
Be Careful about 23andMe’s Health Test - tysone
https://www.nytimes.com/interactive/2019/02/01/opinion/23andme-cancer-dna-test-brca.html
======
jedberg
I’ve always assumed that my 23amdme results were merely guidelines. If it says
I don’t have something, then that means nothing. If it says I do have
something, then that means I should be on the lookout for other corroborating
data or symptoms.

It actually helped me find an explanation for some weird symptoms I was
having. After I told the doctor, “23amdme says I may have X” he said “yeah all
those things could be symptoms of X” and we went from there.

~~~
DenisM
Did any treatment result from this discovery?

~~~
Baeocystin
Not the person you asked, but in my case, yes, after additional independent
verification. It is not a _huge_ deal, but it did result in a real quality-of-
life improvement. I am grateful for what I learned.

~~~
DenisM
Grats!

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carbocation
23andMe currently uses a genotyping chip, not gene sequencing. So, this
article is misleading at the top (but gets more accurate at the bottom).

Early variant discovery suffers from the winner's curse phenomenon: we
overestimate the effect of newly discovered mutations.

As time has gone on, it has become clear that even for many Mendelian
diseases, the genetic background plays a significant role in terms of who will
develop the disease (or how early they will do so). The estimates of
"penetrance" have fallen as we have obtained more data.

This affects clinical genetic interpretation as well as the automated stuff
that 23andMe is doing.

~~~
rfc
This is our biggest gripe with the service. We have a lot of consumers that
ask us to perform gene sequencing for them expecting to get something similar
to 23andMe. It's always a hurdle to explain the difference between what we do
(targeted gene sequencing) and genotyping chip. They're a worlds difference
and requires some reading.

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m0zg
FWIW, gene testing may never be able to predict the exact odds, since some of
the diseases heavily depend on environmental factors (what you eat, how much
you exercise, how much you're exposed to carcinogens and sun, etc). In other
words, the real distribution here is _posterior_, whereas the best 23andMe can
do is somewhat accurately predict the _prior_. FWIW, my analysis from years
ago seems to match the specific health issues my parents are now having in
their late 60s. I haven't done the test for them, so it's not like 23andMe
just cheated by randomly throwing in the answers from their health
questionnaire. I now bring those up with my physician and optometrist and have
them check for signs of disease.

What baffles me is why they aren't doing it themselves. A full genome
sequencing (!) costs just $1k. I pay more than that for health insurance every
month.

~~~
thaumasiotes
> gene testing may never be able to predict the exact odds, since some of the
> diseases heavily depend on environmental factors (what you eat, how much you
> exercise, how much you're exposed to carcinogens and sun, etc).

All of those examples are themselves strongly predicted by your genes. The
weakest is what you eat, but just knowing what country the customer is based
in is probably enough to go forward with.

------
agigao
An extract from the article: _“23andMe has said that its health tests can
raise awareness about various medical conditions and empower _consumers_ to
take charge of their health information.”_

It’s a damn NEW DARK AGE way of thinking to refer PEOPLE through one single
universal word all the time - A CONSUMER!

Choose any word from x, and carefully observe your thoughts afterwards:

 _”23andMe has said that its health tests can raise awareness about various
medical conditions and empower _x_ to take charge of their health
information.”_

x = [“customers”, “individuals”, “humans”, “people”, “citizens”, etc]

~~~
tomnipotent
> It’s a damn NEW DARK AGE

It's a business, and if you give them money that makes you a consumer. What's
wrong with that?

~~~
brobdingnagians
I think the issue is mainly that people are multi-dimensional and referring to
them as `consumers` boxes them into "thing x that buys our stuff and exists
for consumption" instead of framing is as "this is a person that we developed
technology because it will improve their lives (and give us money)". Profit is
important for a business and helps drive efficiency and measure effectiveness,
but I think it is still good use language that doesn't dehumanize the fact
that the world is made of people and meeting the needs of people is ultimately
the important thing, not simply number in Excel that represent our cashflow.

Even customer is a better word, since it represents a person who comes to you
voluntarily for an exchange of value, not just consumption.

