
23andMe raises $50M, cuts price to $99, sets goal of 1M genotyped customers - joecackler
http://blog.23andme.com/news/one-million-strong-a-note-from-23andmes-anne-wojcicki/
======
hop
In other news, 23andMe introduced relative finder not long ago. I hadn't
logged on in over 2 years after I did it with a groupon promo, but I had a
public profile with my name and city. A half-sister i didn't know i had found
me with matching DNA, owns a business 5 blocks away and walked over to meet me
(what's the probability of that!?). Found my dad was not my biological dad and
i was from the same sperm donor as my new sister. That was a weird week...

~~~
loceng
Are you joking?

~~~
jQueryIsAwesome
I'm sure that happens a lot; father is sterile so they use artificial
insemination and they never let the kid know; is just that OP is one of the
few who later found out.

~~~
hop
Yep, that's what happened. Also, procedures were different back then, so we
could have many more siblings, hope we didn't hook up in college.

~~~
mvleming
The percentages I've heard are all over the place, but a decent number of
children are actually not genetically related to their fathers. (I've heard
anywhere between 3% and 30%.)

One theory that's been postulated is that women have affairs to increase the
genetic diversity of the sperm that compete for her egg, thereby increasing
the chances that her children will have good genes.

~~~
mcherm
> One theory that's been postulated is that women have affairs to increase the
> genetic diversity of the sperm that compete for her egg, thereby increasing
> the chances that her children will have good genes.

That would be better expressed like this: > One theory that's been postulated
is that women have affairs.

The speculation about the reason for the affairs is just silly. Seriously.
This made-up pseudo-evolutionary explanations for things that are so popular
really do not add anything. Try it: ask 10 different women who have had
affairs what their reason was -- they are real, live human beings, so you can
ask instead of just speculating. I'm guessing that 0% of those women will say
"to increase the genetic diversity of the sperm that competes for my egg".

~~~
mvleming
If I asked you "Why do you take your hand off a hot stove?" you might say
because it hurts. But the fact that it hurts for us when we put our hand on
the stove is our genes trying to keep themselves alive, because otherwise they
risk being killed.

In the same way, a person might say they had an affair for whatever reason,
but really its their genes who want to be able to pass on themselves.

(Edited for clarity.)

~~~
justincormack
Not really. That's a theory and it is one that is hard to disprove
experimentally. It is a much stronger theory than evolution, saying that every
action is correctly designed to optimise gene transmission. Essentially it is
trying to say that we are at a global maximum in a space that is probably more
nonlinear. In fact our genes may well be suboptimal in some respects even if
you think they have "control". The contortions people go through to try to
justify homosexuality as a genetic thing are one example of many. In fact
diversity is an advantage in a varying environment so many traits must be
suboptimal.

~~~
hackinthebochs
>Not really. That's a theory and it is one that is hard to disprove
experimentally. It is a much stronger theory than evolution

This isn't right at all. The idea that our behaviors are shaped in ways that
increase our fitness follows _necessarily_ from the theory of evolution. If we
believe that behaviors are influenced at all by our genes, then behaviors that
are detrimental get weeded out. What's left over was more fit for that
environment. There is mountains of evidence that our behavior is affected by
our genes.

That is not to say that all behaviors are optimal at all times. For one, our
environment has changed monumentally in just the last few hundred years.
Behaviors that were optimal back then may not be now. Also, there are multiple
levels when considering optimal behavior. Behavior that is suboptimal for the
individual can still be optimal for _the gene causing that behavior_.
Homosexuality for example. It may be true that the homosexuality gene is
optimally propagated when its in 10% of the population (look up evolutionary
stable strategy).

