
Ask HN: Is 23andMe DNA testing worth it? - casper345
See my friends getting tested and what interest me is the genetic conditions you may be more pre disposition for. But having a private company with my DNA is privacies of all privacies out the window. Is it worth? General thoughts?
======
someguyxyz
I work in clinical genomics / bioinformatics, and I think the current health-
related results that companies like 23andMe offer are pretty misleading. They
look only at a few specific genomic coordinates that are known to be contain
pathogenic variants, but chances are if you have the associated disease you
don't have a variant at one of those few select locations. Because of this, a
negative test result does not mean someone isn't at risk for the condition. I
think this nuance is likely lost on most customers. (There are certain
diseases that are associated with just a few gain-of-function mutations at
well characterized sites, these would be better candidates for testing of the
sort 23andMe does - but that's not what they are offering in general.)

The paradoxical nature of genetic variation, especially deleterious variation,
is that most of it is very rare. Even with today's massive genome sequencing
efforts it's still common to find variants that don't exist in ANY previously
sequenced genome. Looking only at just a few sites will rarely get you the
whole story.

------
rossdavidh
I think a large part of the reason for giving money to a company like 23andMe
is speculative; you are expecting that widespread genetic testing will result
in us (as a society) learning a lot more useful info than we know now, and
towards that end you want to see private sector companies like 23andMe
succeed. If all we ever got out of it was what 23andMe (and their competitors)
can give us now, it would not be worth it. But, sometimes you need some
"foolish" early adopters to get the ball rolling. Plus, there is some
entertainment value. If you would not find it either satisfying to know that
you helped this industry get going, or interesting to know about the ancestry
stuff, it will not (at this point) be worth it.

~~~
duhi88
That's how I felt in the beginning. However, now that they are open to selling
data to drug companies...I'm not so sure my data is going to be used strictly
to benefit humanity.

~~~
_Schizotypy
Are you saying that developing novel treatments does not benefit humanity?

~~~
sprucely
Are you saying that developing novel treatments is the sole purpose of a drug
company?

~~~
Broken_Hippo
No, but it is one of the purposes of a drug company. It is great when we can
have more general cures and treatments for different sorts of general things,
but also great when we can create novel treatments and cures for autoimmune
disorders and cancers and so on.

~~~
sprucely
I guess I was trying to suggest in a tongue-in-cheek way that gp's comment
might be disingenuous or contain some sort of fallacy. I mean, there are
plenty of ways that drug companies can benefit or be a scourge on humanity.
Just consider the EpiPen pricing debacle. Is it a benefit to humanity when the
demand for a life-saving product is leveraged to maximize profits, extracting
the livelihood from the people it's supposed to be saving?

~~~
Broken_Hippo
That portion of the drug industry is rather surreal. I don't mind folks making
a profit, mind you, but I do mind folks obviously taking advantage of people
with little real choice.

I'm not even sure there is a one-size-fits-all answer to such things. That
particular case seemed to be obviously one of greed, but most cases aren't as
obvious. The most obvious (to me) would be some sort of price justification on
new drugs, which takes into account r&d (to include a portion of failed drugs,
but not advertising), manufacturing, and other actual costs with a certain
percent of profits - with increases only rising with inflation or by going
through the justification process yet again (to account for changes in
manufacturing costs, for example). I don't see that happening soon, though.

------
theogravity
Not really - I did both the genetic and ancestry testing. All I got out of it
was that I was a significantly higher percentage of a particular ethnicity
that I didn't know about, which was pretty cool.

The genetic side didn't have anything meaningful (but maybe because whatever
markers it tests for, I didn't have any risk factors).

I also loaded the data into Prometheus, but all it gives you is academic
journal articles that you'd have to sift through and do your own
interpretations.

They recently partnered with a genetics company to share data - at that point,
I opted out of data sharing since I was unsure how my data was exactly going
to be used.

Also watch for discount deals - don't pay full price - you can get 30% off the
kits during sales on Amazon.

tl;dr: do ancestry if its on discount, unsure about genetics.

~~~
tiemand
I was confused for a bit..I thought hang on "Prometheus" (
[https://prometheus.io](https://prometheus.io)) is a time series data base,
how can it support genetic data. Turns out you probably meant Promethease
([https://promethease.com](https://promethease.com))

~~~
theogravity
Ah yes, thanks for the correction.

------
wryun
I found out I had two (!) dangerous recessives (the sort that if you have
these from both sides, your body/life is pretty messed up), neither of which I
knew about from family history. Luckily, my wife has neither, but I appreciate
knowing this and being able to warn my children.

------
nonbel
No, you have no idea what danger you are putting your family or descendants in
by giving these companies a good DNA sample. On the plus side you might get
told some vague "risk factors".

~~~
majewsky
Downvoted because saying "you have no idea what danger you're putting yourself
in" without substantiating that claim with an explanation is fearmongering.