~~~
tomnipotent
Consumer is appropriate here and the word makes a difference. I'm a customer
of 23andMe, but I'm not a consumer (purchased for others, have not used
myself).

We live in a world where words mean something specific, generally to
communicate an idea, not warm fuzzy feelings, and it's important that we use
the right words so not to fall into the trap of multi-national businesses
pretending their employees are "family" because it sounds nice.

------
helipad
Is it me or are there suddenly a lot of anti-DNA testing articles being
published lately? Is there a particular lobby that I'm not aware of?

~~~
analog31
I think people are beginning to think of the "tech industry" as a whole, as
being a two edged sword. The honeymoon is over.

~~~
philwelch
Not just "people", but "journalists" who see their own field collapsing and
attribute a combination of blame and envy to tech.

~~~
zozbot123
> attribute a combination of blame and envy to tech.

Well, it doesn't help when techbros from 4chan and other 'techie'-linked
spaces routinely troll these same journalists by suggesting that they should
"learn to code", or something. I'm not saying that their envy is justified,
but it seems that there's more than one side at fault here!

~~~
Amezarak
It isn’t ‘techbro’ trolls that are engaging in the learn to code trolling,
it’s people who believe that the news media gleefully printed hundreds of
articles about how blue collar workers needed to quit complaining about the
new global economy and learn to code, and that they are being hypocritical now
that the (supposedly) same forces are impacting their industry.

I’m not endorsing the campaign which is hurtful at a time when someone has
just lost their job, but to interpret it as techbros holding coding up as the
way of the future is a mistake. Most of these people are also skeptical of
coding as a lasting career.

------
jcutrell
So this seems to suggest there may be plenty of false negatives, but I think
the key factors in this article are at the end: Family history and genetic
contributions to disease.

I personally decided to throw our 23andme tests out, for a variety of reasons
(health privacy being one), but one of them is health anxiety. It feels
unnecessarily anxiety inducing to provide this info, in either case. If i have
a mutation, I may live with some elevated fear of something inescapable that
never materializes. If I get negative results, I may wonder “what about the
ones they didn’t check?” Either way, I end up with less actionable
information.

Kind of a psychological phenomenon here - more data in this case doesn’t
necessarily result in more information, because interpretation matters so much
in this arena.

~~~
jackpark
I,OTOH, which I had had my 23&me results years ago since what they tell me now
might have prevented a costly experience back then. I totally get the "health
privacy" issue, what with Google looming in the background along many
dimensions, but for me, that was not a big issue. I also think that there is
an aspect of 23&me that is being ignored in the NYTimes piece, the social
network growing around real phenotypes in the context of genotypes.

------
pstuart
The data can be analyzed by other parties for additional insights. I'm a big
fan of Dr. Rhonda Patrick -- her team allows you to submit your 23andMe data
for additional tests:
[https://www.foundmyfitness.com/genetics](https://www.foundmyfitness.com/genetics)

I've not yet done this myself but am planning to do so later this year.

------
magnat
I'm still not sure about privacy side of the 23andMe. Whole testing procedure
could be designed to be completely anonymous, yet upfront I have to provide
name, address, birthday and e-mail.

Why do people willingly provide DNA samples together with personal
information?

~~~
arikrak
Do they verify the information, couldn't someone use a pseudonym? (Though then
your relatives who take the test might be surprised by the new relative they
discover..)

~~~
nilram
I bought a test and had to use my own name for shipping and payment (because
of the delivery and payment services involved). Someone else (cough, cough)
registered the test for their own sample and the results.

For 23andme, the discovery of relatives is optional. A user can choose to not
receive any information about potential relatives, or to disclose minimal
information, to allow messaging without names, or to disclose a name. I may be
misremembering some of the granularity, but names do not have to be
automatically disclosed.

------
ziont
this is a bad fucking idea to allow your DNA sequences to be shared with the
government.

but seems like a trend now, just to blindly copy what celebrities endorse so

more power to you folks who submitted your DNA, you can never take it back,
and they have it forever.

Any crime your descendants or you commit in the future or the propensity to
commit crime under the right psychosexual circumstances carefully driven by
subliminal messaging, are fucked.

