

A Letter I Will Probably Send To The FDA on 23andMe - AndrewDucker
http://slatestarcodex.com/2013/11/26/a-letter-i-will-probably-send-to-the-fda/

======
timr
_" There are several thousand papers about genetics, linking specific genes to
everything from eye color to intelligence to chance of developing colon
cancer. Some of these papers are no doubt correct, others will no doubt in
time be found incorrect. However, I worry you want 23andMe to independently
validate each of these results before informing customers about them."_

As they should. If they can't show that the associations they're reporting are
valid, what purpose does it serve to report them? That's the whole point. It's
not like drug regulation at all, because most of this stuff isn't settled
science (and hey, not for nothing...we _do_ test the effectiveness of the
antibiotics that get sold at your local pharmacy. A doctor should know that.)

Tell you what: send me your saliva and $80, and I'll write you up a _really
nice_ genetic report. It'll tell you all sorts of great stuff, _and_ it'll be
$20 cheaper than 23andMe. But don't try to force me to certify that I'm not
making everything up -- that would be stifling my innovation! After all, I'm
providing a cheap service. Disruption!

For a community that goes absolutely crazy with skepticism about every
scientific study (i.e. _" correlation! not cause!"_), there sure seems to be a
lot of credulity to go around on this issue.

~~~
Symmetry
Is your genetic lab certified by the CLIA[1]? 23andme's is and I don't think
anybody is arguing that they shouldn't be regulated as a genetics laboratory.
It's the FDA's decision to regulate them as a medical device that people think
is inappropriate.

[1][http://www.cms.gov/Regulations-and-
Guidance/Legislation/CLIA...](http://www.cms.gov/Regulations-and-
Guidance/Legislation/CLIA/index.html?redirect=/clia/)

~~~
timr
Read the letter from the FDA. That's not what they're doing at all. They're
requiring a company that sells a direct-to-consumer medical test to certify
the safety and validity of that test. I don't think anyone is concerned that
they're cross-contaminating their samples or working in a filthy lab over at
23andMe -- they're concerned that the whole design of the test is broken.

Again, most of this stuff is sketchy science. You can do the microarray
experiments in a proper (e.g. "CLIA certified") lab, and still have a useless,
dangerously misleading test.

------
refurb
23andMe has two choices:

1) Stop making health claims about their service 2) Produce the evidence
required to substantiate their health claims

The FDA has very high standards when it comes to health claims, see the
Warning Letter for Cheerios:
[http://www.fda.gov/iceci/enforcementactions/warningletters/u...](http://www.fda.gov/iceci/enforcementactions/warningletters/ucm162943.htm)

Fiber can help lower cholesterol. Cheerios have fiber, thus why not make the
claim that Cheerios can help lower your cholesterol?

The FDA is not big on "extrapolation". If B causes C and your product A causes
B, you can't claim it also causes C.

How did General Mills respond? The simply modified their claims:

 _3 grams of soluble fiber daily from whole grain oat foods, like Cheerios and
Honey Nut Cheerios, in a diet low in saturated fat and cholesterol, may reduce
the risk of heart disease._

~~~
Zigurd
Processed food vendors get away with some pretty awful stuff, like Vitamin
Water claiming their customers couldn't possibly confuse their product with
something healthy.

~~~
refurb
The FDA can't be everywhere, but Coca-Cola (makers of Vitamin Water) got a
Warning Letter from the FDA back in 2008 over their health claims for diet
Coke!

[http://www.fda.gov/ICECI/EnforcementActions/WarningLetters/2...](http://www.fda.gov/ICECI/EnforcementActions/WarningLetters/2008/ucm1048050.htm)

~~~
Zigurd
I missed the part where they took it off the market.

