable response when recovering from such an experience.

However, over time, I'd either come to really respect my doctor's advice, or wonder if there are better approaches for me, based on my own personal biochemistry and the many other factors that make me "me". Your husband may come to this conclusion too - or he may be on the road to long-term low-fat living. (Who knows, he may adapt to it fantastically.) That's his choice.

In this instance, I actually think that genetic testing would be really useful. Some people have high blood-lipids but do not possess the gene variant associated with late-onset dementia (APOE4). I don't know to what extent non-APOE4 carriers are susceptible to dementia when put on statins and a long-term low fat diet. There's probably some useful (and even more very sketch) info out there, so no time like the present to find out what exactly is going on with his specific genes - and the nature of the high-cholesterol he might have.

I also don't know to what extent your husband's heart attack was caused by high-cholesterol and I wouldn't in a zillion years hazard a guess. Having said this, I've heard that it's often triglycerides (as much as LDL) that predict heart attacks and there's some evidence out there to suggest that cutting down on processed foods and sugar can lower triglyceride levels precipitously in some individuals. Your husband's doctors may be able to provide all of the answers to his questions - or you may choose to do additional testing of the vaguely "alternative/integrative" variety to come to your own conclusions.

One thing I will say: when people don't eat fat, they eat sugar. And eating sugar under these circumstances may compound the heart challenge in the long run (never mind the impacts of healthy fat). I do believe that fat protects the brain and that evidence supports this. Whether the risk of dementia due to low-fat diet is higher than the likelihood of a future heart attack is a complicated question and determining the answer is likely going to take time and research.

It's possible that statins will be less-often prescribed in the next few years. Moreover, given your husband's doctor's disinclination to prescribe them, it's possible he may not stay on them for long enough to have any impact in the long-run. I wouldn't really worry about them in the short-term but I'd do all the research and consider how my own blood lipid composition relates to the studies that are out there.

No question though, my bias is against the low-fat vegetarian diet. If research and evidence were to definitively support that my own body would be better-off for eating this way, I'd likely bite the bullet. But I don't think the evidence points this way for most people and I would NEVER do it on spec. (Even the pre-"healthy fat/low sugar diet-obsessed" Kristin ate lots of fat, if much of it unhealthy.)  On the basis of my reading - and pointedly, my own experience - I believe that most bodies need healthy fat (maybe not in volumes the likes of which I eat, but probably more than 10 per cent) and they generally benefit from animal protein (a readily bioavailable source for those who may struggle with metabolic syndrome, which is implicated in heart attacks for some).

So I hear your concern about the Ornish diet over time. The thing is, though, that through considered research, that which happens organically, you can work together to determine whether your husband's specific issue would be best ameliorated by the low-fat plan currently suggested by the doctor. I mean, if she's a good doctor, she's likely going to engage with your questions and the information you bring to her. Her perspective may change over time. Follow her advice, by all means, unless you determine that there's another approach that would work better for your husband, given who he is (genetically, biochemically, emotionally, mentally etc.) He's infinitely more than the heart attack he's just experienced, and my advice would be that he should live, very exuberantly, with that in mind. xoxoxo

Readers with life-experience: Please chime in! Feel free to disagree with me (politely, preferably :-)). I'd love for our reader to gain info from those who know the score.

Tuesday, July 4, 2017

Gene Genie

You'd have to be really new to this space to not know that my 40s haven't been smooth sailing on the health front. Add to that my family history, namely triple-negative (non-hormonally receptive) breast cancer, and one doesn't even need my natural propensity for hypchondria to feel somewhat concerned about what may be around the corner.

But here's the thing: Everyone's health is a crap shoot. There are those that have never encountered one medical misery in their lives, who end up being felled by some mystery ailment (or a streetcar) in very short order. I know, not up-beat reading, but it's true. You live only in this moment and, on some level, that is tremendously liberating.

If there's one thing this decade has taught me it's not to count my chickens.