I recently read about a study that claimed the male homosexuality gene when in
a woman greatly increased her sexual attractiveness and sexual aggressiveness.
When it's in a man it makes him homosexual. I'm sure its too early to take
this as fact, but this scenario would lead to a non-zero optimal distribution
of that gene in the population.

~~~
dalke
> The idea that our behaviors are shaped in ways that increase our fitness
> follows necessarily from the theory of evolution.

This is a misreading of evolution. To start with, we are not optimal. Not even
locally optimal. No species is. Who is the optimal human? Is that person alive
today?

Second, you haven't considered timescale. You say "get weeded out". How long
does that process take? Suppose all behaviors are directly influenced by
genes. A low-impact detrimental behavior - let's say a tendency to pick one's
nose in public - faces essentially no evolutionary pressure, and so will
persist effectively forever. Rather, it would be long enough as to make it
nearly impossible to tell if that behavior is a beneficial or detrimental one.

How can you tell that the behavior you are examining increases fitness or
decreases fitness but happens to be in the same genome as something else which
greatly increases fitness?

Suppose that a subpopulation of humans acquires the 'hunk/babe' mutation and
also acquires the nose picking mutation. The first gives an strong genetic
advantage, and the second a very minor disadvantage. Over 1,000 years, this
subpopulation dominates the overall human genetic makeup. Some researchers
then point to the increase in nose picking in the general population and
conjecture that nose picking must have conferred some genetic advantage. But
this is wrong. Nose picking came along for the ride.

(For purposes of that thought experiment, assume also that the environment is
unchanged during that time.)

Third, the coupling between behavior and genes can be extremely tenuous. 300
years ago you could look at European populations and conclude that they were
genetically predisposed towards monarchy. Some believed that this was the
natural order of things. Where's the gene for democracy? 1000 years ago you
could conclude that there was a genetic predisposition towards Catholicism.
What genetics caused people to chose that over, say, Zoroastrianism?

~~~
hpvic03
> This is a misreading of evolution. To start with, we are not optimal. Not
> even locally optimal. No species is. Who is the optimal human? Is that
> person alive today?

Optimal refers to having the highest probability of surviving and reproducing
in the given environment. Since humans dominate the earth, we are more optimal
than any other species of animal.

From a genetics standpoint, the most "optimal" human would bear as many
children as possible while still maintaining the earth as a hospitable
environment, and minimize all potential risk factors that could harm his or
her children. So yes, there is a theoretical maximum for evolution that we
haven't reached, but we will likely never reach it.

> Second, you haven't considered timescale. You say "get weeded out". How long
> does that process take?...How can you tell that the behavior you are
> examining increases fitness or decreases fitness but happens to be in the
> same genome as something else which greatly increases fitness...Some
> researchers then point to the increase in nose picking in the general
> population and conjecture that nose picking must have conferred some genetic
> advantage. But this is wrong. Nose picking came along for the ride.

Meiosis randomly splits chromosomes via crossing over, then pulls out one half
of the chromosomes (23) to later pair with the 23 chromosomes from the other
zygote (sperm or egg cell). After enough iterations this process can isolate
genes that increase or decrease fitness.

> Third, the coupling between behavior and genes can be extremely tenuous. 300
> years ago you could look at European populations and conclude that they were
> genetically predisposed towards monarchy. Some believed that this was the
> natural order of things. Where's the gene for democracy? 1000 years ago you
> could conclude that there was a genetic predisposition towards Catholicism.
> What genetics caused people to chose that over, say, Zoroastrianism?

Culture certainly affects behavior, yet humans have sex and produce kids in
every culture. When it comes to survival and reproduction, genetics preempts
culture when it comes to individual behavior. Democracy isn't an individual
behavior, it's a cultural idea. People typically live under whatever
government they're born into. Same with religion.

It seems logical that women could be genetically predisposed to desire
multiple partners in order to increase the variety of genes and thus enhance
the fitness value of their offspring. However, I do not know how you could
prove or disprove this idea.

~~~
dalke
> Since humans dominate the earth, we are more optimal than any other species
> of animal.

LOL! You are amazingly self-centered. Yes, humans are the most numerous
mammal, with rats second. There's 50 billion chickens. By your definition,
chickens are more optimal than humans. The nematode populations are measured
in up to millions per square meter. With an estimated 1 million species of
nematodes, the average nematode species population is comfortably higher than
that of humans. There's an estimated one to ten quadrillion ants in the world
across 22,000 species, so about 500 billion ants per species, on average.
Again, higher than the number of humans.

There are about 1 million wheat plants per acre and 60 million acres planted
gives a wheat plant population of over 1 trillion. (It hard to find numbers
for non-commercial plant populations.)

But wait! Why look at multicelled animals? Bacteroides fragilis, Bacteroides
melaninogenicus, Bacteroides oralis, Enterococcus faecalis, and Escherichia
coli are found in basically every person's gut, so there's definitely way more
of each of those species than humans. To say nothing of those species
populations elsewhere. It's really hard to find estimates of the total number
of a single bacteria species.

Would you care to revisit your statement that humans "are more optimal than
any other species of animal"? At the very least you should acknowledge that
chickens are more optimal than humans.

> the most "optimal" human would bear as many children as possible while ...

You wrote "his or her children" but you meant to write "descendants." In any
case, you are viewing things on the wrong level. Evolution works on genes, not
individuals. Humans, like other primates, are social beings. It is part of our
evolutionary strategy to help others of our species, especially those we
recognize as family. You'll easily notice that other mammals don't all follow
the strategy you say is the evolutionary mandate. The naked mole rat is a
favorite example; only the queen and one to three males reproduce, while the
rest are sterile workers. Why do those workers work if they don't have
children?

Some animals eat their own young, or preferentially feed the strongest (hence
how cuckoos get others to raise their young) and leave the weak to die if
there isn't enough food. These are obvious counter-examples to your assertion
that parents "minimize all potential risk factors that could harm his or her
children."

In addition, why did you choose a definition of "optimal" based on population
count instead of, say, species longevity? Surely the Queensland lungfish,
where fossils identical looking to the modern form exist from 100 million
years ago, has a stronger claim to being optimal than H. sapiens' scant
500,000 years.

> After enough iterations this process can isolate genes that increase or
> decrease fitness.

Obviously. My point was regarding the length of time it takes. If "enough
iterations" for humans is 50,000 then 1.5 millions years is longer than H.
sapiens has been around. Now factor in that most mutations are either neutral
or negative, and you end up with a lot of slightly detrimental mutations which
last for a very long time. How then do you tell that an observed behavior,
with no obvious, direct benefit (like nose picking) is evolutionarily
beneficial or detrimental but following along on the coat tails of a more
beneficial mutation?

