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    "text": " Now, I do have some written things up here but these two speakers are two of the best that we've had and I feel if I would give them an introduction it would be an insult. So here today, uh, speaking on how your doctor might be trying to kill you and how personal genomics can save your life, ladies and gentlemen, Jen and Darren. Thanks a lot. Alright, so indeed, how your doctor might be trying to kill you and how personal genomics can save your life. So, just real quick, the idea here is that personal medicine, the drive to own your health a little bit more and working with your doctor is a big deal. You know, it's a half hour talk, we just want to provide a couple of anecdotes to kind of drive that point home a little bit. And along the way also, maybe give you some ideas and some information related to genomics and how you can help yourself down that path. So, the obligatory disclaimer, we're not doctors and we are not working for our company right now, so. And I'm going to hand it over to Mike, or to Mike, I'm going to hand the mic over to Jen. Thank you. So, before we really get into some of the details, there are some basics that we should go over, just some terminology. Genome sequencing, when you see commercials like 23andMe, they're sequencing parts of your DNA. That's how you get information about your genome. Something that they will give you is called SNPs, single nucleotide polymorphisms. The way to remember this is just, is where you vary from what is considered normal. So, your SNP might be that you have a variant that is defective or just not normal. And then you have personalized medicine, or precision medicine. This is tailoring your medical prescription based on your DNA, based on your genetic code. And then there's gene expression. Just because you have some malfunction or some DNA variance does not mean it will actually be expressed. There's turning on of genes and turning off of genes. Just because you have something doesn't mean it will actually express or show. And then we have epigenetics. Your environment, things that you consume, alcohol, tobacco, can also affect you at a DNA level. It's very important to know because if you're going to explore your own genome, you'll want to be very familiar that just because it says you have something that might be defective does not mean you actually have it. So, I want to share with you an experience that I've had with my personal genome and how it's affected my life. About ten years ago, one day, I developed a very severe headache. So severe, in fact, that when I went to bed, I was hoping and praying, please let me wake up in the morning. Now, here's a tip. If you're going to bed praying that you wake up in the morning, you should probably be going to the hospital. But I just want to shake it off. I got this. And I tried to go to sleep until about five in the morning. It was very clear I needed medical attention immediately. So, rushed to the emergency room. I got there. I'm in such excruciating pain, I can't even answer my doctor's questions. I can't even communicate with my doctor. So, they give me a really, really good sedative, gave me a good dose of Dilaudid, put me in an MRI, and took some pretty pictures. Here are two of them. This is my brain. And as I come out of the MRI, feeling really good on Dilaudid, my doctor tells me, you have a two-inch blood clot in your brain. If you did not get here by now, you would be dead. So, I wonder, how did this happen? As did my doctor, being of a somewhat young age, developing a blood clot that large in your brain is not exactly normal. So, he does some basic genetic testing on me, takes about 15 vials of blood, and comes back and tells me that, you know those commercials where they tell you about medicine and it's about two seconds worth telling you what the medicine does and the rest of the time it's telling you how it could kill you, how you shouldn't take it with certain defects or certain, with alcohol or breathing oxygen. There's a reason for that. This is a typical medical disclaimer regarding birth control pills. And there's a lot here, but what's hidden in there, you should not take birth controls if you have a hereditary or acquired predisposition for blood clots. Well, how do you even know if you do? If you haven't had your genetic testing done, you have no idea. So, you might be taking medicine or pills or even vitamins that could actually be hurting you when you're not knowing it. So, this is exactly what I had. I had been taking birth control pills and I had a hereditary or acquired predisposition. My doctor comes to me and says, congratulations, your homozygous C677T for MTHFR genetic mutation. What? What is that? So, he tries to explain to me that it's something that a lot of people have and that there is this pathway here. I'm not going to go into the details. This, everyone has, and this is responsible for many things. When this works properly, it is responsible for making DNA, maintaining your DNA, repairing your DNA, regulating gene expression, that's the turning on and off of genes, regulating hormone function, regulating histamine levels. It's responsible for a lot of really important things in your life. So, when this isn't working, what could go wrong? Well, apparently a lot. And this isn't even everything. If you have these mutations and if you do not have the proper balance in that pathway, you could be under-methylating, not producing enough, or over, and that's too much. So, there's no balance there. You could have any one of these things, including blood clots, which is, lucky for me, what I had. So, I had some questions, and this is actually what my pathway looks like. And in medical terms, this is called severely jacked up. This is not good. So, I do what I refer to as