Just yesterday, I was sitting on the (glorious) patio of my (other) neighbourhood local, which we call "crappy place", cuz really, the food is only tolerable for the atmosphere, and I was reminded of how, last summer, my tailbone was a jumble of terrible discomfort. I couldn't sit down for months without feeling such pain - and terrified. What did it mean, I ruminated endlessly (cuz that's what I do)? It pretty well tanked my last-summer, stupidly expensive Canadian vacation. But there I was, yesterday, sitting for hours (the service is one of the things that leads us to call it crappy place), endlessly joyful that my ass was comfy on a metal chair. Half the time, life is just perspective. And the other half the time, I suggest simply waiting it out.

Where is this cheerful post going? Well, on to genetic testing, natch. What's an obsessive-compulsive ruminator to do, if not to poke at the clasp of Pandora's box. (Does that sound dirty??) Of course, this isn't my first kick at that can. I did DNAFit last year. Note: I wouldn't recommend  that platform though I learned a lot. As far as I can tell, the raw data isn't made available which makes it pretty limited information, in the long run.

What I would recommend is 23andme, now that they've got FDA-approval to release personal info on 12 genetic diseases, numerous other traits (fluffy and other), drug interactions, ancestry info and more.

For example, wanna get that pesky BRCA 1/2 gene mutation info out of the way? You can do it seriously affordably with this test. In truth, I wasn't particularly concerned about most of the diseases for which my genetic predisposition was tested. I sense that this test is best marketed, in its current iteration, for those of Ashkenazi Jewish heritage - a population with some serious and unfortunate genetic propensities, at least according to what I've read.

Of course, the kind of breast cancer I have an unknown, statistical likelihood to encounter, is not tested for at this time...

But here's the thing, I can't help but to consider that, if I'd known 20 years ago about my early-onset osteo-arthritic bones - likely turned-on in childhood - I might have been able to forestall some seriously unpleasant outcomes to date. Maybe not. Maybe I would have been young and stupid and unconcerned. But I doubt it. Knowing what I know now has, bizarrely, improved the quality of my life. It's given me a map, a way forward. And for this I am grateful. Sure, I really wish I weren't managing a potentially serious degenerative condition. But really peeps, there are worse ones out there. To understand even a potential source of my pain has made that pain, when it comes, bearable and (somehow) less frightening.

But I didn't spend 200 bucks CDN (on sale!) to learn about the BRCA gene mutation, which I don't have. Oh no, I did it to learn about a potential propensity for muscular disorders (a thing I am legit concerned about), Parkinson's (my father has a tremor-condition which is not Parkinson's but still concerning), and - you guessed it - Alzheimer's and late onset dementia.

This is the point in this post that you should click off if you don't like reading about dementia. Trigger-alert.

I'm that girl who reads everything about cholesterol, the APOE gene and statins. Note: Do your fucking research peeps, before you ever go on a statin drug. Cuz it's possible that your high cholesterol levels, if you have the variant of the APOE gene most associated with Alzheimers (that would be the APOE4), may act as a protective factor. Peeps with the APOE4 variant may have super-high blood lipid levels, as a protective mechanism, because those peeps don't metabolize cholesterol (gold, by the body's standard) particularly well in the brain. Look, I'm no scientist or doctor, but anyone on a statin should be seriously clear about the potential impacts - particularly as new research seems to be showing that they don't do much to prevent death.

At any rate, I'm fascinated by dementia and the genes that predict it, as many of us are. My grandmother, now 96, was sharp as a tack until she went on statins a couple of years ago. Now she's a shell. Sure, it's possible one's going to hit the wall at some point - and mid-90s seems to be as good a time as any - but it was strange how that happened (and how anecdotally causal it seems).

Y'all may know that I am rather attached to my ability to problem-solve and my general cognitive well-being. Who isn't? Really, I was secretly hoping to find I had 2 copies of the APOE2 variant, the one that's so protective that they inject mice with it to cure them of induced-dementia. Note: This double variant may come with its own issue of the cardiac variety. Genes, peeps, they're so fussy.