~~~
refurb
They didn't have to, Coca-Cola did a quick 180 and stopped making the health
claims.

~~~
Zigurd
Uh, "Vitamin Water(tm)" isn't a health claim? I was not making it up: Coke
argued that nobody would mistake a product called "Vitamin Water," that is, in
fact, colored HFCS-water, for something healthy. That's a bit more dubious
than selling you a cheap genetic test.

------
Shinkei
Physician here. (Disclosure: I have no financial interest in this or any
related company.) (Edited out some 'heated' remarks)

Medicine is NOT, I repeat, NOT 'hard' science. Most of the 'normal' lab values
we use when reporting things like elevated white blood cell count, anemia,
etc. are based on population studies with the average considered normal and
setting extremes as 'abnormal.' You will find that different hospitals even
have different values of abnormal. Not to mention, for cutting edge therapies
(Oncology, I'm looking at you) there is no 'standard' of care and there is a
high variability between physicians. My point is that, I could go on and on
about how much the field of Medicine is subject to the vagaries of stuff like
regional practice, academic pedigree ("Oh, we at Hopkins always do it this
way, but Mass Gen does it that way."), as well as bias like anecdotal evidence
(the plural of anecdote is NOT data!) or just plain mis- or dated information.
If you are out of med school/training for only a couple years, the amount of
new therapies, lab tests, etc. can be staggering and if physicians aren't
learning about the new, then they quickly become dated.

So, what am I saying? The FDA is holding 23andMe to an unreasonable standard.
If your doctor saw the same test results, they might tell you the exact same
correlation (oh, you are predisposed to Alzheimer's or Parkinson's). Tests are
incredibly complex... I mean we still don't have a perfect pregnancy test!
Again, there is sensitivity, specificity, with false positives and false
negatives. If you are unfamiliar with how inaccurate medical tests can be,
please read up on some of those items. This is the best we've got for now. If
people can order pregnancy and HIV tests over the internet, there's no reason
they shouldn't be able to find out they 'might' have a predisposition to high
blood pressure. I would argue 23andMe is not doing something so radical... as
far as I'm concerned, pregnancy and HIV tests should NOT be over the counter
if we are going to limit genetic screens because there is a LOT of work to be
done in positives of either.

Unconvinced? Well consider this. Over the counter Tylenol products are
responsible for about 500 deaths per year in the US. Do you believe that
Tylenol should be prescription only just because a minority of consumers make
mistakes? If not, then you must conclude that over the counter sales of
23andMe should be allowed unless the FDA can show it has ACTUALLY harmed
people.

[http://www.mercurynews.com/business/ci_23974801/tylenol-
warn...](http://www.mercurynews.com/business/ci_23974801/tylenol-warn-users-
potentially-fatal-overdose-risk)

~~~
FireBeyond
You seem to completely miss the point, however - the FDA is asking (telling)
23andMe that they need to provide the documentation of the efficacy of their
testing process. Accuracy and margin for errors, and NOT, as you seem to be
implying, “forbidding the use of such a service unless accuracy can be
guaranteed”.

Yes, 23andMe makes claims, and uses phrases like “likely”, “most often”, and
so on. The FDA is asking to be provided the evidence that such statements are
accurate, or how accurate they are.

~~~
Shinkei
Check their webpage:

[https://www.23andme.com/health/all/](https://www.23andme.com/health/all/)

Under each item, there is an extensive explanation including the technical
report regarding the exact details of what is being tested with citations.

This is the list of FDA approved 'genetic' tests:

[http://www.fda.gov/MedicalDevices/ProductsandMedicalProcedur...](http://www.fda.gov/MedicalDevices/ProductsandMedicalProcedures/InVitroDiagnostics/ucm330711.htm)

It's a sad mismatch between practice and regulation. Industry is WAY ahead of
regulation. Very common tests performed by Clinical Geneticists are not
included in this list. Yes, they will give you the disclaimer, but the data is
there.

------
moioci
Dear Ms. Turnipseed, As you are no doubt aware, you recently assigned young
Snidely a grade of "F" for the assigned paper on Richard I due some 6 months
ago. I concede that he did not, in fact, produce such a paper and acknowledge
that you offered to work with him outside of class on several occasions. But,
as you must agree, he has attended class faithfully, has taken copious notes,
and has even been in the library on more than one occasion. Clearly, his
chosen topic, "Richard I: Lion Heart or Lily Liver," promises a worthwhile
exploration of an important subject. I'm sure you will agree that, had he laid
pen to paper (or digits to keyboard), he could have produced a more than
adequate paper. Accordingly, I insist you assign him full marks forthwith.

Sincerely etc. etc, Snidely, Sr.

------
md2be
23andMe didn't need to make medical statements to get most of the early
adopters on board. Lets face it they made a dumb decision to do so.