under-methylating. I don't do that properly. And so, my doctor says, here's what you've got to do. Can't smoke. Don't take birth control pills. And, you know what? You're of child-bearing age. Take some folic acid. Take some multivitamins, just as general advice the doctors give, and sends me on my way. Fortunately, I don't follow directions very well, and I hate taking pills, so I didn't listen to him. I did not take folic acid. I did not take multivitamins. And it's a good thing, because actually, he did not mean to kill me with this advice. I'm sure he didn't. I like to think he didn't. I think I paid my bills on time. But, what he was prescribing for me could potentially have killed me or put me back in the hospital. Because folic acid and multivitamins, in some forms, is actually poison to me. So, good thing I didn't listen. I had to have some dental work done. I went to the dentist, and Mr. Dentist says, hey, would you like some nitrous oxide for this? It will make you feel mellow, make it a little easier for the procedure. Sure. Give me some nitrous oxide. I want to feel mellow. I want to enjoy this procedure instead of being in pain. So, everything goes fine. Nothing happened. It was great, which is very fortunate, because there are many, many, many documented cases. People who did not know that they had some genetic defects that are contraindicative with nitrous oxide. And they did not leave the dentist office alive. So, fortunately, for me, I was fine. I had a friend who happens to have the same genetic mutation as I do. And I told her, I just went to the dentist. Fortunately for me, she was a lot more well-educated in our genetic mutation than I was at the time. And she told me, you need to research this. You need to really find out, because your doctor is giving you information that really is not helpful for you. And there's more that you need to learn. So, it's clear I needed to learn more about my DNA. What is that process like? So, this is where I jump in. So, I want to do the same thing. So, I'm like probably a zillion other people, probably a lot of other folks in this room. I wanted to check out one of these commercial, you know, companies and get my stuff looked at, see what I could find out. And, you know, I'm sure a lot of people have this kind of reasoning behind it as well. You can imagine folks that maybe are adopted or maybe think they're adopted or whatever. I have, my father's been out of the picture since I was like four. I know nothing about his family. So, I thought, you know, aside from all of the other sort of interesting things, maybe there's gaps there, there's interesting things there that might be medical-related kind of things that I might be able to discover and help fill that gap a little bit. So, I went and had it done. Oh, and let me mention too, and maybe some of you guys are the same way. Also, the ancestry side, I was kind of like, you know, it'd be very cool if I had some sort of hidden lineage, right? And, you know, I'm part like Cherokee or, you know, I have like East African descent or something crazy like that, right? So, I get all this done and I had that there as well. And so, one of the things, just so you know, and that's why I have the picture that came out of this, is that I'm really, really Caucasian. And it's... I was disappointingly Caucasian. I'm like translucent. I'm not entirely sure that you can get any more, you know, white European than that and I was truly disappointed. But the point I'm trying to make here is that you get all the information from there and it's a pretty good set of information. And oftentimes, you'll find a little tweak here, a little thing there that you're like, oh, you might have this thing or you might be carrying this thing or, you know, there's all the ancestry bits. But it is very consumer based, right? It's very high level. You can, in some cases, dig into things and I very much recommend that. But also, there's other places you can take that data. And that's the purpose here. If you look at the stuff above the line here, that's stuff from 23andMe. So, that's just a snippet of some of my information. Super high level, right? It's a, hey, variant not detected. You know, these items. Real easy to read, real easy to consume. I get that understanding. Nice. Side note, you can download all of the SNP data, the raw SNP data. And that's where, then you can take that raw SNP data and you can go and plug it into other places. This one down here is Code... Code... Code... Who knows? Codegent. So, this one down here is just an example of some of the stuff from Codegent. And it gives you an idea, right? So, the, uh, the point here is, is, uh, you see that increased risk of type 2 diabetes? That was nowhere in my, in my 23andMe one. So, different system, different analysis. You get some, some, fill in some gaps. It's kind of cool. Another thing you might notice with the search, look at the search bar. That's searching your SNPs for references to all kinds of things. Uh, chemicals, drugs, diseases, uh, and obviously the, the genes themselves. So, if you have a specific interest, hey, am, am I, is there issues with me drinking alcohol? Am I, am I predisposed to being an alcoholic? That might be a, a, an easy way to dig into it. Um, again, the point here is there are some simple places, simple ways you can get to, um, more data. You can fill your data up. You, I mean, you can, you can fill those gaps a little bit. And the nice thing about this one as well, you can dig in a little bit more deeply. You can drill in. Um, and there's, there's many, many more. Some of them are free. Some of them are not free. Um, so what, next, what's the moral of the story? Moral of the story is information is power, right? We all want, we want more information. Uh, the more information you have, the stronger you can be. But... Not just