~~~
nonbel
Stuff like this is already going on: [https://www.ajc.com/news/national/can-
police-legally-obtain-...](https://www.ajc.com/news/national/can-police-
legally-obtain-your-dna-from-23andme-ancestry/8eZ24WN7VisoQiHAFbcmjP/)

Of course, people think its great when it was used to solve a murder...

------
cstejerean
Not anymore. The original 23andme I definitely found useful, and they had a
lot of interesting insights. But then the FDA basically shut them down and for
a while the only thing they could offer was ancestry reporting, and that I
really didn't care for. It seems like the FDA is slowly approving them to run
more genetic tests for various conditions (last I saw it was 10), so perhaps
it will increase in usefulness again. But I think it will be a while before it
will get to the level of reporting you used to get at the beginning.

~~~
cknoxrun
It may have seemed more useful, but the SNP-effect data quality was low.

------
Beefin
What you need to do is export the file and upload it to Promethease to know
all your genetic predispositions. then map your lifestyle/diet in a way that
allows you to avoid any early onset. For example: APOE4 = alzheimers, BRCA =
Breast cancer. there are plenty of preventative measures to avoid these
terrible diseases.

------
matt_heimer
Yes, for several reasons.

If you have an interest in ancestry and family trees in can be useful. I've
connected with a couple relatives I didn't know I had because of it. Trying to
build out a family tree was a fun exercise for me and from a cost-time ratio
I've gotten more out of it than I did movie pass.

Several people here seem to have been earlier adopters when they had more
health related information that the FDA made them pull. They've been re-
introducing some of them but for now 23andme is still a cheap way to get a
useful sampling of your dna that you can run through services like
[https://promethease.com/](https://promethease.com/).

If you get lucky (or unlucky depending on your perspective) it can make a
difference in your life. It showed me that I had a slight increased risk of
Celiac Disease so I had my allergy-immunologist do a blood test which came
back positive. Endoscopy w/ biopsy also confirmed. I didn't have a lot of the
stereotypical GI symptoms but after going Gluten free I can tell that I had
other issues because of it. I doubt I would have been diagnosed correctly
without my health report from them.

My wife also got a lot of value from hers. On the other hand our two adult
sons got a couple mins entertainment from it and moved on.

------
no_identd
[https://www.youtube.com/watch?v=HKQDSgBHPfY](https://www.youtube.com/watch?v=HKQDSgBHPfY)

DEF CON 25 - John Sotos - Genetic Diseases to Guide Digital Hacks of the Human
Genome

The Chief Medical Officer of Intel says genetic testing in general seems like
a terrible security risk one should avoid incurring at all cost.

So that's a big fat no.

------
DenisM
Let me save you the trouble:

Your genes indicate you’re likely predisposed to some diseases X, Y, and Z.
There is no vaccine from any of these, but you can reduce likelihood of those
diseases if you exercise regularly, but not too vigorously, mind your diet,
reduce stress, drink rarely, and have satisfying social life. Also remember
your annual medical exam, and consult a medical professional when things feel
wrong.

This is true for nearly any person as I understand.

~~~
jm_l
What's more important for mitigating my future disease risk? Diet and
exercise, or a satisfying social life?

(A sample of the questions that I might be able to answer with actual
specifics based on an analysis of my genes)

~~~
DenisM
Which tire is more important to your car?

All of them need to be up to par.

