Well, 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, 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 personal genomics can save your life. So, thank you.
Thank you. So, I'm going to hand it over 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 23 and
24, you know, I'm going to say that 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 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 be a geneticist, you're going to have 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 that I was going to die. I was hoping that I was going to die. I was hoping that
if I wasn't reagting to the message, I might damage my lymphed 울ty οι групп,
thoseшаяş trap Disease Processing Again. Now, I heard some Umphs and jumping in 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 get there. I'm in
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, give me a good dose of Dilaudid,
put me in an MRI, and took some pretty pictures. Here are two of them. And 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 is 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 MTHL-1, and you have a predisposition.
And I'm like, what? 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 got to do.
Can't smoke.
Don't take birth control pills.
And you know what?
You're of childbearing 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.
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 contraindicated 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.
She had 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 her 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 was 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 genome companies and get my stuff looked
at, see what I could find out.
And 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.
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 would be very cool if I had some sort of hidden
lineage, right?
And, you know, I'm part, like, Cherokee.
Right?
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 this way I have the picture, is that came
out of this is that I'm really, really Caucasian.
And it's, disappointingly, 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 CodeGen.
CodeGen.
CodeGen.
Who knows?
CodeGen.
CodeGen.
So this one down here is just an example of some of the stuff from CodeGen.
And it gives you an idea, right?
So the point here is, you see that increased risk of type 2 diabetes?
That was nowhere in my 23andMe one.
So different system.
Different analysis.
You get 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.
Chemicals, drugs, diseases, and obviously the genes themselves.
So if you have a specific interest, hey, am I, is there issues with me drinking alcohol?
Am I predisposed to being an alcoholic?
That might be an easy way to dig into it.
Again, the point here is there are some.
Some simple places.
Simple ways you can get to more data.
You can fill your data up.
I mean, 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.
And there's many, many more.
Some of them are free.
Some of them are not free.
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.
The more information you have, the stronger you can be.
But.
So.
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.
Me being the hacker mentality that I have.
Well, my doctor doesn't really know what I need.
I know my genetic code now.
Mostly.
I'm going to.
I'm going to fix this.
So I go on the internet.
And I look at my genetic code.
And I look at other people who have 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.
I took all the right form of vitamins.
And one day I'm taking these vitamins.
And I hit the floor.
I pass out.
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 is fine.
But what happened is.
I changed the balance.
I under-methylated.
And then I over-methylated.
And it was just as bad.
In fact, 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?
No.
No.
Believe everything you read on the internet.
It's all true.
Okay.
Cool.
And so what's important to take here is, yeah, you need to be a steward of 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.
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 come to a much better place.
I'll also make the point that the title of the talk is how your doctors are trying to
kill you.
Certainly hyperbole.
The idea there is that you need to be the steward of your own health.
Doctors are there to do that as well.
Some doctors aren't hip to folks trying to help them out.
And maybe that.
And if that's what you're looking for.
Then you need to find a doctor.
You need to find another doctor.
We want to touch on a couple of other things.
Risk.
Man, there are tons of risks.
And I think that this set of things here could be a three-hour panel discussion easily.
All of the ethical concerns.
All of the security risks.
Here's the thing.
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 incorporated in has a military coup and is
now a fascist country?
All of these questions are significant questions.
And you have to ask yourself what you're comfortable with.
You also have to ask yourself what's the risk versus reward?
Is this going to help me over time?
These are difficult things, I think.
And we're not going to answer those things up here, just to say that we recognize that
they're there.
Is there anything you want to get off this line?
Oh, this is another risk of some sort, right?
Oh, that's not my brother.
Or oh, this guy.
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 in her 70s.
And she went and had this done with Ancestry.
And turns out, her father was not her father.
And I thought to myself, that's an incredible thing to learn 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 both of her parents have passed away.
And her father, who she never knew was her father, has also passed away.
So there's not much to do there.
But man, what a fantastic and crazy thing to have happened.
So we'll just leave you with some resources.
Again, there are several places that you can take that data and do more with that data.
Live Wello is an interesting one.
That's the one with, oh, NutriHacker.
No, NutriHacker is the one that, wait, which one?
Is it Live Wello?
The one that, like, will guide you through...
NutriHacker.
NutriHacker.
Will guide you through, based on your genetic data, will guide you through, like, life
decisions and...