~~~
hpvic03
My definition of optimal was in terms of control over the environment. We
could kill all 50 billion chickens if we wanted to.

If we want to redefine optimal to mean quantity of genes in the environment,
then humans don't come out on top right now, but we could if we wanted to; I
am sure that if we desired we could set up a lab to replicate more of our
genetical material than any other species has in the environment.

Also, by this definition the most optimal human would theoretically attempt to
turn all of the matter in the universe into copies of his/her genes.

A gene for a behavior that affects the number of sexual partners an animal has
would likely have been selected for or against long before H sapiens evolved,
thus enough iterations have occurred to weed out polygamy in mammals if it was
a detrimental behavior. As for your ride-along-nose-picking thesis, I suppose
it could be true. Nose picking only recently became a detrimental behavior in
terms of evolutionary timescales.

~~~
dalke
I figured you would say that about chickens. Basically, if you pick a
definition which only works for humans, then sure, humans are going to be the
winner. You might as well say that humans are the most optimal because they
are the only ones to have put satellites into orbit around Mars. True, but not
a useful species comparison.

Tell me, can you even apply your concept of "wanted to" to any other species?
Which are the most successful fish species by this definition? Could any
species of ant ever "want to" kill all humans? If they really wanted to, could
they succeed?

As it stands then, your definition is useless, and propaganda for the
supremacy of the humans species.

If we go extinct tomorrow - pretend this is the height of the Cold War and WW3
starts, with 50,000 nuclear weapons going off across the surface of the planet
- then would an alien observer say that we were a successful species, because
of our massive effect on the ecosystem, or would they say that we were a
dismal species, which only lasted for a few hundred thousand years?

If we go extinct next year because of a hyper-virulent virus which kills only
humans, would you say that that virus is more optimal than humans?

Your answers probably say more about you than provide a useful guide to how to
measure evolutionary success.

As to the amount of genetic mutation present, that's just silly. There's 844
million tons of maize harvested each week, with plenty left as chaff. Assuming
an average human mass of 65 kg and a population of 7 billion gives 460 million
tons of people. Corn DNA is slightly larger than human DNA and plant cells
tend to be smaller than animal cells. By the mass or count definition, corn is
more successful than humans. There's 651 million tons of wheat harvest each
year, but wheat's genome is 5x bigger than humans, so there's certainly more
wheat DNA in the world than human DNA.

In any case, you're again too focused on the individual. Evolution only cares
about genes, not individuals.

That's why your correct extrapolation - "the most optimal human would
theoretically attempt to turn all of the matter in the universe into copies of
his/her genes" - shows that that definition of optimality is invalid.
Individuals aren't relevant. There's no guarantee that duplicated genes in
cloned copies of a single individual are better at survival than having a mix
of genes spread across a heterogenous population.

And your last paragraph shows that you don't understand the effect of mutation
in evolution. All you are thinking of is the weeding out part.

Mutations occur all the time. Humans have about 0.003 mutations per genome per
generation. For every 4000 births, there is a mutation. Few are improvements.
Nearly all have no effect or are negative. Suppose one mutation has a really
good advantage, and the only child from that person both 1) inherits the gene
and 2) has a _brand_ _new_ nose picking mutation which confers a slight
negative effect. Then that person's children will inherit both mutations. The
really good one is going to spread, and the new, detrimental mutation _will_
_also_ _spread_ \-- even though it doesn't help improve survivability!

------
dsplittgerber
Is the most obvious question being adressed in any jurisdiction yet? - Do you
legally have to disclose your results to any insurance company you already
have an existing contract with or prior to any new insurance contract?

By chance, I just read a typical life insurance contract and it already stated
that if you have undergone a genetic testing, you do have to disclose your
results if you enter into a life insurance contract >300.000€. This was
stipulated in the contract and not under general German contract law. If you
do not disclose your results, the company can void the contract any time
and/or terminate it any time in the future.

This is going to be THE most important issue with genetic testing - the
implications for your insurance contracts. Obviously, your test results can
have massively positive or negative results.