~~~
slededit
The rear ones actually. If your rear end slides out its a lot harder to
recover than front end slippage. Many people mistakenly put the best tires on
the front.

~~~
justtopost
While I agree, some physics-challenged lawyer set a precident in the usa
sometime in the 00s. Almost all shops say they have to. However, if both are
decent, its prudent on fwd cars to rotate them as they wear. The simple lesson
here is buy quality tires, and replace them when they are worn, and many other
issues are eliminated.

For a quick explanation to those unititiated in auto physics: bald tires on
front = increases understeer. Bald tires on rear = increases oversteer.
Understeer = car pushes straight under braking, going wide in turn. Default
setup of 99% of road cars and considered safer in general for average drivers.
Oversteer = rear end of car comes around, usually resulting in a spin, spins
remove all control from driver. Alert drivers in well handling cars can
countersteer into the slide sometimes, this is (basically) drifting.
Generally, only sports and racecars are setup this way.

------
smilesnd
Is it worth it, nope.

If you actually got any benefit from knowing your genetic conditions you were
more pre disposition to then insurance companies would offer it to you for
"free" to improve there screening process (or they could be purchasing that
data from 23andme). But really knowing you are 20% more likely to get breast
cancer are you going to start getting more breast exams, or just keep on
living life?

Plus a couple months ago HN had a link to a news article where they sent there
DNA off to multiple companies that do DNA testing and had mix results across
the board. Companies like 23andme are only as good as the database of DNA they
have. You will always get mix results because comparing DNA falls into NP
where you can not improve the time it takes to compare DNA.

You will never get a full picture of you DNA from a service that only charges
a few hundred bucks. It is like paying $10 a month and expecting a CDN at
google scale.

------
stickfigure
My wife and I did 23andMe years ago (on the original chip). I think we paid
$100 each. It came up with "not much interesting" for me but one risk factor
for my wife that was significant enough to prompt a behavior change.

I consider it worthwhile, even for me - "no news is good news".

------
natch
You get information like: You have a 11% greater chance of developing disease
X as compared to most people.

That first line above sounds useful, right? But read on...

Then you find out that most people have a 0.3% chance of getting disease X (3
tenths of 1 percent chance, for those who wonder if I've made a typo). So,
instead of a 0.3% chance, you have a 0.333% chance.

Big deal.

The ancestry part is interesting. But if I had it to do over again, I might
not do it, because by doing so I made some of my family members uncomfortable
by revealing some of their private information without their consent.

------
rkagerer
I bought one of these home-DNA tests years back to give to a relative as a
Christmas gift. After I read the ToS I immediately threw it out in the garbage
instead. Don't remember the exact phrasing but IIRC it basically made you
agree that they own your data. No thank you.

------
nikolay
Yes. Just do it when they have $99 specials (at least twice every year) and
download your raw data. I don't think you can find cheaper. At the same time,
I did a whole genome sequencing for less than $400, so, maybe $99 is way too
much anyway.

------
rladd
Ancestry has the better chip at the moment:
[https://snpedia.com/index.php/Testing](https://snpedia.com/index.php/Testing)

------
big_youth
I thought it was great, I found out I'm 43% native american.

------
hacker_9
What privacy intrusion are you worried about exactly? I'd be more worried
about how accurate the actual results are and whether that inaccuracy is worth
the money.

~~~
smilesnd
It makes it simpler for police and three letter agencies to gain access to
your dna without needing to go through proper channels. It is how that famous
serial killer/rapist got caught on a 30 year old cold case.

I know the response is "Well I ani't killing/raping so it doesn't matter."

A lot of people have been sent to jail on false positives on dna results. It
takes to much time to actually compare a large chunk of dna so they select
certain parts to compare it to and if you fall into the unlucky percentage
then you are screwed.

~~~
oceanghost
You're entirely correct about the three letter agencies.

HOWEVER

If any of your family members have done a test like this, the cat is already
out of the bag. My parents have done genetic tests, as have several of my
cousins. So in effect, my DNA is already on file.

~~~
monocasa
And that's how the got the serial killer, from his family's genetics, not his
direct samples.

------
Beefin
I'm building a tool that will help with understanding your gene mutations:
Meports.com if anybody is interested.

------
japerr
My dr said they have 40% false positive rate. Not sure how that rate compares
to other DNA tests though.

~~~
mrtron
Your doctor is not correct.

~~~
jstandard
Can you clarify a bit?

It sounds like his doctor is quoting this study, which does indeed suggest a
40% false positive rate:
[https://www.nature.com/articles/gim201838](https://www.nature.com/articles/gim201838)

~~~
mmmrtl
That 40% number is accurate but misleading. Here's an old prediction of pretty
much that result that explains the issue:
[https://liorpachter.wordpress.com/2013/11/30/23andme-
genotyp...](https://liorpachter.wordpress.com/2013/11/30/23andme-genotypes-
are-all-wrong/)

Basically, almost all (~99.9%) of the results of tests like 23andme (SNP
arrays) are correct, but because an interesting/scary variant/mutation is
about as rare in the population as the test result being wrong for a given
site, somewhere around half of those scary results are false positive. If 1000
people are tested for a mutation with this method, 10 will be false positive.
The real frequency of mutations vary by site - some will be close to 50%,
others at 10e-9, depending on how strongly that variant is selected against,
so the most harmful ones are very rare. If you get a result from 23andme that
your doctor thinks is worth retesting, it's probably because it's a harmful
mutation, which is rare, and ergo there's a fair chance the 23andme result is
wrong. So 23andme is almost always right, except when the result might affect
your health in a very serious way. I should point out that for late-onset
diseases like cancer, heart disease, alzheimer's, etc., there's little natural
selection, so pathogenic variants are more common, making it more likely that
the 23andme result is correct.

It's a simple bayes rule result. It would not be hard for 23andme to give you
an estimate of how likely the result is to be a false positive, but maybe
there's some regulatory barrier in the way?

~~~
jstandard
Thanks, this is fascinating.

How is error rate being defined in this case?

I took your explanation to mean: Cancer is common, so the genetic blueprint
for Cancer risk factors should also be common. We have a higher number of
samples to verify against which increases the detection accuracy.

