
FDA Authorizes Ten 23andme Genetic Health Risk Reports - checkoutmygenes
https://blog.23andme.com/news/good-news-about-health-reports/
======
butisaidsudo
> For several years, 23andMe has worked on demonstrating that its reports are
> easy to understand and analytically valid...

I guess these are different reports, but I know a genetic counsellor who
describes 23andMe's carrier screening tests as "the bane of their existence".
Those reports seem not-so-easy to understand based on the patients she sees.

One problem is that they warn that your offspring are at high risk for some
condition, when really "high risk" means 0.5% higher risk than the general
population. The other is that they may say you are not a carrier for a certain
condition, when they only test for one variant of it, where proper tests will
test for multiple variants. They can both scare and soothe irresponsibly.

~~~
peteretep
Yah. I've got a 50% chance of having Huntington's. When my parent was first
diagnosed with it, me + all siblings were immediately going to get screened.
Half of us actually booked to get the test done. But we later cancelled our
screenings, and we're all now rather we didn't know.

As I understand, genetic counselling in the case of HD is people telling you
over and over again not to get tested. One of the constraints on fertility
treatment if you're at risk is that you can't have any procedure that removes
the potential baby's right to choose whether or not to be screened.

But in summary:

I've decided (having thought I definitely wanted to know) not to get tested.
I'm glad there wasn't a button on 23andMe I could just click to find out. It's
a complicated decision, should require some thought, and has life-changing
consequences. While I'm strongly pro-choice, I also don't think 7-11 should be
selling abortifacient drugs -- just because technology can make some decisions
easy to execute on, doesn't mean they should be as easy as clicking a button.

~~~
moonka
If you don't mind me asking, why would you prefer not to know?

~~~
hawkweed
Well, it's basically a death sentence for person having this condition. Event
though there are some attempts by IONIS HTTRx to find a cure, currently, it's
not curable. And it's hard to tell if this disease will ever be curable.

~~~
SEJeff
Life is a death sentence, unless someone has unlocked the key to immortality.
I'm sure there are people who've lived less years than me who have still lived
a fuller life than me. Randy Pausch, of Carnegie Mellon University, comes to
mind:

[https://www.youtube.com/watch?v=ji5_MqicxSo](https://www.youtube.com/watch?v=ji5_MqicxSo)

Just because you're born knowing you're going to die doesn't mean we should
all fret about it (unless you're a Nihlist of course, and then it doesn't
matter as everything is futile). Knowing you're more likely to pass sooner
would hopefully be a good thing in that you'd hopefully spend more time with
your family creating memories than useless stuff like grinding at work and
trying to climb corporate ladders only to become a senior middle manager in 20
years.

Personally, I would absolutely want to know to pivot my life towards reality.
I'd much rather have an educated guess as to what my future might hold given
the options vs sticking my head in the sand and "hopes and prayers" for the
best. That being said, I can understand how it might simply be overwhelming
for some people who wish to remain blissfully ignorant. Best of luck to them!

------
grandalf
I'm surprised to see all the fear-mongering in this thread.

We leave genetic material behind everywhere we go. 23andme analyzes only a
small subset of one's DNA.

The most important thing to realize about genetics is that very few health
conditions (and even traits) are highly correlated with a specific genotype.

Some are, but the reason something like 23andme hasn't revolutionized health
is because the correlations for most things are weak. 23andme does a good job
of showing just how weak in the results. I'm 52% likely to have the eye color
I have even though both parents have that color. I'm the tallest in my
generation (in my family) yet my genes are mostly for below average height.

Over time, with a lot more data and a lot more correlation analysis with
health and behavioral data, there will be more actionable information for the
average customer.

As it stands, 23andme is useful for the following reasons:

\- the data is entertaining. It's fun to find out how much neanderthal DNA one
has, etc.

\- the ancestry results are interesting.

\- the health results make it clear just how little impact genetics has in
most aspects of health. Yes there are some big exceptions, but those are a
minuscule percentage.

