
Interview with the founders of 23andMe - jmorin007
http://pimm.wordpress.com/2007/11/18/the-new-faces-of-silicon-valley-biotech-savvy-co-founders-avey-wojcicki/#comment-52881
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apathy
This company bothers me immensely. They take your $1000 and a buccal swab, and
run it against an 550K SNP chip (beadarray, actually). That's all. The data
which is generated effectively tells you what base your cellular DNA has at
points along the genome where humans are highly divergent (these points, SNPs
for Single Nucleotide Polymorphisms, tend to be passed from generation to
generation in blocks which are resistant to breaking up during recombination;
therefore, they reveal a lot about a person's ancestry, and the combinations
of blocks present can predict some types of disease risk). It _sounds_ cool;
I'm not so sure that it's the best place to spend $1000 at this point in time,
but hey -- SHINEY!!1 People will probably do what they're told and burn some
cash on it.

This is all well and good, I suppose. You have a service of fairly dubious
utility being offered, to a bunch of people who likely overestimate its
utility. In other words, it's just like any other service in that respect.
Maybe less useful than most. (edited to remove erroneous Affy/Illumina
references -- with that sort of an error, you better not regard any of the
rest of this post as definitive either!)

What sucks, in my mind, about this situation is that the company doesn't seem
to be driving any real innovation. Right now, you can have your genome run
against a dense panel of SNP markers, and find out what it contains at swab
time. That's non-exhaustive, but statistically it barely matters because if
you have major new mutations in conserved genes, you're probably dead. Most
such mutations are fatal. The ones that aren't continue to be passed around as
time goes on. But there are a number of other influences on the way your body
ages, gets diseases (or doesn't), passes diseases on (or doesn't), and so on,
which we DO know about. First off is epigenetic influences such as whether
some of the cytosine bases are decorated with methyl groups. If 23andMe has
any intention of offering new scans as the methylation chips become more
useful, they're not telling. It will be some time before the success of
genome-wide association scans, such as the successful efforts to locate SNPs
and SNP (haplotype) blocks which put a person and their offspring at high risk
for Crohn's colitis, is wide-spread enough that the genetic information is
useful to the average person. The epigenetic and environmental information
carried in a person's cells, and the interaction effects of all 3? Could be
decades in the most optimistic case. If you think brute-force computational
power will solve that, let me know how your protein folding programs are
doing. Brute force CPU power was supposed to solve that, too.

Meanwhile, companies like Helicos and Pacific Biosystems are producing
technology to cheaply and completely resequence a genome using whole-genome
amplification from small samples. They're getting smacked around by the bear
market in biotech, but if they succeed, and it looks like they will, then
instead of a panel of 1000K SNPs, you'd get ALL of the information in a
snapshot of your genome. All 3 billion bases, maternal and paternally derived
copies -- remember, you can have different maternal and paternal alleles --
which means all the repeats, microsatellites, and other bits that the SNP
chips don't get. (There are plenty of other gotchas as well -- but this is
getting really long and I'm not in a mood to edit)

About the use of the word ''snapshot'' -- it's because cellular DNA appears to
change in response to cellular RNA manipulation. Tom Cech won the Nobel prize
for showing that RNA by itself could store, manipulate, and transmit
information at a cellular level. More and more, it's appearing that RNA is
actually running the show even in the presence of DNA, and DNA is more like
short-term storage for the transient instructions from the RNA. So the DNA,
rather than being static, is not just getting methylated and wrapped into
bundles, but literally changed on the fly. (If the preceding story is correct
-- which no one seems to know)

So what they're assembling at 23andMe is a big tissue bank, a collection of
mailed-in buccal swabs, and they're offering the (IMHO, dubious) service of
guiding you through that information. There are some useful things you can
learn from your genome even now. If you and your spouse have certain mutations
-- say, you're both carriers for Tay-Sachs -- then you know right off the bat
that 25% of your children are likely to have the disease. If you have certain
variations in, for example, _TCF7L2_ (see
[http://www.nature.com/nature/journal/v445/n7130/full/nature0...](http://www.nature.com/nature/journal/v445/n7130/full/nature05616.html))
your risk of type II diabetes is increased (though this is not nearly as
conclusive as studies such as those for Crohn's). But most diseases aren't as
simple genetically as Tay-Sachs or cystic fibrosis. Most are complex,
apparently the product of environmental, genetic, and ''other'' influences. So
what you are _NOT_ going to find out definitively is what treatments you might
respond to, _WHETHER_ you are more likely to die of colon cancer than anything
else... not solely from 23andMe. Not at this point, when there is a very great
deal of uncertainty even within the statistical genetics community as to the
overall utility of many of these expensive genome-wide association studies.
Are they producing results? Fuck yeah! Are those results directly translating
into cures or treatments? Uh...