To break it down, and I won't get too sciency cuz I can't be bothered to go back into the program to re-read all of the stats and I'm not a scientist, as we've established, about 1 per cent of peeps get 2 copies of APOE2 and they have a lifelong likelihood of 0.6 per cent of getting Alzheimers. Woohoo for them! Most of us fall into the APOE3 category (@60%) and this is the default, having 2 copies of that variant. Those with 2 copies are not considered to be at genetic risk for Alzheimers. Then there's some subset of the population (2% of Euro ancestry? can't remember) that has 2 copies of the APOE4. Effectively you can have the following allele options: 2-2, 2-3, 3-3, 3-4, 2-4, 4-4. No question, it's not optimal to have any 4s. But if you're going to have any 4s, it's better to have only one. I'm not going to sugar-coat this, if you have one variant of the 4, your likelihood of getting Alzheimer's is 22-35% by age 85. If you have 2, that stat goes up to 50-68%.

Let's detour for a minute. Let's talk about how, it really doesn't matter what your gene profile says (on some level) because your lifestyle, your epigenetics, are going to have a lot to say about what ends up happening to you as you age. This is why I get up every morning with manufactured confidence that my bones are going to work with me, and not against me, for the next 50-odd years.

Moreover, most people who currently have Alzheimers don't have the 4 allele! Remember, most of the population doesn't carry it. Lifestyle really is key, it would appear, or only those carrying the 3-4 or 4-4 combo would be managing this terrible illness.

Let's also consider - on the topic of dementia specifically - that there has never been so much funding poured into any illness because it's becoming so fucking epidemic that there's no ignoring it. Sure, I suspect that diet is a massive contributing factor - yet another reason why determining one's genetic propensity is useful, because then you can knowingly alter how you eat (if theoretically knowing that the Standard American Diet is going to kill you isn't enough). My point: It's never been a better time to be predisposed to getting dementia, even as there's never a good time. They're going to have some cures within the next 5 years, I predict.

So how did I fare? I'm very grateful to be in the largest cohort for those of Euro ancestry: APOE(3-3). Let's face it, this is your likelihood too, regardless of your heritage. Only 1 per cent of peeps are practically immune and only 2 per cent of peeps are seriously, genetically predisposed. @20% of people, across heritages, have that 3-4 variant, which isn't optimal but isn't as concerning as the 4-4.

You may not want to know. I wondered if I would. I took the test considering that I might never read the results. That lasted all of 5 minutes because, in my domain, knowledge is power. Something's going to kill us all and, IMO, our responsibility as people is to live as well as we can until we can't any longer. Avoiding the facts doesn't change them.

What would I have done had I discovered I was in that potentially unfortunate 2 - 20 per cent? Um, I would have researched the SHIT out it. Frankly, I've been doing that for a couple of years, so I'm pretty sure I would have done what I've more or less done already - got rid of most sugar, grains, bad fats, junk food, cut down on booze a lot and upped the fat content I eat dramatically. I'd prob have gone even more "healthy fat" keto than I've already gone - and I'm pretty far gone (in case you see the glossy quality of everything I eat). Strange how this seems to be the answer to improving numerous conditions, conditions that were nowhere near as prevalent before Big Sugar addicted so many (and made the idea of fat so fear-causing). Yes, I realize I sound like a conspiracy theorist.

If you're predisposed to dementia, it's possible that your brain doesn't metabolize cholesterol optimally. Cholesterol is not evil. It's your mind's fuel and it makes you healthy - cognitively and otherwise. I'm not going to devolve into the small category of people who really need to worry about it; the majority thrive on good fat. Anyone with a mood disorder or epilepsy can corroborate this. I'm also not going to get preachy. Do you research. Make your own choices. Be happy having made them.

So that's today's tale. But I wanna know: Have you done this test (or similar medical genetic testing)? What's your predisposition and how do you feel about it? For those who haven't tested, are you worried? Blase? What do you wish you could be tested for (presuming it's not available currently)? Please, let's talk!