that, if you know your genetic code, if you know your predispositions, if I had known mine, perhaps I never would have taken those birth control pills and I wouldn't have ended up in the hospital. So if you know ahead of time, you're armed. Information is power. It's also not all, not all information is power. Um, me being the hacker mentality that I have, um, well my doctor doesn't really know what I need. I know my genetic code now, mostly. I'm gonna, I'm gonna fix this. So I go on the internet and I look at other people who've contributed information. This is what you need to do, this is how you get from under-methylating, like I am, to a normal state. So I can repair my DNA, I can do all of those good things. Well, it didn't work out so well for me there either. Um, I took all the right form of vitamins and, um, one day I'm taking these vitamins and I hit the floor. I pass out. Um, me not learning very quickly, I do it again the next day, I pass out. Clearly I need to stop taking these vitamins. I do and everything's fine. But what happened is I, I, I changed the balance. I under-methylated and then I over-methylated and it was just as bad. And in fact it was, it was very dangerous. So don't read everything, don't believe everything you read on the internet. Not because it's wrong, because it might be wrong for you. You need... Wait, what did I say? Did you just say don't believe everything you read on the internet? And so what's important to take here is, yeah, you need to be a steward of your own, your own health. You need to be educated. You need to be knowledgeable. But you also need to enlist the help of a really good doctor. One that is interested in helping you based on you. Not just what is normal. Um, they're really good at treating sick. They're not so good at treating you specifically. But you need to help them. And if you do that, you can, um, you can come to a much better place. I'll also make the point that the title of the slide is how, or the other of the talk is how your doctors are trying to kill you. Certainly hyperbole, the idea there is that you need to, uh, be the steward of your own, your own health. Uh, doctors are there to, to do that as well. Some doctors aren't, aren't hip to folks trying to help them out. And you know, maybe that, and if that's what you're looking for, then you need to find another doctor. A couple of, we want to touch on a couple of other things. Um, risk. Man, there are tons of risk, right? And, and I think that, that this, this set of things here could be a three hour panel discussion easily, right? Um, all of the ethical, uh, concerns, all of the security risk. Here's the thing. I, I, this company generated SNP data for me. They have it. I have it, which is nice. At least I have control of what I have. What control do they have? What are they going to do with it over time? Who do they share it with? What happens when they get bought by another company? What happens when the country that they're, that they're incorporated in gets, uh, has a military coup and is now a fascist company or, you know, our country, you know, all of these questions are, are significant questions and you have to ask yourself what you're comfortable with. You also have to ask yourself, you know, what's the risk versus reward? Is this something, um, these are difficult things, I think. Um, I don't, and we're not going to answer those things up here, but just to say that we recognize that they're there. Oh, this is some of those, this is another risk of some sort, right? Uh, oh, that's not my brother. Or, oh, this guy, uh, you know, and what, what, how many, what's, where did these come from? Sorry, this is from the 23andMe forums. This is just from one month alone. People saying, wow, I have a half sister I didn't know about. That's not my dad. And I thought it was. I think you have... Yeah, yeah. So I have a friend who's a woman, she's, uh, in her seventies. Um, and she went and had, uh, this done with ancestry and turns out her father was not her father. And I thought to myself, that's a fantastic, that's an incredible thing to learn after, at, at 70. I mean, that's 70 years of this is who I am and now that's not who I was. That's crazy. And, you know, both of her parents have passed away and her, her father, who she never knew was her father, has also passed away. So there's no, like, there's not much to do there, but man, what a, what a fantastic and crazy thing to have happened. So, uh, we'll just leave you with some resources. And there are several, um, places that you can take that data and do more with that data. Um, Live Wellow is an interesting one. That's the one with, oh, NutriHacker. No, NutriHacker is the one that, uh, wait, which one is Live Wellow? The one that like will guide you through NutriHacker will guide you through, uh, based on your, uh, genetic data will guide you through like life decisions and, and, uh, uh, yeah, food, food choices and drug choices and those kinds of things and give you some guidance based purely on your, on your DNA, which, you know, keep in mind that's, that's basing a lot on maybe a little, so, you know, use some, use some common sense. Oh, and then there's even some more deep stuff here. It's a little deeper. Yeah, so the, the previous slide would show you how to, to get some pretty reports and really look at things from a higher level, easy to read. Um, this is if you want to dig deeper, you can do so much with this set of resources and this is not comprehensive by any means, but this can allow you to really dig into the exact research that, um, that is involved with each of the SNPs or in each of your variations. You can spend months just looking at probably one variation in your genome. Um, but this is a really good place to start. Again, not comprehensive, but, um, I encourage you guys to go out and, and