By joining 23andme you get a chance to watch the studies unfold and plug in
your own data. For a curious, patient person, this offers a great way to make
an interesting area of science a bit more salient.

~~~
marchenko
Your comment could also be taken as an argument for being a late-adopter of
commercial genetic testing services:

1\. The AUC (predictive power)for most traits is currently very weak

2\. The genetic privacy protection landscape is currently quite volatile

Taken together this puts the consumer in the situation of having data that is
of middling utility for them personally, but is of great potential utility for
the testing company and insurers. A small increase over the average population
susceptibility for trait X is often non-actionable for you personally, but
over several traits might be sufficient to shift you into a different
insurance risk class. If you have privacy concerns and are interested in your
risk profile for certain traits, look into whether a kit is available for
those traits alone. You may wish to combine different kits from different
providers to interrogate multiple regions (a more expensive strategy for the
privacy-sensitive). There are a few companies that will put together a bespoke
panel. At present, it may be prudent to take a hacker approach to genetic
testing.
[https://isogg.org/wiki/List_of_DNA_testing_companies](https://isogg.org/wiki/List_of_DNA_testing_companies)

~~~
grandalf
These are good points. I'll respond with a few things that I think are
relevant:

> an argument for being a late-adopter

Definitely. I was an early adopter of 23andme, and there is value to 23andme's
research arm when a customer fills out the surveys, but the utility is low and
comes predominantly in the form of entertainment. I'm the most neanderthal of
everyone in my family who has signed up, which is a mark of pride.

> A small increase over the average population susceptibility for trait X is
> often non-actionable for you personally, but over several traits might be
> sufficient to shift you into a different insurance risk class.

While this is quite true, and would be very worrisome, I think the basic
properties of heredity make it unlikely that the dystopian outcome you
describe will occur. Here's what I think is the logical argument:

We are all very genetically similar. There are thousands of 5th, 6th, 7th, and
more distant cousins of mine on 23andme. Chances are most of the population
descended from Europeans are < 10th cousins away from each other, etc. The
degree I state could be wrong but the general idea is true.

Broad, ethnicity-based risks are already known/used by insurers... things like
sickle-cell risk, diseases more common among Ashkenazi jews, etc.

While there are many health conditions that correlate with genetics, their
presence is dominated by chance. Thus we all have similar incentive for
adverse selection of insurance, and hence insurance companies have little to
gain by fragmenting their risk pool on the basis of tests with low predictive
value.

Moreover, since so many people reproduce and thus take on financial
responsibility for the genes of their children (which are subject to both
hereditary risk and mutation risk) chance becomes an even more dominant factor
in risk, and amplifies the incentive to create the largest risk pool possible
because the risks cannot be predicted with high levels of accuracy. There have
already been extensive, large data set statistical analysis of full genomes
for predictive information about the top 5 most costly diseases. If there was
going to be a large, statistically significant find, we'd have already heard
about it.

The other side of this coin is that even people whose genetic scan shows
reduced risk for all of the expensive diseases will still get those diseases
with enough frequency that segmenting the risk pool will not make financial
sense for insurers.

The situation we had a few years ago with respect to expensive pre-existing
conditions was actually far worse. Type 1 diabetes is weakly hereditary and is
dominated by chance. If you get type 1 diabetes you're looking at a few
hundred dollars per month of cost for test strips, insulin, etc., to the point
where for a middle class or lower middle class person, the disease can be
financially crippling. Most people would prefer that the risk of randomly
occurring, expensive diseases be spread among everyone, so that we'd all pay
$1 more so that the person who gets unlucky and has type 1 diabetes gets the
strips for free.

Yet in spite of this, even with acknowledgement of pre-existing conditions,
the scenario remains. The insurance/healthcare industry has not managed to
create the proper financial incentives that would insulate someone who drew
the short straw and got type 1 diabetes from financial hardship (via pure
insurance)... while it has failed to create any financial disincentive for
adopting many behaviors that are nearly guaranteed to increase healthcare
costs.

So I have hope that a better (broader, more public) understanding of genetic
risk, random chance, and behavioral risk will help the insurance industry
deliver products that allow all of us to save money based on things we can
control, and not to be penalized for things we cannot control.

