As some of you may know, I am part of the Genetics PhD
program at Stanford, and one of the courses
I'm taking this quarter is Genomics
and Personalized Medicine.
And as part of that course, I got genotyped.
So first I want to clarify the difference between genome
sequencing and getting genotyped.
So if you're trying to do full genome sequencing, what
you are trying to do is look at every single base
pair in your genome.
All of the A's, T's, C's, and G's that make up your DNA.
You're trying to read from the first one to the last one
and get as much information as possible.
So you end up getting these huge, long strings
of A's and T's and C's and G's that are telling you
about your genes and all the regions
in between your genes and anything that's in there.
However, full genome sequencing is still very expensive.
It's quickly becoming more affordable
but it's still a few thousand dollars for you
and me to get our genome sequenced.
So that's a little bit out of the price range of a course.
So what we had done was 23andMe, which is a genotyping service.
So instead of looking at every single base
pair in your genome, 23andMe looks at your genotype.
So they are looking at very specific and indicative
positions in your genome known as Single Nucleotide
Polymorphisms.
Now these Single Nucleotide Polymorphisms, or SNPs,
are simply places in your genome where you might have one base
and I might have another.
So for most of our DNA, you and I
are probably completely identical,
but there are these positions where people vary.
So let's take, for example, a position
that looks at whether or not you can digest lactose.
So at this specific SNP, you can either
have an A or a G. An A means that you are likely to be
able to digest lactose.
A G means that you are likely to be lactose intolerant.
Now remember that you get one copy
of each gene from your mother and one
copy of each gene from your father,
and so you will have a two-letter genotype
at this SNP.
So for example, I am GG, which means
I inherited a G from my mother and a G from my father
and I do not always do so well with dairy products.
Now the SNPs in your genome can tell you a lot more than just
whether or not you are lactose intolerant.
They can tell you things about traits-- so brown hair,
greenish eyes.
They can tell you things about disease risks
and they can tell you things about your ancestry.
So because we used 23 and Me for my Genomics and Personalized
Medicine course, I want to tell you
a little bit about what that process was like
and what the information I got back from 23andMe was.
So we each got our own 23andMe kit and you have
to register that kit online, and then inside that kit,
you get a tube and you have to spit a lot of spit
into that tube.
You mix your spit with some preservatives found
in the cap of the tube, put it back in the kit,
and mail it back to 23andMe.
And then, a few weeks later, I got an email from 23andMe
telling me that my data was ready.
Now you might have heard a little bit in the news
recently about 23andMe and the FDA
and a whole sort of debate that's going on right now
about consumer genetic testing for health reasons,
so currently, 23andMe does not give out health information,
as they used to.
So what I got back from them was information about my ancestry.
So if you think about these SNPs in your genome,
I have the SNPs that I have because I got them
from my parents, who got them from their parents, who
got them from their parents.
So you can imagine that SNPs sort of arise
in different populations.
There are SNPs that are very common to Europeans,
there are SNPs that are very common to Asians, to Africans.
So by looking at the SNPs in your genome
and looking at which SNPs you got,
you can sort of piece together your ancestry.
Now my 23andMe ancestry report wasn't the most surprising.
So I am mostly European, mostly French and German and Italian,
and having a mother who is predominantly
French Canadian and a father who is predominantly French
Canadian and Italian, these things
were not that surprising.
Now one of the other interesting pieces of ancestry information
that I got from 23andMe was my Neanderthal percentage.
So, way back in human history, humans and Neanderthals
had a mating event and so humans still
carry on some certain SNPs that actually
came from Neanderthals.
So 23andMe can look at those and give you your percentage.
I am 3.3% Neanderthal according to 23andMe's algorithm,
which puts me in the 99th percentile of humans
living today.
So I'm pretty Neanderthal.
Now we're not really sure what this means for us yet.
You know, it probably doesn't mean
that I'm a crazy cavewoman who's going to go out
and hunt a mammoth tomorrow, but it does mean that, you know,
some of the Neanderthal SNPs live on in me today,
which I think is kind of cool.
Now 23andMe also gives you back your raw data.
So you can look at this online or you can download it,
and it basically gives you a big, long list of all
of the SNPs that they genotyped.
So you can go through this, and if you
have a specific SNP that you want
to look at for a specific trait, you
can type in the name of that SNP and go there and see
if you have A's or C's or T's or G's and what
you have at that locus.
So when you get your 23andMe raw data back,
it's kind of a fun thing to do to look through
at some common SNPs of interest.
So there are SNPs that correlate to things like your breast
cancer risk or your Alzheimer's risk,
but there are also some sort of fun SNPs.
So I looked up things like whether or not
I have wet or dry earwax.