What to avoid.
Yeah, food choices and drug choices and those kind of things, and give you some guidance
based purely on your DNA, which, you know, keep in mind, that's basing a lot on maybe
a little.
So, you know, use some common sense.
Oh, and then there's even some more deep stuff here, a little deeper.
Yeah, so the previous slide would show you how to get some pretty reports and really
look at things from a higher level, easy to read.
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 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, but this is
a really good place to start.
Again, not comprehensive, but I encourage you guys to go out and learn about yourself.
Yeah, so I don't know that we're the type that we can answer any questions, but I guess
we could take a question or two if there is any.
Thank you.
Yes.
I'm just curious what the process is for these companies.
What sort of genetic material do you send them for testing, and is it possible to do
it anonymously?
Ooh, anonymously is a good question.
Oh, she must know something.
Yeah, so most of them are basically a spit culture of some sort, and they send you all
the stuff.
They make it super easy.
And you've got to generate at some level.
And you've got to spit into this thing.
And I think it feels like a quart of spit, but it's really not that much.
What were we going to say about the Anonymous?
Oh, yeah.
So when I went into this being a cybersecurity professional, I have concerns about my privacy
tied to my genetic DNA.
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
voiding that anonymity?
But there are ways to do it anonymously.
You could just build your own lab.
I'm sure we're not that far away from that, I'm hoping.
It is quite expensive now, but everything gets cheaper and cheaper.
So yeah.
If I may?
Yes.
Having been genetically tested, if you're a clever hacker, do you think there are ways
to get the samples, literally, to get the samples?
If you're a clever hacker, do you think there are ways to get the samples, literally, rerouted
through physical relays?
You can use pseudonyms, you can use burner cards.
And you can access things through Tor, etc.
It's just, how anonymous do you really want to be?
Is it worth the hassle?
That sounds like talk.
Yeah, that does sound like a talk.
If you do that talk, I want to be there for that.
I want to know how prevalent are SNPs, single nucleotide polymorphisms?
And also, how much, 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 sequence your genetic code.
They don't see everything about you.
There are certain common variations that they test for, and they compare it to your DNA.
And that's where the SNPs come in.
So they're common.
They're very common.
Whether they're expressed or turned on or off is another debate, but they're very common.
In fact, what I said, I have the MTHFR homozygous C677D.
About a third of you probably are the same.
It's pretty common.
Yeah.
And I'll say some of them are, you know, saying you have a mutation or a variant, sometimes
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 asparagus in people's pee.
So you know, it's nothing to be like, to fret over necessarily.
Veritas Genetics will do your entire genome now for 1,000 U.S.
It's coming down.
Are you thinking of doing that?
Ooh.
I am.
Yeah?
Definitely.
I want to know what I don't know.
Okay.
Plus they're doing a lot.
That's another interesting thing about these companies, too.
Now they have this amazing data set, right?
And they're now doing correlations where they would have never known there was a correlation
before.
And some of it's goofy, but the proof of concept is there, and 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 something goofy, like cleft chin or something.
Last question.
So great talk.
Thanks very much for sharing your personal stories.
And one of the challenges of genetics is even if you do all that, you're 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 pre-existing 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.
I've been fully sequenced.
I've had a full genome sequence.
I've had 23andMe as part of an exploration.
And one of the challenges I find with that is that there's a real risk.
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.
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 experienced any explicit impact related to insurance coverage and any of those
kind of things.
But that's an interesting question.
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'm one of the guys that is more willing to be...
I'm more willing to give up more of my privacy to get more stuff out of life.
I know that's contrary to this whole crowd, but I'm kind of like Joe U.S.
I'm, yeah, yeah, here, have some stuff and tell me some stuff and let's see what happens.
Security through obscurity, right?
And I think a lot of people are that way.
And I think that at the end of the day, there's some serious risk there.
I don't know if that answered your question.
I haven't run into anything.
No, 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.
Absolutely.
Because at that point, who cares?
Right.
I need all of the information.
So I think it's not an unreasonable...
I don't want anybody to stab me in this circumstance.
But I think that's a fair comment.
But at some point, you've got to give up something to get all of that, and it's finding
the balance.
But thank you.
Agreed.
Nice.
Okay.
I think that's it, folks.
Thank you guys very much.