Saturday, September 3, 2016

In Which I Go On (and On) About Genetic Testing

About 6 weeks ago, I finally took the plunge and purchased DNAFit testing to learn more about my genetic predispositions re: fitness and nutrition. It's expensive so I dithered for a while (cost me @$450 CDN and that was right after Brexit). It also took a long time to get the results, longer than it should have, because my kit got lost in the mail and there were potential postal strike issues here (just resolved). Theoretically, one could get results within 3 weeks - from start to finish, maybe even faster if you're in the UK. You order, wait for the kit, take a scrape swab (2 minutes worth of effort), post it back, wait for it to get back to UK and then wait @10 days for the reports). My online results finally arrived 2 days ago. It'll take another week for my fancy dossier to arrive (but I suspect that info will mimic what I can now see online).

For starters, I totally recommend it. The industrial design of the kit alone makes it worthwhile! (OK, joking, but just sort of.) The information I've received is substantive, but I will say that you should plan to invest in the additional (@$175 CDN) post-report consultation* unless, like me, you enjoy doing research. The way results are positioned in the reports is very neutral, for many good reasons. But I want to know what my specific polymorphic variations mean for me, especially when considering how propensity, indicated by one allele combo (from one gene), influences another. So much of predisposition is about how the moving pieces intersect.

I don't need to tell you that I'm no scientist. (Sorry, Scientists, if I'm butchering the concepts!) But I've done as much extra research as one can (in 2 days, with a new job) and I'm amazed by what I've learned independently, now that I have the raw data to work from. Furthermore, my naturopath is also reviewing this info in conjunction with my latest blood tests, hormonal panels and spinal radiology report. Between this and my new yoga rope wall, I've got some tricks up my sleeve!

I'm well aware that this post is the very definition of first-world solipsism but, as I like to say, it's my blog so I'm going there. Furthermore, as the DNAFit people like to say, like on every freakin' page, your genes won't change but your lifestyle can. Genetic propensity is merely an indicator.