~~~
apaprocki
In the US, President Bush signed the Genetic Information Nondiscrimination Act
of 2008 which covers these topics. Some relevant parts are available here:
<http://thomas.loc.gov/cgi-bin/bdquery/z?d110:HR00493>:

edit: Specifically, "`(A) IN GENERAL- For purposes of this section, a group
health plan, and a health insurance issuer offering group health insurance
coverage in connection with a group health plan, may not adjust premium or
contribution amounts for the group covered under such plan on the basis of
genetic information."

~~~
martincmartin
Gender is determined genetically, and men and woman have different life
expectancies. Does this mean you can't charge men and women different rates
(all else being equal)?

~~~
mtgx
That would be the same as charging women different for being more prone to car
accidents.

~~~
mseebach
It's very common that young male drivers (by virtue of being grossly
overrepresented in accident statistics) have very high premiums.

------
tokenadult
I did a news search to see what researchers are saying recently about the data
analyzed by 23andMe. One news article led me to a company blog post by a
bioinformatics researcher, Gabe Rudy, "GATK is a Research Tool. Clinics
Beware"

<http://blog.goldenhelix.com/?p=1534>

in which he applied his own industry knowledge to his updated 23andMe report.
His conclusions suggest that the product needs much more work:

"I promptly sent an email off to 23andMe’s exome team letting them know about
what is clearly a bug in the GATK variant caller. They confirmed it was a bug
that went away after updating to a newer release. I talked to 23andMe’s
bioinformatician behind the report face-to-face a bit at this year’s ASHG
conference, and it sounds like it was most likely a bug in the tool’s multi-
sample variant calling mode as this phantom insertion was a real insertion in
one of the other samples."

. . . .

"But because GATK has been used so prolifically in publications and is backed
by the Broad Institute, it can be viewed as a 'safe' choice. As small labs and
clinical centers around the world are starting to set up their DNA-seq
pipelines for gene panel and exome sequencing, they may choose GATK with the
assumption that the output doesn’t need to be validated.

"And that would be a mistake.

"GATK is as susceptible to bugs as much as any complex software. Their new
mixed licensing model (free for academic, fee for commercial) is intended to
add more dedicated support resources to the team. I suggest they think about
adding dedicated testers as well."

So for those of us following along at home, the crucial idea is that most of
the "information" that 23andMe provides paying clients has not been validated.
Not only has it not been validated as to correctness of the genome analysis
software (the industry scientist's observation), it has even less been
validated as a clue to clinically significant disease risk for the majority of
diseases that afflict people in developed countries. Pay your money for the
service at the new lower price if you like, but prepared to see your personal
genome results repackaged and reinterpreted for years to come before you learn
anything from them that will help you improve your health.

~~~
carbocation
Interesting article, although I think the author incorrectly blames the
software tool rather than 23andMe.

The GATK is a research tool in active development. "Clinics beware" makes
little sense because it's not like there is any real alternative (aside from
other research tools). This is new territory for everyone. It almost strikes
me in the same way as if someone were to say, "Users beware: Linux is a
research tool". Whether or not it is a research tool doesn't change that
misuse of the tool will lead to poor results.

It's been a little over a year since I last directly used the GATK's caller,
but at that time indel calling (the thing that produced this blogger's error)
was experimental and clearly labeled as such in loud capital letters.

