
23andMe Granted FDA Authorization for Genetic Test on Cancer Risk - chmaynard
https://mediacenter.23andme.com/press-releases/23andme-granted-first-fda-authorization-direct-consumer-genetic-test-cancer-risk/
======
stochastic_monk
I spent years working for a company which performed genetic testing for a
variety of conditions, germline and somatic (IE, cancer).

Internally, the results we accumulated were only used for providing diagnoses,
estimating population frequencies, and writing papers.

Other companies, however, like Guardant Health and Foundation One, initially
provided inexpensive or free tests in order to build enormous patient data
stores and were then bought by large pharmaceutical companies primarily for
this data.

In the end, the patients were the product, and the cheap/discounted tests were
overhead cost in taking advantage of these people. I do not know where these
companies are now, but my distaste for the industry was a large part of why
I've chosen a different field of research.

~~~
joering2
Bingo! You just described 23andme, Anchestry and some others.

Fun fact: you can't make any reasonable profit off of sequencing human DNA at
$49 per pop. Its just won't happen. Maybe with technology in iPhone250 in year
3560, but sorry not today.

Back in a day when I was a Noogler, I had interesing conversation on data
scraping and purity of infornation in DNA sequencing database. Basically I was
explain it will eventually be sold to insurance companies so that they could
estimate your premiums better based on probability of your future diseases. As
you can imagine that's a gold mine for any large or mid health insurance
provider out there. I was also explained how data verofication makes sure of
consistency; for example, if male order a kit (via credit card [prepaids dont
work bc they cant know your identity]) but result came as female, such result
would not be marked as purity and never sold. There are many other checks and
balances, but you get the point.

Bottom line: if you want to get the kit and test your DNA out of fun, at least
make sure your identity is not obvious.

~~~
justonepost
The Genetic Information Nondiscrimination Act (GINA) prohibits the use of
genetic information to determine health insurance eligibility or premium

~~~
maxerickson
Which is not really an ironclad guarantee it won't happen (I'm thinking in
terms of the law being modified or repealed, not in terms of companies
ignoring it).

But the solution to the insurance problem is pretty obviously at the societal
level. Once the testing is cheap enough, if they are allowed to, companies
will just refuse carriage to people that won't submit the DNA (well, assuming
that DNA profiling provides meaningful pricing information).

~~~
Eridrus
I don't think repeal of GINA is remotely likely, just look at the political
discussion about pre-existing conditions on both sides of the aisle, there is
no appetite for having companies accurately price insurance.

I think the fact that health insurance premiums are the #1 thing brought up in
privacy discussions is basically evidence of the fact that we all know that
insurance is a bad model for healthcare, but we can't bear to socialize it
yet.

------
benwilber0
I've never done one of these genetic tests. Partly because it's scary to me to
learn what diseases I'm likely to get as I get older, but also I just don't
want that information in some else's database. We're very fearful of what
Google and Facebook already knows about us now imagine they buy 23andMe and
then join all their data about you with your DNA (which you've already
willingly given up and allowed them to "profile".

Google/Facebook user behavioral data + their users' _DNA_ is about as scary
invasive as it gets.

~~~
cromwellian
On the other side of this, if massive databases of DNA and medical histories
were accumulated, it's possible a great amount of human suffering and harm
could be solved by aggressively mining this data to find out the connection
between DNA and various diseases.

I mean, besides being denied health insurance because of what someone might
find in your DNA, why are you so afraid of something even having your DNA,
because it might result in GATACA-like society? If so, we need strong legal
protections against discrimination by DNA, but we can't throw out the baby
with the bathwater.

There's too much good that can be done to human wealth and welfare by
eradicating disease and paranoia about theoretical danger should be challenged
into laws to protect against discrimination.

What do you think Facebook + DNA is going to do to harm you? Try to sell you a
pharmaceutical or medical treatment? A cure for balding or erectile
disfunction?

~~~
benwilber0
People already post their 23andMe "results" on their dating profiles to say
"I'm clean and healthy with good genetics!"

The GATTACA society is rapidly becoming reality, just not institutionalized
yet.

~~~
Ultimatt
Great. Maybe we will have less cystic fibrosis in the world. Not sure many
people would argue they would be keen for their children to inherit that.
There is a big difference between knowing you naturally are a carrier of a
disease, and acting on that info, and then manipulating radically and
arbitrarily the genetics of humanity. Regulation internationally is fairly
clear, sifting out incredibly debilitating disease is going to be ok. Making
your children more aryan looking, not so much. Now if only they posted a
recent STI panel result too.