For less common diseases, we have a smaller pool to verify against, so our
blueprint is less accurate. Lower detection accuracy.

~~~
rb23
No, that's not what it is. Let me give an example:

Disease X is very bad and strikes around age 30, so it has been selected
against and is very rare. Only 1/10,000 people have the gene that causes it.
Disease Y is bad, but it strikes when you're 70 (Alzheimer's let's say), so it
is not strongly selected against and is more common, with 1/100 people having
it.

The technology 23andMe uses is wrong about 1/10,000 times, just randomly, by
chance. This is true for every place in the genome it tests.

Of 10,000 people, only 2 will test positive for disease X while 101 will test
positive for disease Y. The 2 people who test positive for disease X will be
the 1 person who actually has it, and 1 false positive, so 50% of the people
who tested positive are actually at risk. Of the 101 people who test positive
for disease Y, 100 will be at risk and 1 will be a false positive, so 99% of
people who test positive are actually at risk.

Incidentally, this is why testing populations at very low risk for disease is
generally counterproductive. The false positive rate stays the same but as the
true positive rate gets very low, one tends to cause more harm than good.

~~~
jstandard
Thanks, the overall explanation makes sense now.

> The technology 23andMe uses is wrong about 1/10,000 times

Is 23andMe's tech considered state-of-the-art? I'm assuming there are ways to
reduce both the false positive and false negative rate and I'm curious how
other labs/tech stack up against these rates.

------
paulcole
It's astrology for people who think they don't believe in astrology.

------
dominotw
No its not useful. Its a fun curiosity and thats about it.

------
883771773929
I'd really like to know if there's a GNU-like project for the human genome.

I do understand that the 'value' in DNA testing is largely the ability to
follow the social graph of inheritance along with phenotypical metadata. This
is pretty much at direct odds with privacy even for the strictest of
'anonymizing' setups considering that the greatest context-dependent 'utility'
such as curing a truly unpleasant genetic disease or persecuting an ostracized
person or group is due to identifying and understanding highly anomalous
genes, phenotypes, or linkages of interest that come down to damning
specificities.

There is one case I can think of that I _might_ be willing to participate in
the "Human Genome Revolution", and at first thought it seems to me to be
useful to both those that submit their samples and to humanity as a whole: a
'simple' counter of every allele across all DNA samples uploaded. However, I
would appreciate feedback as to what are the gotchas here that will be abused,
because I'm positive I have not thought such a system through at all and the
Monkey's Paw [0] will grant my wish. :(

It would be a project that requires three components listed in increasing
importance:

1\. Cheap commodity DNA sequencer that can export its data in a free format.
2\. A network protocol for uploading DNA alleles to a swarm of peers that
archive and distribute the total counts. 3\. A probablistic anonymizing data
structure that combines something like a generalized crypto accumulator[1] and
a zero-knowledge negotiation process between the network and a client for
incrementing the common counters above a fairly large threshold such as maybe
several thousand or million submissions. Perhaps uses a modification of
something like the approximate counting algorithm[2] in a game setting.

[0]
[https://en.wikipedia.org/wiki/Monkey%27s_paw](https://en.wikipedia.org/wiki/Monkey%27s_paw)
[1]
[https://en.wikipedia.org/wiki/Accumulator_(cryptography)](https://en.wikipedia.org/wiki/Accumulator_\(cryptography\))
[2]
[https://en.wikipedia.org/wiki/Approximate_counting_algorithm](https://en.wikipedia.org/wiki/Approximate_counting_algorithm)

------
avip
What's "private" about your DNA? You spread it everywhere daily. Anyhow these
tests are basically pseudo-science. If you like pseudo-science, like
probiotics and so, go for it.

~~~
Beefin
how is gut flora research pseudo-science?

~~~
TheCycoONE
It's not, but the probiotic yogurt industry is.

A) they don't identify which bacteria is in the Yogurt. B) Lab testing has
shown that yogurt is a terrible medium for supporting probiotics so most or
all of them are dead by the time you eat it. C) Probiotics in foods don't
typically establish themselves in your gut, it already is saturated with
bacteria ideally suited to the environment. You would need frequent and high
concentrations to disrupt that.

~~~
Beefin
a. why do they need to? your gut flora derives value from variety, not always
certain strains. b. that's just specific to brand, storage, distribution, etc.
I can name plenty of dairy brands that are incredibly effective cultures kefir
is one (yes i know its not yogurt) c. false. you dont need high concentrations
you just need a "landing zone" for the good bacteria, and there are plenty of
methods of clearing a landing zone and making space for the good bacteria.

~~~
TheCycoONE
[https://www.cbc.ca/radio/thefridgelight/gutsy-1.4421175](https://www.cbc.ca/radio/thefridgelight/gutsy-1.4421175)
about 3/4s through when they have Dr. Marie-Claire Arrieta on.