Also, the GATK does not make one use insane parameters such as allowing
variant calls supported by 0 reads; that's the choice of the person running
the software...

~~~
tokenadult
Thanks very much for your reply.

 _This is new territory for everyone._

I have developed a habit of liberally upvoting most of your comments on
threads related to biology, as I consistently learn from them and see you
taking the time and effort to correct popular misconceptions as you
participate here. So knowing that I'm asking someone who'll give me a straight
answer, I wonder if you could comment specifically on my statement above

"So for those of us following along at home, the crucial idea is that most of
the 'information' that 23andMe provides paying clients has not been validated.
Not only has it not been validated as to correctness of the genome analysis
software (the industry scientist's observation), it has even less been
validated as a clue to clinically significant disease risk for the majority of
diseases that afflict people in developed countries. Pay your money for the
service at the new lower price if you like, but prepared to see your personal
genome results repackaged and reinterpreted for years to come before you learn
anything from them that will help you improve your health."

I'm heartily in agreement with the idea of doing fundamental research on the
human genome and gathering large datasets to analyze to look for genetic clues
to human health and disease. I participate each week during the school year in
the University of Minnesota "journal club" on behavior genetics, in which a
group of scientists (mostly psychologists, but a few mathematicians and
economists) who investigate genetic influences on human behavior meet to
discuss the latest papers on new research. The overwhelming impression I get
is that commercial businesses like 23andMe certainly mean well, and are trying
to make available new gene analysis tools to a broader public. But that they
are running ahead of their ability, based on current science, to deliver
actionable information to the clients who pay for their services. There is
still an astounding lack of replicability and of large effect sizes in almost
any genome study related to common human diseases or to socially meaningful
human behaviors. Much more research needs to be done.

~~~
carbocation
Thanks for your kind words; I feel the same way re: your posts as well.

> So for those of us following along at home, the crucial idea is that most of
> the 'information' that 23andMe provides paying clients has not been
> validated. Not only has it not been validated as to correctness of the
> genome analysis software (the industry scientist's observation), it has even
> less been validated as a clue to clinically significant disease risk for the
> majority of diseases that afflict people in developed countries.

In general, what you say here is going to true. I can't comment specifically
on what 23andMe claim to demonstrate, because I haven't seen their actual
output, but it's usually very difficult to go from genetic data to _individual
risk prediction_. In fact, trying to do so is low-yield-enough that I don't
even expect to find individual risk prediction to be interesting for most
diseases (at least, not for the next several years). So heuristically I will
assert that any claims about individual risk prediction, for most diseases,
are unlikely to be clinically important. The obvious exceptions are Mendelian
genetic conditions. If they find that you are homozygous for CFTR ∆F508,
you're almost certainly going to develop cystic fibrosis (well, you'd probably
already have clinical symptoms by the time you get the test).

But a good number of disease conditions aren't (typically) Mendelian. Will you
develop heart disease? If you have certain high-impact mutations in the LDL
receptor, we might be able to say with reasonable certainty that you will
develop heart disease by a certain age. But high-impact mutations are
(usually) rare for most diseases.

The majority of what we have been discovering over the past few years are
common variants of modest impact (powerful statistical associations but with
odds ratios barely differing from 1). When we try to answer questions like,
"Why do black Americans have more heart disease in the US?" we don't get
smoking-gun mono- or oligogenic answers.[1] Even combining these markers (that
are known to be robustly associated with a phenotype) into a single score
doesn't do a whole lot more than just knowing the biomarkers that we already
measure.[2]

Finally, we have to wrestle with the issue of causality. For example,
increased HDL-cholesterol is epidemiologically associated with decreased risk
of heart disease. So people say, "HDL is good cholesterol." OK, maybe. My
colleagues tested that hypothesis with one single nucleotide polymorphism in a
gene that appears _only_ to modify HDL-C levels, LIPG. (Most genes that modify
HDL-C also modify LDL-C or triglycerides, and pleiotropic effects ruin your
ability to assess a single biomarker.) They said, "Epidemiologically, an X%
increase in HDL-C associates with a Y% decrease in risk of heart attack. Also,
this LIPG SNP associates with a J% increase in HDL-C. Therefore, based on that
J% increase in HDL-C, we expect a K% decrease in heart disease _if HDL-C is a
causal biomarker_." What was the result? The LIPG SNP had the expected effect
on HDL-C levels, but had absolutely zero association with your risk for heart
attack (the OR was like 0.99 with a CI that easily included 1.0). In contrast,
an LDL-C SNP score had a robust association in the expected direction (more
genetic variants that are known to raise LDL-C? more heart disease risk).[3]

In other words, is HDL a causal protective factor? It appears that, for at
least one cause of high HDL-C, it is not. (This doesn't give me license to
dismiss the entire HDL hypothesis and I wouldn't intend to do that without
exhaustive scientific work, of course.)

How much of this is out there? Probably tons. It's probably only known by
domain experts, or (more commonly) nobody.