Neither of the extreme ideas (that there is strong genetic determinism for
disease and healthcare cost or that there is zero behavioral/environmental
impact) are true.

Also, fwiw, I don't think any of us would tolerate living in a society where
people had to consider the genetic scan of a potential mate before deciding
whether a relationship made sense financially. I realize this is the case
today in some minority populations who have had (for historical reasons) lots
of in-breeding) but over time the impact of that will be reduced.

------
phkahler
Is there any way to just have your entire genome sequenced and get all the
data in a software-friendly format? At that point there could/should be some
open source software for analyzing it and finding common or well understood
things like this. That way the software could be updated and people could re-
run their analysis to look for newly discovered stuff.

I think this would be an awesome amount of fun. I for one would be interested
in looking for certain gene variants that are not mentioned at all over at
23andMe.

~~~
sushid
Have you already done a 23andMe analysis? If so, you can check out
[https://promethease.com/](https://promethease.com/). It's exactly what you're
looking for as they have constant updates that make it worth your while to
rescan every year or so.

~~~
fudged71
Why would you need to be rescanned? Does your DNA change that often?

~~~
sushid
Not your DNA, but your Promethease analysis can be redone every year or so as
they're constantly adding new analyses.

~~~
fudged71
Makes sense, thanks!

------
Balgair
Are they still saying that by submitting a sample to them, that they then own
your genome and can sell it to whoever they want? I'd love to get mine
sequenced and check it out a bit, but not if they are going to sell it off to
a million shady companies whenever they go bankrupt (maybe 50+ years, but
still)

~~~
caio1982
"We will not sell, lease, or rent your individual-level information (i.e.,
information about a single individual's genotypes, diseases or other
traits/characteristics) to any third-party or to a third-party for research
purposes without your explicit consent."

And...

"Unless you choose to store your sample with 23andMe (called consent to "bio-
banking", which can be found here and changed in your settings), your saliva
samples and DNA are destroyed after the laboratory completes its work, unless
the laboratory's legal and regulatory requirements require it to maintain
physical samples."

Also: [https://www.23andme.com/en-
int/legal/biobanking/](https://www.23andme.com/en-int/legal/biobanking/)

~~~
menacingly
I obviously don't understand the specifics, but if they are later owned by
someone else, is that new someone considered a third party?

For instance, doesn't this mean that a hypothetical future 23andMe drowning in
debit could be acquired by a company who could use the data for all sorts of
terrible things without ever technically selling it to a third party?

~~~
awqrre
Aren't they already selling your data to third parties? [0]

0\. [http://gizmodo.com/of-course-23andmes-business-plan-has-
been...](http://gizmodo.com/of-course-23andmes-business-plan-has-been-to-sell-
your-1677810999)

------
awalton
...right as the Republicans want to remove some of the protections afforded by
GINA. [1]

While I'm sure this helps 23andMe's business case, it's a seriously scary time
to consider getting your genome sequenced right now.

[1]: [https://www.washingtonpost.com/news/to-your-
health/wp/2017/0...](https://www.washingtonpost.com/news/to-your-
health/wp/2017/03/11/employees-who-decline-genetic-testing-could-face-
penalities-under-proposed-bill/)

------
Paul-ish
> 23andMe is now the only company authorized by the FDA to provide personal
> genetic health risk reports without a prescription.

Will it be hard for competitors to get this authorization as well?

------
Gatsky
I think people are forgetting to ask the key question - Cui bono? Who
benefits?

23andme definitely benefits - all the data they have collected is very
valuable, and they intend to sell it to pharmaceutical companies etc.

On the other hand, working in genomics, in my opinion the benefit to any one
person having their genome tested in this manner is minimal. The simple reason
is that most genetic alterations have low penetrance for phenotypes or involve
complex interactions.

~~~
jamesblonde
I would have. I had 2 kids diagnosed with cystic fibrosis the same day, so it
would have helped me. Many phenotypes are complex, but not all are.