~~~
StavrosK
You'd be fine with someone not finding a partner because they have a chance
that their child would carry a disease? Something like "I cannot find a
husband because my child will have a 5% chance of cystic fibrosis, so nobody
will go for me".

~~~
DoreenMichele
That isn't remotely how that works. There is no circumstance whatsoever where
your child has a 5 percent chance of having CF.

CF is a homozygous recessive disorder. Both parents have to contribute a
defective gene in order for the child to have CF. If one parent is a carrier
and the other is not, there is zero chance of the child having CF, barring
random mutations which have been known to happen. If both parents are
carriers, there is a 50 percent chance the child will be a carrier, a 25
percent chance the child will have no defective genes and a 25 percent chance
the child will have CF.

If you actually have CF, you have two defective genes and you can only produce
children who are either carriers or who have CF, depending on the genes
contributed by the other parent. If the other parent is not a carrier, the
children cannot have CF.

As someone who both has CF and has raised a child with it, I absolutely do not
want more children with CF. It's a horrible burden for the parents and only a
deeply sick sadist would wish such a thing upon their child.

I have never lacked for male interest. I don't know why the hell that is
because I'm quite open about my medical situation. I am now menopausal, so it
is a moot point. But I absolutely spent some years agonizing over how to
screen out CF carriers from the dating pool. Having another child with CF is
one of my worst nightmares. I would rather be taken out and shot.

~~~
StavrosK
Sure, that's for CF, but my question still stands for all the other heritable
diseases.

~~~
DoreenMichele
Uh, no. All other heritable diseases are either homozygous recessive or they
are passed via a single dominant gene. In neither case is there a 5 percent
chance of passing it on. All recessive disorders follow the exact same math
outlined above.

This is genetics 101.

~~~
ddorian43
I think I've read it's for bipolar:10% if only father, 50% if both parents.

~~~
DoreenMichele
And I am guessing that's not a case where they have identified specific genes.
Please correct me if I am wrong. But I am not aware of bipolar genes being a
thing.

There is a difference between hand wavy "runs in the family, but we don't
really know how it works" and a bona fide genetic disorder whose alleles have
been mapped to some degree or another.

Edit: To be perfectly clear, if it is not genetic and merely tends to run in
families, it may be due to a variety of nongenetic factors, such as diet and
lifestyle. Smoking also tends to run in families. Smoking is not a genetic
disorder, though it significantly impacts health.

If it is not genetic, it's heritability is not going to show up on your 23 and
me profile. Fretting that it will basically means you don't know what you are
talking about.

~~~
ddorian43
You are right, no genes. They are doing a study for depression + bipolar:
[https://www.23andme.com/depression-
bipolar/](https://www.23andme.com/depression-bipolar/)

~~~
DoreenMichele
There is a disease that was thought to be genetic, but was ultimately traced
to ritual cannibalism spreading an infection. Relatives would eat the dead and
what body part you got depended upon how closely related you were. This caused
the disease to very much mimic a genetic disorder in its pattern of dispersal
throughout the family.

"Runs in families" needs to be very clearly distinguished from genetic
disorders per se. The former suggests correlation with an as yet unidentified
cause or causes, as there may be various contributing factors. The latter is a
case of identified cause.

Easy enough to confuse if your own life does not depend upon it, but
absolutely not the same thing.

------
Gatsky
Here's my view on this:

This doesn't test the full gene sequence, only a few SNPs. Say someone does
the test, and it comes back positive. They then call all their relatives.
Those relatives have the choice of getting the same test done with 23andMe, or
seeing their doctor. Usually proper BRCA gene tests are only reimbursed under
certain circumstances, so mostly the relative will have to pay at least $500
to get tested properly. Most of them will just go to 23andMe. The growth in
testing because of this effect is going to be significant. All the hard work
of doing this kind of testing eg counselling, detailed family pedigrees,
contacting family members, discussion of pros/cons of testing etc is being put
back onto the individual and their healthcare providers. Good for 23andMe I
guess, especially since their value seems tied to how much data they have.
Whether this is net beneficial to society I'm not so sure.

~~~
dalbasal
If you are thinking of macro-societal impact... I think you have to ignore the
specifics of this particular test and think of the impact of these _sorts_ of
test on medicine, culturally.