If the current perception is correct, and RNA + environmental/epigenetic
influences are in fact changing the genome on-the-fly, then a tissue bank that
can re-run the snapshot you sent in (as a buccal, aka cheek, swap) against
newer technologies may be of limited utility. The inherent utility is, in that
scenario, delivered by the newer technology, and the expertise to run a 'hot'
scan on affected, unaffected, or potentially-affected individuals at a
particular point in time.

It's unclear to me how their infrastructure could help with this final item,
and for all of Brin's wealth, I still don't see them bringing humanity closer
to that point. The information could hurt you, by making you uninsurable, but
I can't see a snapshot of potential risks helping people the way that newer
technologies offering time-lapse snapshots of a person's genome may. That's
why it bugs me.

Had to get that off my chest, I guess.

JMHO.

~~~
greendestiny
I'm not sure your anger is well placed. 23andme gets an undue amount of
attention so it's natural to feel frustrated by the media hype. But 23andme
aren't (at this stage) lying to customers about what it does, and I'm pretty
sure most customers will be interested in the knowledge not simply the
utility. Also ruling out strongly genetic diseases is probably quite
interesting to a lot of people, regardless of how useful it is in a public
health sense.

Most likely their initial scan procedure isn't of great utility but does set
up a market for people based on their genetics. A whole realm of industries
could spring up which could be very interesting. I don't know why you think
its 23andme's job to carry the entirety of biotech research, but if no one can
make any money from personal genetics until we know everything there is to
know about the genome then I doubt we'll advance the field at a great pace.

~~~
apathy
It's not their responsibility to do much of anything. But they're uniquely
well positioned to push a lot of these things along, and it's a bit
disappointing that they opt not to.

Plus, selling genomic information from your customers, in aggregate or not, is
a rather evil thing to do given the potential for misuse. Hopefully there will
not be any phenotypic information provided, but if they somehow manage to run
out of money, who knows? Not all phenotypes require a whole organism, as I'm
sure you know.

Also, I'm not saying "wait until we know everything there is to know". I'm
saying "let's not go off half-cocked -- didn't we learn anything from the
schizophrenia 'gene' study?". I am more than a little concerned about this.

~~~
greendestiny
Selling the information along is another thing, I'm just responding to your
comment I'm not saying 23andme are a great company.

I've noticed myself that when I know a bit about an area, its easy to look at
a particular company and see how far behind the research they are. 23andme are
trying to take genome sequencing and give it to the masses. Is it very useful?
probably not, but they are trying to hit a consumer price point - so doing a
whole bunch of original research on genome sequencing, or making a sequencing
chip of their own just isn't practical.

A lot of Brin's money is and no doubt will go to good causes, but this isn't
suppose to be a charity. Even if it doesn't take off, it's likely to be a
positive thing for the personal genome industry not a negative.

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kirubakaran
This is an email conversation I had with the company:

<http://kirubakaran.blogspot.com/2007/12/introspection.html>

~~~
rms
They certainly benefit from people that think this is whole genome
sequencing... the media tends to confuse the issue.

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run4yourlives
It's $1000 dollars for a kit? Seriously?

Wow. Up until that it looked kinda interesting.

~~~
mwerty
People generally shell out a lot more than that for many tests.

I thought it was pretty cool. The only reason I'm not paying is that they do
not seem to have a service to keep my info updated based on new discoveries.

~~~
timr
Yeah, but there's a reason that traditional genetic tests are expensive:
they're carefully developed, calibrated and tested to tell you something
reliable about a specific gene or condition (they're also usually FDA-
regulated, and therefore subject to clinical trials. This is not a trivial
expense. It also happens to be an expense that 23andMe has bypassed.)

If a regular genetic test is equivalent to obtaining the contents of a single
page in a very large book, what 23andMe is doing is closer to quickly skimming
the index. It's cheaper to do on a large scale, but much less detailed. It's
therefore a vanity expense, which has to affect the price point.

~~~
rms
23andme's test is decidedly non clinical and decidedly non FDA approved.

~~~
timr
Yup. That's part of the reason why it's a vanity expense (I edited my comment
to be more clear.)

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rokhayakebe
which one is Sergey Brin wife?

~~~
aston
Brunette.