------
okket
FDA press release:

[https://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/u...](https://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm551185.htm)

------
CaliforniaKarl
I wonder, does that mean anyone who's already submitted a sample to 23andme
will get these reports, or is a new sample required?

~~~
jjeaff
If you have already submitted a sample, you will get a report. Since 23andme
maps your whole genome, they simply compare the existing data as new finding
are approved. OR if you are like some and signed up early before the FDA
crackdown, you already got all this information and now they are just
reappearing little by little.

~~~
Animats
_Since 23andme maps your whole genome..._

They don't go that far. A full genome sequencing costs around $2900 as of
2015. (Which is amazing, since the first one cost billions.) Maybe $1000 with
the new Illumina HiSeq X Ten sequencing system. Data from a full genome
sequencing is about 80GB. (Opportunity here for specialized compression - 98%
of the genome for humans is the same.)

23andme is testing for about 100,000 known patterns using a much simpler
approach for about a tenth of the price.

~~~
nojvek
Where can I get my full genome sequenced?

~~~
Animats
Lots of places. Genomics Personalized Health in Santa Monica offers the
service to individuals for $2500.[1] Includes cloud storage for the data. They
have a list of medical consultants who can help interpret the data; they just
give you the bits.

List of service providers.[2]

[1]
[https://genomicspersonalizedhealth.com/](https://genomicspersonalizedhealth.com/)
[2] [https://www.scienceexchange.com/services/whole-genome-
seq](https://www.scienceexchange.com/services/whole-genome-seq)

------
soneca
My opinion is that this test is useless at the least and dangerous at the
most. It provides information that in almost the totality of the cases no one
can correctly interpretate and transform in actionable health advice. Not
scientists, not doctors, much less consumers.

But it is sold as a cutting edge scientific resource that will improve your
life. It wont. Not even increasing the chance that you might avoid something
somehow, that's the fallacy.

For our level of knowledge regarding causality in biology and genetics, I
believe this test is as good as buying your astrological map.

~~~
tlb
Do you believe that no genetic tests at all can be useful? Like, even for
Huntingtons or Cystic Fibrosis? Or is it just these specific tests you don't
trust?

~~~
cjbprime
soneca has a good point here (perhaps accidentally), which is that you'll
notice that 23andme _doesn 't_ return Huntington's or CF results, and it
sounds like the reason is _because_ they would be so useful and predictive of
disease.

Which does put 23andme's health results in this realm soneca described of
"things that might be interesting, but can't be very actionable because they
don't want to scare you by returning actually actionable information to you".

~~~
Florin_Andrei
No. What's really happening is that they did provide a lot of probability
estimates for some pretty serious stuff - back in the day before the FDA told
them to stop doing it. I know because I carry a higher risk allele for a non-
trivial disease (along with lower risk alleles for some other non-trivial
diseases), and the test placed me in those corresponding statistical risk
buckets which are different from the general population.

Then the FDA came down on them like a ton of bricks.

Now it sounds like they're reopening that door, slowly, step by step. I'm all
for it.

~~~
cjbprime
I agree with your assessment of the situation, but I'd still be very surprised
if e.g. a Huntington's test shows up in 23andme, and I think that's because
the FDA doesn't trust consumers to react appropriately to receiving serious
and actionable information from 23andme.

~~~
Florin_Andrei
> _the FDA doesn 't trust consumers to react appropriately to receiving
> serious and actionable information from 23andme_

So, that is an interesting and valid point. I've thought about it myself.
Seems like these tests are something new, and it may take a while before the
new thing is absorbed into the culture and it's treated the way it should.
Yes, there is still the risk of misunderstanding the information you're
getting.

There are also a few simple solutions - e.g. any doctor should be able to help
you correctly integrate this information.

------
csl
When 23andMe took down their health reports, I reimplemented most of them
myself: [https://github.com/cslarsen/arv/](https://github.com/cslarsen/arv/)

(I.e., arv is a newer version of the older dna-traits, which includes the
actual health reports: [https://github.com/cslarsen/dna-
traits/](https://github.com/cslarsen/dna-traits/))

Just `pip install arv`, `python -m arv --example genome.txt` and you're good
to go (it's fast as well, parses in 60-70ms).