For example, there's a sort of Principe in medicine that you shouldn't order
tests unless you will action treatments based on results. For example, if you
detect a risk of breast cancer that can only be avoided by mamosectamy, only
do the test if you're willing to to the procedure. Otherwise, all you have is
a more stressed out patient. Data gathering is totally different in medicine
for such reasons.

The big, relevant exception is cancer, where a statistical, risk estimating
approach is commonplace.

In any case, genetic testing (and other ambient data gathering) may give us
good reasons to change this approach. It's a transition and taking a step from
toy to medicine (this is what 23andme is doing) is en route to such a change.
What could emerge downstream is personalized cancer screening protocols. Maybe
you should start getting colonoscopies at age 20 and I should start at 60.

~~~
Gatsky
(Disclaimer: I'm an oncologist)

There is definitely a science of designing and performing useful diagnostic
tests. I have seen many cases of illogical or misinformed testing that has
harmed patients physically, psychologically and financially. I ultimately
believe that more information is better, however, so far the transition to
more direct consumer testing is failing miserably (eg Theranos, or all the
companies claiming SNPs can help design dverything ftom skin care to exercise
regimens). Then there are just crackpots who coerce vulnerable patients into
expensive and totally unproven, never-to-be validated tests that cost
thousands of dollars.

------
stillworks
I haven't read through the T&Cs at 23andMe, but can this data be cross
referred to (bought by) by insurance companies to quote me an insurance price
depending on the outcome of 23andMe analysis ?

Or even by mortgage providers for that matter ? Or potential employers ?

------
m3kw9
They probably will partner up with insurance company’s and will provide
discounts if you take this test as part of your physical. And increase it if
you don’t or start at a higher price for all products that the client doesn’t
take the test. Yeah it’s gonna come to that

~~~
dragonwriter
> They probably will partner up with insurance company’s and will provide
> discounts if you take this test as part of your physical. And increase it if
> you don’t or start at a higher price for all products that the client
> doesn’t take the test. Yeah it’s gonna come to that

Even if they could do that [0], once you (and presumably _they_ ) get the
results they can't discriminate based on them due to the Genetic Information
Nondiscrimination Act of 2008, so there is very little incentive for them to
pressure you to take the test.

[0] They can't, AFAICT, also because of the GNA, though employer-sponsored
insurance might be able to back door something similar through a voluntary
employer-based wellness program nominally separate from insurance.

------
forapurpose
If the current FCC approved something, I wouldn't assume that it was approved
on its merits. Is the FDA better? An honest question; I don't know much about
its current performance or composition, but it's under the same political
control as the FCC.

~~~
aaavl2821
I don't know much about the FCC other than reading about net neutrality, but
my answer would be probably yes.

For all its faults, FDA is pretty good all things considered, especially
considering the lack of resources they have to do their job. The reviewers are
often helpful and the conversations are very scientifically focused and
objective. There are many controls within FDA to prevent corruption or
outsiders to influence policy.

That said, ive been involved with some decisions where FDA has clearly made
questionable decisions that have set back innovation for no good reason. There
are also many lobbyists pleading their case to FDA, but congress has very
limited power to influence in most cases other than by writing laws (which i
think is as it should be)

Many companies that complain about fDA simply havent done their homework or
are pushing shoddy science

~~~
ianseyer
While I respect the FDAs intentions and notable positive actions, I would like
to present several articles from reputable sources describing the FDA as a
"revolving door" for various industries - an obvious inlet for corruption,
dubious research, delayed actions, etc. As I understand it, this is a well
known issue.

I believe it is important to be vigilant and critical when it comes to three
letter acronyms.

[https://www.npr.org/sections/health-
shots/2016/09/28/4956945...](https://www.npr.org/sections/health-
shots/2016/09/28/495694559/a-look-at-how-the-revolving-door-spins-from-fda-to-
industry)

[https://www.washingtonpost.com/investigations/senators-
call-...](https://www.washingtonpost.com/investigations/senators-call-for-
crack-down-on-pharmaceutical-industry-revolving-
door/2017/11/02/d0c3e6a2-bf34-11e7-959c-fe2b598d8c00_story.html)

[https://www.vox.com/2016/9/28/13059538/fda-drug-
regulation-r...](https://www.vox.com/2016/9/28/13059538/fda-drug-regulation-
revolving-door)

[http://www.modernhealthcare.com/article/20160927/NEWS/160929...](http://www.modernhealthcare.com/article/20160927/NEWS/160929902)

~~~
aaavl2821
That is fair and skepticism is warranted. A lot of those links point to one
study by vinay prasad, who has a reputation as something of an alarmist. Just
want to make sure people don't take that study to definitively claim a trend
where none may exisr

~~~
ianseyer
While you may be right about Vinay Prasad being an alarmist (I have no idea),
the second article is actually based on a bill written by 7 senators with
(seemingly) no relation to Vinay's work.