There's a SNP for that.
And it turns out that I have wet earwax, which I already knew,
which is very common and typical of Europeans.
But going through each individual SNP on its own
and trying to put together all of the information
that you get from all of these SNPs
is a really difficult thing to do.
It would take a lot--
a lot-- of time to go through all of these SNPs.
But thankfully, I am taking this course,
Genomics and Personalized Medicine, which
helped me to go through it.
So the course tries to tackle the idea
of getting your own personal genotype
from a few different angles.
So the first couple sessions were
all about the sort of personal and emotional repercussions
of getting your genotype done.
So we talked a lot about what it could
mean if you got a negative result.
We did a bit on informed consent and all sorts of things
surrounding this.
And you don't actually have to get
genotyped to take the course.
You can go through the course not being genotyped and using
sort of an open genotype just to do all the exercises.
But so I did choose to get my own genotype done,
which I'm sure none of you are surprised by,
and so then going forwards in the class,
each week, we look at a different disease
or sort of a different set of diseases
and then we look at our own SNPs and see
what our potential risks are for these diseases.
So the class explores our genotypes
using a website known as GENOtation,
and if you have had your 23andMe report done,
you too can upload your data to GENOtation
and go through some of the exercises on the website.
So there's everything ranging from your Neanderthal SNPs
to your ancestry to your disease risks
to some pharmacogenetic methods as well.
You can also put in your SNPs for your ancestry
and it'll plot you on a graph of where
you might fall in the world.
So what your population groups are.
So this is pretty cool to do individually but it's also
really cool to do as a class, because we can each
individually look at our own results from our genotype
and then upload them and they'll all get plotted onto a large
graph or map or whatever-- whatever we're looking at--
for the whole class.
So GENOtation also looks at SNPs correlated with disease risks,
and it's always important to remember
that there are very few SNPs in your genome
which are a yes or a no answer for a certain disease.
So most of the time what we're looking at
is an increased risk for a disease.
You might find out that you have an increased
risk for cardiovascular disease, or if you're me,
a super decreased risk of diabetes, which was
an awesome thing to find out.
So you can go through this and you can sort of think
about these different ideas of, well,
because I have a decreased risk of diabetes,
does that mean that I can sit around all day
and eat fast food and lots of sugar?
Probably not.
That probably would not be a good idea for my health.
But if you do find out that you have something like a really
increased risk of diabetes, you can
start to think more about sort of exercising and eating
right and all sorts of things that would really
be good for your health anyways but might be something
you want to consider.
So for me, the experience of getting GENOtyped
both through 23andMe and this class
was something that I had wanted to do
for a long time and something that I
had put a serious amount of thinking into.
So it's very possible when you get your genotyping done
that you're going to get back a result that you're not
expecting.
So some of the SNPs that 23andMe looks at
include things like your Alzheimer's risk.
So it was very possible that I was going to get my data back
and find out that I was at an increased risk for early-onset
Alzheimer's.
And so I really thought about whether or not
I would want to know that information, who would
I want to share that information with, right?
Because I get my DNA from my parents,
and so if I found out that I had something
that was at an increased risk, that also
has implications for them.
Would I want to tell them?
Would they want to know?
So this is something that I discussed
with friends and family before I got it done
and really put a lot of thinking into.
And I decided that, for me, I really
wanted to know as much information
as possible, because if it was good news in my genome,
that was pretty exciting, and if it was bad news,
I personally would want to know that to be able to sort of do
some forward planning for care and sort
of planning for what would need to be done
at later points in my life.
So personally, I'm really happy to be on sort
of the forwards edge of this.
I didn't have anything in my health
that I was especially concerned about.
I just wanted this information to sort of be proactive and go
forwards because if there had been something in there that
was negative, I wanted to be able to sort of catch
it quickly and as fast as possible.
But I really do think that going forwards, genomes
and your genetics are going to play
a much bigger role in medicine.
Now maybe I'm a little biased as a genetics PhD student thinking
that genotyping is the way of health care in the future,
but I really do think that as time
goes on and in the next few years,
more and more people are going to be
getting their genome sequenced and getting genotyped.
So if you don't take anything else away from this video,
I want you to sort of take away the idea of what genotyping is.
It's looking at certain positions
in your genome, Single Nucleotide Polymorphisms, SNPs,
which are correlated with these different disease risks
or traits.
And I also want you to remember that it's
very rare that a SNP is a yes or no answer.
Often, these SNPs are correlated with increased or decreased
risks of having a trait or getting a disease.
So think of genotyping as looking
at just a few little spots on the map of your genome
and trying to make inferences about what that could
mean about you and your health.
And as always, I need you to remember
to go forth and do science.