The Good Things I Learned

It's always nice to lead on a strong foot so here are some rather meaningful "pros" I discovered:
  • I don't have the gene variation associated with celiac disease. What I mean is that I can happily digest gluten.
  • I do have the gene variation associated with being able to digest lactose. Which I could have told you. Cuz I love me the dairy and it doesn't give me any issues.
  • Middle-agedness aside, I have low "fat sensitivity", which means I'm not genetically predisposed to obesity or to the metabolic syndrome that often accompanies it, particularly if I keep the carbs complex and the saturated fat in check.
  • I strongly skew, fitness-wise, towards endurance (volume) - not power (intensity). Maybe that's why I can walk around for 12 hours a day, covering miles and miles, while I'm on vacation.
  • My profile predicts a tendency towards intermediate VO2 max (aerobic) capacity. Alas, I'm never going to make any use of this one - running ain't happening! - but it's nice to know.
  • I have a genetic predisposition to recover from exercise rather quickly with minimal inflammation. In fact, there's nothing in my profile that shows an increased likelihood of inflammation related to immune response.
 More Complicated Things I Learned
  • I have sodium sensitivity which could lead to hypertension (though I believe, from my own research, that I have other gene variations that protect me from this). Nonetheless, as per the advice from every medical association in the land, I should limit my salt intake to 5.5g a day (whatever this means). This is a real issue because a) I love salt and b) I especially love it when I'm stressed and c) I seem to be stressed much of the time. I don't have a solution for this one yet.
  • I also have alcohol and caffeine sensitivity: I metabolize the booze fast (which can lead to hangovers) and the caffeine slowly (which can be detrimental to bone health - what you'll see, below, is likely my biggest issue). Happily, I very rarely imbibe enough to bring about nausea or nasty post-drinking effects (um, that's just unpleasant) and I only have one double-espresso in the morning. I've known for years that drinking more than one will leave me with shakes for an hour. So my body's got me covered on these accounts. Note: These are examples of how my lifestyle is a protective factor against my genetic predisposition.
  • Apparently, I also have the gene variation which detrimentally affects bone structure and calcium absorption, which is why the caffeine thing is that much more relevant than it would be otherwise. This bone thing comes up in my report, again and again, vis a vis various gene variations and I have to say I'm really surprised by this. Mind you, it predicts arthritis. Apparently, for me, high intake of vitamin D is key (because that's how my calcium absorption will be improved).
  • Alas, and this ain't great either, I show a moderately reduced capacity to neutralize free radicals because I have a deleted version of one of the genes that's instrumental in this process. Given my immediate family history of breast cancer, that's not encouraging. What is encouraging - and this goes back to lifestyle protective factors - is that I can pretty much make up for this by eating extra-high volumes of cruciferous vegetables, like daily. Alas, I HATE a good 90% of cruciferous vegetables because the texture torments me. But, seems my cold-pressed, green juice (with no fruit) habit might be just the thing for this. Furthermore, I'm going to buck up and start eating the tree-like vegetables I loathe. In soup. FYI - I didn't know that arugula is a cruciferous veg. Happily, I eat this in salad all the time because it's one of the few green vegetables that doesn't have the texture of trees!
  • Somewhat to my dismay, but hardly a deal-breaker, I'm one of those peeps who shouldn't eat much grilled or smoked meat because I have a version of the gene that rapidly activates the toxic substances present in meat grilled at high temps. You know, I have until now, eaten bacon multiple times a week. And I'm no stranger to a good steak or chop on the BBQ. That's how my husband cooks. But I've been using lifestyle, yet again, to counteract this for the past few months - just by accident. For whatever reason, I've been off the meat and into the seafood. Or eating the meat raw!
  • I can't say this one is a surprise (given my Latina origins), but I have moderately high carbohydrate sensitivity. This test tells me that I should limit refined carbs to 8% of my daily calories and to get the rest of the carbs I eat from complex, healthful sources. I don't know where the fuck this leaves my standards (potato chips or fries or rice) but I sense it's in the grocery store.** Of course, carb sensitivity isn't a bad thing - half of the ladies in the world live their lives as if they have it - but I feel like such a statistic.
  • Finally, and this is closely entwined with my bone health situation, I have a high propensity towards soft-tissue injury. Between these two things, my pain condition isn't exactly beyond the realm of prediction.
What none of this testing takes into account, as far as I can tell, is my nervous system - the humming-birdlike pace at which my brain and arrhythmic heart are naturally inclined to function. I'm ready to bet that I metabolize absurd amounts vitamin D and omega 3s for this reason alone (though this is totally conjecture). If so, that might predispose me to require even higher daily amounts of these nutrients, than have been recommended by the test, for other genetic-support reasons.

I would LOVE to be able to take a genetic test that predicts things like predisposition to anxiety, phobia and OC response. I'm sure I'd be off the charts but, you know, maybe I'm wrong?! I didn't exactly predict bone health issues and there they are. If anyone knows of a good test that does this, please let me know in the comments. I've become so robot in my 40s :-)

So, did you make it this far?? If yes, I'd love to know if you have done any genetic testing for diet, fitness or other info? What was the most interesting or life-changing thing you learned from the experience. Let's talk!

*FWIW, I have no idea if that consultation is worth it because I haven't undertaken it. I'm just saying that the positioning of information in the reports was too facile for my liking. Then again, I'm one of those in the weeds people. For someone else, the report might check off the boxes.

** The Low Carb diet,  according to DNAFit, is:
 

20% Protein
40% Carbohydrate (15% starchy, 25% fibrous)
40% Fat.


Gotta say, that's entirely feasible - and hardly low carb (though it is light on refined carbs). It's more or less what I do now, except the ratio of my startchy and/or refined carbs to fibrous carbs is skewed in the wrong direction.