~~~
ganeshkrishnan
I used promethease report generation and it gave me around 500 paged document
about everything related to my DNA.

------
deusofnull
Can't wait till the require these for health insurance... Seriously, is there
regulation protecting people from "pre-existing conditions" discovered by
their genetic analysis?

~~~
thinkmoore
Coming soon to an insurance broker near you:
[https://www.newsroom.co.nz/@health--
science/2017/04/04/17972...](https://www.newsroom.co.nz/@health--
science/2017/04/04/17972/how-your-genes-affect-your-insurance)

Of course, this article is about New Zealand, but I will not be surprised to
see similar things in the States. Thankfully ACA provides protection for
health insurance, but we're already seeing things like
[https://www.congress.gov/bill/115th-congress/house-
bill/1313](https://www.congress.gov/bill/115th-congress/house-bill/1313).

------
mrfusion
The FDA thinks it can decide what I can learn about my own body.

~~~
jdavis703
23 and Me gives you the raw genetic report. If you're sophisticated enough to
not panic and jump out a window because you have some terrible disease, the
assumption is you can also find open source data and/or software that will
give you this same information.

The problem with what 23andme was doing is going direct-to-consumer with tests
that were potentially sketchy. If you're willing to risk sketchy information
you can find all kinds of bleeding edge research on your particular genetic
makeup and choose how to handle it.

~~~
mrfusion
We're acting like adults can't handle getting bad news. We're infantilizing
them. People get bad news all the time and don't jump out windows.

By your argument we should regulate who's allowed to tell people that a
relative has died.

~~~
PeterisP
Adults can't handle misleading and inaccurate health information, and are
known to spend large amounts of money to e.g. literal snake oil peddlers back
when peddling snake oil as a cure-all wasn't prohibited.

Yes, we are regulating who's allowed to tell people that a relative is going
to die, and we're asking people who do so to show evidence that they know what
they are talking about. If someone would go around selling a service "is your
relative going to die" by guessing or simply telling what they want to hear,
then that _should_ be regulated and prohibited.

As another poster said, "One problem is that they warn that your offspring are
at high risk for some condition, when really "high risk" means 0.5% higher
risk than the general population. The other is that they may say you are not a
carrier for a certain condition, when they only test for one variant of it,
where proper tests will test for multiple variants."

If you tell people "we ran a test for X and it was positive/negative" then
you'd better be able to show that whatever rituals you performed actually lead
to reasonable information about X. Simply having a test that has some
information related to X (e.g. if it would be used together with other factors
to diagnose X or not X) doesn't mean that you can honestly describe it as
"test indicating a high risk of X" \- it may be that this particular test is
indicating that, and it may be that it (alone) is misleading, and we need
someone (e.g. FDA) to draw a line.

------
Khaine
So if someone was interested in getting a genetic test to find out ancestry
and health information, what service is best?

------
tudorw
I found some useful information in my 23andme report regarding poor or
undesirable responses to quite a few pharmaceuticals, my phase 1 metabolism
is... novel...

------
DownSyndrome
23andMe is very offensive in assuming all humans only have 56 genes.

~~~
astrange
In fact almost everyone seems to have more than that:

[http://www.nytimes.com/2013/09/17/science/dna-double-
take.ht...](http://www.nytimes.com/2013/09/17/science/dna-double-take.html)

------
kakarot
DNA readings will soon be the new Horoscopes...

~~~
dikdik
There are already companies out there using DNA sequencing for some absolutely
bullshit products...Vinome comes to mind, they suggest wine you might like
based on your genome.

Personally, I'm all for it though. It's a way to have fun with science. As a
scientist, it's nice to have stupid "horoscopes" to keep life interesting.

~~~
magic_beans
Whoa. That is a pretty fine gimmick there. I'm amazed that anyone wealthy
enough to afford that kind of service would be stupid enough to use it.

~~~
kakarot
Poor people are often uneducated by necessity, but blood-rich folk are
sometimes uneducated by choice. What a luxury!