learn about yourself. Yeah. So I don't know that we're the type that we can answer any questions, but there isn't. Thank you. Yes. I'm just curious what the process is for these companies. Um, what, what sort of, uh, generic material do you send them for testing and is it possible to do it anonymously? Oh, anonymously is a good question. Oh, she, she must know something. Yeah. So most of them are, are, are basically a spit culture of some sort and they send you all this stuff. They make it super easy and you got to generate some level and you got to spin into the same. I think it, you know, it feels like a court of spit, but it's really, uh, not that much. What were we going to say about the anonymous? Oh yeah. So when I went into this being a, you know, cyber security professional, I have concerns about my privacy tied to my, my genetic DNA. Uh, I registered as anonymous, but one of the risks is how anonymous is anonymous. And not only that, but to get the rich information, how much do you have to disclose that you're, you're avoiding that anonymity? But there are ways to do it anonymously. Um, you could just build your own lab. I'm sure we're not that far away from that. I'm hoping. Uh, it is quite expensive now, but everything gets cheaper and cheaper. So, um, yeah. Yes. Yeah. Yeah. That does sound like a talk. If you do that talk, I want to be there for that. Yeah. Um, I want to know how, uh, how prevalent are SNPs, single nucleotide polymorphisms, and also, uh, how much, uh, almost like what's the breadth, how much research is done on each variation, each occurrence, and what's the odds of what you have actually being something significant? To answer that, I want to go with how companies like 23andMe, um, sequence your, your genetic code. They don't take, they don't see everything about you. There are certain common variations that they test for, and they, they compare it to your DNA. And what, that's where the SNPs come in. So, they're common. Uh, they're very common. Whether they're expressed or turned on or off is, is another, uh, debate, but they're very common. Um, in fact, the, the, what I said, I have the MTHFR homozygous C677D. Uh, about a third of you probably are the same. It's, it's pretty common. Yeah, and I'll, and I'll say some of them are, you know, saying you have a mutation or a variant, sometimes, you know, that can sound like something. Not only is there the issue of expression and epigenetics, but there's also just the fact that sometimes it's just for something goofy. Like, I can smell, uh, uh, asparagus in people's pee. So, uh, you know, it's, it's nothing, nothing to be, like, to fret over necessarily. Veritas Genetics will do your entire, uh, genome now for a thousand U.S. It's coming down. Are you thinking of doing that? Ooh. I am. Yeah? Definitely. Plus, plus they're doing a lot. That's another interesting thing about these companies too. Now they have this amazing data set, right? Um, and they're, they're now doing correlations where they would have never known there was a correlation before. And it's, and it's, and it's good. And some of it's goofy, but the, but the, the proof of concept is there and they're fine. And they're, they're starting to get to the point where they can say based on previous data that we've seen, we know that you have a 80% chance of, you know, something goofy, cleft chin or something. Last question. Um, so great talk. Thanks very much for sharing your personal stories. And one of the challenges of genetics is even if you do all of that, you'll potentially not anonymous because we can find you. It's maybe five to 10 other factors and we'll identify you. So the law currently says from a medical standpoint in this country, you cannot be prevented from accessing preexisting condition. The challenge is that that's not true from insurance and you can be declined insurance as a result of it, which makes what you've done essentially a risk. Absolutely. Um, I've been fully sequenced. I've had a full genome sequence. I've had 23 and me, um, as part of an exploration. And one of the challenges I find with that is that there's a real disconnect with the data and the reality of exploring it. Certainly when it got faxed to my general practitioner as a printed report, which was just preposterous to me. Um, I, I'm just curious to know what you think about the impact that that's had on you or has it, has that changed anything from your world in terms of... So I haven't, I haven't experienced any explicit impact, uh, related to like, uh, insurance coverage and any of those kinds of things. But that's an interesting question, right? That's one of the risks that we may have. It's one of the things I don't know that we've solved. I think some people think it's solved. I don't think it's really solved for sure. I, I'm one of the guys, um, that is more willing to be, I'm more willing to give up more of my privacy to get more stuff out of, out of life. Um, I know that's contrary to this, this whole crowd, but I'm, I'm, I'm kind of like, I'm kind of like Joe U.S. I'm, I'm, I'm, I'm, I'm a guy that's gonna tell me some stuff and, and let's see what happens. Security through obscurity, right? Um, and I think a lot of people are that way, but, and I think that at the end of the day, there's some serious risk there. I, I don't know if that answered your question. I haven't run into anything. I think that's a fair comment. And ultimately, I think we all give up our privacy at the point that we have a catastrophic illness or a condition because at that point, who cares? I need all So, I think it's not an unreasonable, and I don't want anybody to stab me in this circumstance. But at some point, you've got to give up something to get all of that. And, you know, it's finding the balance. Agreed. Nice. Okay, I think that's it, folks. Thank you guys very much."
}