So if you're still following this minimally coherent post, we're discovering
common variants with very weak effects that often impact biomarkers which may
or may not be causal for the diseases of interest, and our view is being
revised all of the time.

Is it interesting? From a research perspective, yes, it's awesome. We're
finding all of these landmarks in this enormous genomic map. This gives us
insight into the architecture of diseases. It gives us smarter therapeutic
targets. It helps us evaluate potential therapeutic targets via tools such as
Mendelian Randomization to save years of time and billions of dollars avoiding
clinical trials that are unlikely to bear fruit (one example of which I
discussed above with the LIPG paragraph).

But to an individual alive today wondering about the direct clinical utility
of this information? Not today, not right now, not in my opinion. If it's any
indicator, I haven't done 23andMe, and if I did, it would be for entertainment
purposes.

Will this stuff be in clinics in a few years? Yes, probably. Will it be
useful? My guess is that it will be most useful, even then, for research.
Eventually there will be clinical significance, but I suspect that the
clinical significance will largely go hand-in-hand with the development of
therapeutics that have specific genetic targets (e.g., perhaps you have some
predisposition to developing cancer, but with your genotype we know that if we
give you these 3 tyrosine kinase inhibitors you're very unlikely to develop
cancer). I could see that developing.

> Pay your money for the service at the new lower price if you like, but
> prepared to see your personal genome results repackaged and reinterpreted
> for years to come before you learn anything from them that will help you
> improve your health.

Yes, this is absolutely true; there is much more work to be done, and if
23andMe's users are _lucky_ they'll have to keep re-downloading their genomic
data as they are updated with new information. If they end up stuck with what
we've got now, well, that's stable but incredibly boring.

> But that they are running ahead of their ability, based on current science,
> to deliver actionable information to the clients who pay for their services.
> There is still an astounding lack of replicability and of large effect sizes
> in almost any genome study related to common human diseases or to socially
> meaningful human behaviors.

I think that there is actually remarkably good reproducibility of the genetic
associations with common human diseases, but these are mostly of small effect.
A lot of the associations in the candidate-gene/pre-human-genome era do appear
to be spurious, however.

1 = <http://www.ncbi.nlm.nih.gov/pubmed/21347282?dopt=Abstract>

2 = <http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2845522/>

3 =
[http://www.thelancet.com/journals/lancet/article/PIIS0140-67...](http://www.thelancet.com/journals/lancet/article/PIIS0140-6736\(12\)60312-2/abstract)

------
Shenglong
Just a note, especially for non-Europeans who are thinking of doing this:

I just used 23andme from Canada during the $49 A/B testing. Delivery was next-
day, and other than 15ml of saliva being _a lot_ to collect, the process was
pretty smooth. They say it'll take 2-3 weeks, but realistically it took them
about 4 business days to process my sample.

Unfortunately, almost all the results are for Europeans. There may not be that
much of a difference between Europeans and Asians (I'm not sure), but it's
worth mentioning. They also don't test for repetition induced diseases, so
things like Huntington's won't show up.

~~~
darkarmani
> They also don't test for repetition induced diseases, so things like
> Huntington's won't show up.

In this case, that only matters if your direct ancestors have it anyway. If
your grandparents or (worse) parents have it, you probably want to get a
different test (if you want to know).

------
rsuttongee
I think one of the most compelling stories as to why 23andme (and other
genotyping services) is amazing is Sergey Brin's:

<http://too.blogspot.com/2008/09/lrrk2.html>

Because of 23andme he found out early that he has a high chance of getting
parkinson's disease. He now has the chance to prevent (or at least prepare
for) it.

~~~
aggie
Convincing a lot of very wealthy people (and their families) to get genetic
testing could see significant funding directed toward disease prevention and
treatment research.

------
tocomment
I was bummed to see they won't ship to Maryland. It seems Maryland thinks
adults aren't responsible enough to have access to their own genetic data.

~~~
darkarmani
Genetic Tourism starts happening in neighboring states?

------
r3demon
Will they give my genotype information to FBI or CIA? Will they pay damages if
information gets stolen? This is not some passwords or account numbers, this
is data about real world which can't be changed.

~~~
MichaelGG
Why not buy a gift credit card, and not use your actual identity to purchase
the registration? They don't appear to require any rigorous proof of identity.

~~~
carbocation
It would be trivial to figure out who you really are once enough relatives
sign up.

~~~
MichaelGG
The point is to avoid casual easy association via a name/address lookup, not
defend against in-depth analysis from entities that know everyone in real life
and in the database.

Plus, you could be an unmentioned adopted-out person, which would look
identical, so they couldn't prove it was you without further examination.