------
BurningFrog
23andMe reported this gene in 2013. Then the FDA forbade the reporting. Now
they're allowed to report it.

What changed?

~~~
randomname2
A new administration, including a new FDA Commissioner (Scott Gottlieb) is one

------
thegeomaster
Unfortunately, it seems that you're out of luck if you're outside of the US,
but you do get the raw data regardless.

Is there a tool which can help analyze this raw data? If not, I think it would
be beneficial to create one, but I imagine this might be hard. Does anyone
know how difficult it is to programatically test the genome, as 23andMe
provides it, for various genetic disease risks? Is research on this easily
available? Would a person need a significant know-how in the field, or can
this be done by someone after a reasonable amount of reading on the subject?

~~~
jgrowl
geneticgenie.org analyzes your 23andme data. You can upload raw data or just
link your 23andme with oauth. It might be more narrow in scope than what you
had in mind since it is primarily used to generate a methylation and detox
profile. I used it primarily to determine if I had a MTFHR mutation but it was
helpful since it showed other potential issues with my methylation system.

I don't know how hard it would be to programmatically do, but if geneticgenie
is any proof, it can be done.

------
retox
Did they ever come out and repute this article about faking results for
"racists"? Yes, it's on cracked but many a true word was spoken in jest.

[http://www.cracked.com/personal-experiences-2522-inside-
shad...](http://www.cracked.com/personal-experiences-2522-inside-shady-world-
dna-testing-companies.html)

------
aaavl2821
I wonder how this stacks up vs other BRCA tests in terms of performance and
coverage of common variants. And also whether it is cheaper to use their DTC
test rather than going to a doctor and getting insurance to cover the test? I
assume this is not a sequencing based test?

~~~
chrisamiller
It's a SNP chip and only covers a few common mutations.

To anyone who wants to know for sure whether you're at increased risk of
breast cancer, you'll want to get a test that sequences _all_ the known
mutations, along with another half-dozen or so genes that can have essentially
the same effect as a damaging mutation in BRCA. I'd also urge you to find a
genetic counselor, who can help explain the diagnosis in detail, as well as
the limitations of the each kind of test.

~~~
marchenko
Additionally, many harmful mutations are essentially "private" within a family
and do not inform any of the GWASs used to create these SNAP chips. Regional
sequencing is still important for persons with a family history of illness.

------
2bitencryption
so if I already did a 23andMe hereditary analysis, do I need to pony up more
if I want them to reveal more about myself?

~~~
lxchase
What I did a while back is download the raw data and run it through
[https://promethease.com/](https://promethease.com/). Will tell you a lot more
about risks, drug interactions. What it does is it compares your data to that
of all the journal papers and research around that gene. Interestingly I have
a SNP that is correlated with lack of empathy and another one that is the
"warrior" gene. The BRCA SNPs would be identified.

~~~
chrisamiller
I'd urge you to be cautious when interpreting those data. The effect size of
most of these SNPs is tiny, often explaining (at most) only very small amounts
of the variability observed between groups. This is especially true for things
like personality traits, which have a _huge_ environmental component.

So, if finding out the empathy thing is fun, then by all means, keep poking
around in your data! Promethease is probably the best of the bunch, and I've
run my data through it. Just be mindful of the evidence level and effect size!

~~~
lxchase
Yes, this is a good note for anyone interested in doing this. Other things to
keep in mind, the paper source, while may be peer reviewed, most likely was
not reproduced (a problem in the industry in general), so would be prudent to
filter on # of publications supporting the SNP correlation. Also, the report
will tell you relative risk, not absolute (e.g. 1.5x increased risk of getting
breast cancer). In other words, your absolute risk may be 0.00001, so it can
easily be 8x and it won't really matter. The most actionable items I've found
for me personally were drug interactions due to genetics. Thanks for bringing
up the caveats.

~~~
tudorw
l'll second that, drug drug interactions and genetics is an under learned
topic in the UK, I know that because my GP borrowed my book, 'Clinical Manual
of Drug Interaction Principles for Medical Practice' :)

------
tyingq
Hmm. How long before health insurers use this to, uh, "personalize" rates?
Note that many have wellness programs that incent employees to present blood
samples.