~~~
masklinn
And then they made a dumber decision by stonewalling the FDA.

------
iand
Probably premature since it appears that 23andme ignored the FDA for six
months.

------
apaprocki
For the more technical customer of 23andMe, there probably isn't a need to do
all of the interpretation themselves. There are tools which will take the raw
data and query public databases to build together a similar (and sometimes
more up-to-date picture). I don't think the FDA would want to shut down
something like SNPedia.

But, there is a lack of quality tools available to query public genomic
databases based upon raw data received from services like 23andMe. If anyone
is a 23andMe customer, try out Promethease[1]. There is probably room for
selling software to DNA service customers, but it probably isn't that big of a
market (yet?).

An example, well-designed tool for viewing raw data files is 4Peaks[2].

[1]:
[http://snpedia.com/index.php/Promethease](http://snpedia.com/index.php/Promethease)

[2]:
[http://nucleobytes.com/index.php/4peaks](http://nucleobytes.com/index.php/4peaks)

~~~
tgb
Having never heard of SNPedia before yesterday and still not being sure of
it's correct pronunciation, I have no recourse but to say it as "tinpedia."

~~~
bronbron
More likely SNP stands for single nucleotide polymorphism, usually pronounced
"snip", so "snipedia" is probably more apt.

Or maybe I'm totally wrong.

------
jaynos
"Many of my colleagues do not know of the existence of personal genomics, and
believe that genetic testing is a once-in-a-blue-moon procedure to be ordered
only when there is high clinical suspicion for a rare disease such as cystic
fibrosis."

If true, that is quite embarrassing to the medical community.

------
fedups
> _However, I worry you want 23andMe to independently validate each of these
> results before informing customers about them. Worse still would be a demand
> that the company validate the results_ with its specific testing kit _. It
> would be cost-prohibitive even for a single company like 23andMe. It would
> destroy any possibility of competition; even if one company did it, new
> startups would not be able to._

Looks like a case of the FDA doing what it does best--ensuring the task of
medical innovation remains with big pharma, and leaving Americans stunned at
the results.

~~~
tokenadult
23andMe has plenty of money behind it through its investors. 23andMe has been
trying to play the game of Big Supp (the "natural supplements" industry, which
has billions of dollars of revenue) by trying to imply health claims that it
can't back up with evidence. That's nice work if you can get it, but 23andMe
doesn't have the same sweeping exemption from regulation that "natural
supplement" makers have.

[http://www.sciencebasedmedicine.org/new-concerns-about-
the-s...](http://www.sciencebasedmedicine.org/new-concerns-about-the-safety-
and-quality-of-herbal-supplements/)

------
waxy
Is it just me who thinks this sounds more like an ad for 23andme?

------
jlanter
Has it occurred to anyone else that 23andMe is possibly playing a PR game
here? I find it hard to believe that they and their lawyers thought they could
ignore the FDA for months. I never heard of the company before yesterday and
now I'm seeing them everywhere.

~~~
dublinben
They've been a well known company for several years. I don't think this kind
of publicity helps them very much, since they're specifically banned from
selling their product at the moment.

------
RankingMember
You're a doctor without a primary care provider? Why/what?

------
AsymetricCom
What kind of doctor would write such an irresponsible letter? Oh...

 _But the alternative is banning all information that anyone could possibly
use to evaluate their own health._

stopped reading there.