------
sami36
If their results are accurate to a degree, why are their tests not being
subsidized by insurance companies. How much would an insurance co save by
alerting a patient to her chances of getting diabetes, not to mention the
money the patient would itself save.

~~~
maratd
There are really 3 sets of results they provide.

1\. Genetic disorder. Tay–Sachs, etc. This stuff is priceless, because in the
past, you had to pay thousands of dollars to get these same tests tone. These
are accurate and very worthwhile ... but the majority of people will come back
with all negative results, which is actually a good thing.

2\. Your "increased risk" to certain diseases, like heart disease, etc. IMHO,
these aren't worth much. A substantial portion of the risk for these types of
diseases is related to lifestyle, so take it with a grain of salt.

3\. Fun info, like telling you your eye color, where your ancestors came from,
etc.

> why are their tests not being subsidized by insurance companies.

Insurance companies really only want #1. And guess what? That's info that I
_really_ don't want them to have.

~~~
sami36
Yes , but wouldn't Nbr 2 in itself be worth a lot if the patient would make
lifestyle changes in response to increased risks highlighted in their genetic
profile. Suppose you have a genetic proclivity for alcoholism, wouldn't most
people watch their consumption a lot more if provided with that information.

~~~
maratd
Let's go with your example. Let's say you have a 50% increased risk of
alcoholism than the average population.

What does that mean?

If the probability of alcoholism is the general population is 1% ... well,
that means yours is 1.5% ... or still ridiculously small.

Obviously those are just numbers I'm using to illustrate a point, but you see
where I'm going with this.

~~~
carbocation
While I agree with your general point, the lifetime prevalence of alcohol
dependence is rather high; it is estimated to be 12.5% [1].

1 = <http://www.ncbi.nlm.nih.gov/pubmed/17606817>

------
Rickasaurus
I paid in at their first $99 discounted rate (2010) and was very disappointed
when they tried to demand a non-discounted new sample for newer tests about a
year later. If I had paid the full $500 I would have been downright peeved.

Still, I'm glad I did it, 23andMe is a very enlightening experience. I even
found some distant relatives I never knew about.

~~~
tejaswiy
Honest question: Why would you need newer tests? Isn't your genetic code fixed
along with all the risks it implies?

~~~
timdorr
They are not mapping your full genome each time. They are looking at specific
genes that are known to be linked to certain conditions or attributes. When
they release a new test, they are sampling more genes and therefore can find
more potential conditions or attributes about you.

~~~
khomenko
They ran an exome sequencing pilot recently, so sequencing is certainly
coming.

------
DanBC
That's great. But I'm more interested in plans in the UK to get the entire
genotype from about 100,000 people (mostly cancer patients) for research.

(<http://www.bbc.co.uk/news/health-20663090>)

------
yread
Damn, I bought it 2 weeks ago!

They keep mentioning the benefits to science, but can you actually access
their database as an academic?

~~~
mietek
They offer refunds:

[https://customercare.23andme.com/entries/22605618-i-recently...](https://customercare.23andme.com/entries/22605618-i-recently-
purchased-a-kit-for-299-can-i-get-a-refund)

------
daeltar
International shipping cost is pretty prohibitive. Maybe time for lab in
Europe?

~~~
upinsmoke
Why is it so expensive to ship internationally?

~~~
a-priori
Probably clearing a biological sample through customs.

~~~
a_bonobo
It's also two packages in one - the first one to get the set to you, and the
package includes the shipping and package to ship the sample back to the US.

------
philip1209
Minor pet peeve: When I'm paying $100 for something, I prefer that shipping be
included in the price. It comes across as less of a premium service when the
advertised price doesn't include the full standard service.

------
PStamatiou
For those interested, I reviewed 23andMe when it first came out:
[http://paulstamatiou.com/review-23andme-dna-testing-for-
heal...](http://paulstamatiou.com/review-23andme-dna-testing-for-health-
disease-ancestry) (I always get a nice traffic spike whenever it goes on sale
--- I purchased it for some $500 back in the day)

~~~
himlion
I read that post a long time ago, it was very useful :).

------
PetrolMan
This is kind of funny to me because just yesterday I was talking with someone
who said he would be willing to try it if it cost around a $100 bucks.

~~~
staunch
We weren't talking but I said that yesterday as well :-)

------
desireco42
I signed up for their service few years ago, honestly didn't get any useful
info. My wife has genetic mutation that seriously affects her health, nothing
in their profile is even remotely indicating (that we could see).

Overall I am pretty disappointed with data I received from their service. For
example I supposedly have genes that make me risk for obesity, yet I was most
of my life very skinny and in recent years gain some weight because I thought
it wasn't healthy to be so skinny. So, I wonder what kind of useful into
others can get, when we can't even confirm basic info. I also believe (it was
a while ago) that color of our eyes was 'guessed' wrong'.

~~~
carbocation
That's not their fault; that's the fault of the state of genetic research.
(And of the fact that the heritability of any given trait is not 1.)

------
GregBuchholz
Anyone here take part in the Personal Genome Project, and care to share?

<http://www.personalgenomes.org/>

~~~
toomuchtodo
Yes.

<https://my.personalgenomes.org/profile/hu840B0B>

My brother:

<https://my.personalgenomes.org/profile/hu6A0E65>

Also, feel free to ask me to share my full 23andme profile (ancestry and
health) to anyone interested.

I was almost 23andme's infrastructure engineer two years ago until my father
came down with lung cancer and I had to decline the offer (would have had to
move across the country). Still a supporter/advocate of them though. (If you
read this Steve, thank you for the opportunity and being willing to take a
chance on me. It changed my life and career for the better).

------
joecackler
Blog's having trouble with the load; here's a direct link to the press
release: <https://www.23andme.com/about/press/12_11_2012/>

~~~
ash
Or use Coral cache: [http://blog.23andme.com.nyud.net/news/one-million-strong-
a-n...](http://blog.23andme.com.nyud.net/news/one-million-strong-a-note-
from-23andmes-anne-wojcicki/)

------
wmat
I really wish 23andme would merge with <http://www.familytreedna.com/>

I've done both, and to be honest, FamilyTreeDNA seems more comprehensive to
me.

~~~
shirederby
Would you mind expanding on this?

The genealogical data is one of the main things I'm looking for; 23AndMe has
been "OK" and AncestryDNA has just been a waste.

I'm wondering if it would be worthwhile to pay for a data import onto FTDNA.

------
thematt
Is there any way to go to a real doctor and get these tests done? It would be
very interesting information to have, but I don't trust a startup with it at
all.

~~~
debacle
Yes. It costs 10-20 times more, mind you.

------
cupcake-unicorn
Wow, looks like the announcement was pretty popular, I'm getting a 503!

Luckily I got in during the sneaky "price test" on Cyber Monday at 50 dollars,
so I'm good.

~~~
xspectre
At 50 dollars I would have been in right away. Too bad I missed out.

~~~
Joeri
Honestly though, to me it's strange that you pay them instead of the other way
around. It's clear that their primary source of revenue will be the R&D they
perform on the material obtained from you. It's a bit like a sperm bank that
charges money for deposits.

~~~
julien_c
Exactly

------
carbocation
With 1 million genotyped customers, they could probably start inferring the
genotypes of many non-customers with a modest probability.

------
ciferkey
Interesting! In the past if you made an account on their site and signed up
for the new letter (but never actually bought a test), after a while they
would send discount offers. The last one I received was $50 off, but the tota
l cost was still over $200. No I have no excuse (cost wise) not to try it.

------
gopi
How accurate are their results for non-caucasians especially non-mainstream
minorities like east indians?

------
Geee
Whole slew of startups should look into genetics. DNA sequencing is basically
the final frontier of digitalization of the world. Look what happened with
text and images, and it's now happening to everything living. Medicine is
going to change.

------
berito
Ok, all done. Ordered just now from london, never mind the 79 USD shipping
cost. Next I installed their iPhone app. Shocked to see that it's gamified.

------
josscrowcroft
I'm still just not sure I really want to know all these things... it's just
low-hanging fruit for any hypochondriac tendencies :/

But, fantastic nonetheless.

~~~
mediacrisis
I have the same concern, but having no family medical history (closed
adoption) makes the new price point rather tempting, despite the inevitable
anxiety.

------
stevewillows
Can this speak to anything regarding Aspergers?

~~~
DigitalJack
It can, but in the negative: [http://blog.23andme.com/health-traits/autism-
study-reveals-n...](http://blog.23andme.com/health-traits/autism-study-
reveals-no-genetic-associations/)

------
Mgccl
This is not available in New York due to state laws require them to have
certain license.

------
dococtopus
Just about bought one of these as a gift yesterday --- now definitely getting
one!

------
socratees
I just ordered mine today.

------
wolfparade
I'm still looking for a discount. I think I'd buy at $50.

------
juso
great news!

------
lwat
What's currently the cheapest way to get a full (99%+) sequencing done
privately?