~~~
pofilat
California has been stealing DNA from babies and guests of the criminal
justice system for over 30 years.

[https://sacramento.cbslocal.com/2018/05/14/california-
newbor...](https://sacramento.cbslocal.com/2018/05/14/california-newborn-dna-
database-shocks-parents/)

~~~
ziont
that is quite chilling but not surprising from the US.

I wonder if this had impact on the drop in crime rates during the 90s.

Imagine a carefully targeted campaign against genetically disposed to violence
and allergy to education. You can sterilize entire 'hoods bye putting guns,
drugs and alcohol there and just wait for the environment to infect all
others.

Like considering the overwhelming prison population in the US is black or
latino, you can't help but wonder at some grand conspiracy that's aimed at
sorting out the unfit from the normal.

------
cassowary37
Relevant fine print from FDA decision:

i A prominent and conspicuous limiting statement that the test provides only a
preliminary test result that needs to be confirmed using an independent
pharmacogenetic test without such a limitation prior to making any medical
decisions. Alternatively, appropriate design verification and validation
activities, including the generation of robust analytical data demonstrating
appropriate analytical accuracy and reliability of test results for each
genetic variant included in the test report, must be performed that
demonstrate that the test can be used to make well-informed clinical
decisions.

In other words, any test results (at least related to drug metabolism)
require... confirmation with another test?

~~~
skwb
Two things: 1\. 23 and Me has a history of overhyping their science when it
comes to medical claims. FDA back in 2013 threatened regulatory action due to
their wafarin (blood thinner) metabolism claim.

[https://www.fda.gov/ICECI/EnforcementActions/WarningLetters/...](https://www.fda.gov/ICECI/EnforcementActions/WarningLetters/ucm376296.htm)

2\. FDA regulates marketing and claims that you can make for products
including drugs/devices (but that whole regulatory framework is a story for
another day). You need to have certain regulatory approval for formalized
medical testing/reimbursement (remember that 23 and Me is targeting consumers,
not traditional patients).

------
kenjackson
Why doesn’t 23 and Me test the whole gene? I can’t imagine it’s because they
are ignorant. Is it cost or do they not have all the gene info due to how they
acquire the sample or something else?

~~~
l33tman
23andme only searches for known snips (SNPs, single nucleotide polymorphisms),
they don't scan the genome, that is still a fairly costly and slow procedure
(although it's radically getting cheaper and cheaper!).

[https://customercare.23andme.com/hc/en-
us/articles/115004459...](https://customercare.23andme.com/hc/en-
us/articles/115004459928-Raw-Data-Technical-Details)

~~~
criddell
> that is still a fairly costly and slow procedure

How many zeros are we talking about? Does anybody offer the service?

~~~
notahacker
Lots of people offer whole genome sequencing. Dante Labs is currently offering
it at EUR 259 (no affiliation: I got their mailshot because I bought their
lower still Black Friday offer). Typical lab costs are thought to be more in
the $1k range, with the assumption that some of these offers are made with the
intent of rapidly acquiring a large corpus of anonymised full genome sequences
which they hope most of their customers won't opt out of being analysed for
commercial scientific research.

[https://www.dantelabs.com/collections/our-
tests/products/who...](https://www.dantelabs.com/collections/our-
tests/products/whole-genome-sequencing)

------
buboard
23andme used to give health reports for years and these issues were known.
After all , i doubt its clients consider it a health service, it is at best a
novelty. Plus, its health reports are completely unavailable in europe. Still,
if someone is curious to check their disease risks, there is promethease

~~~
Baeocystin
I realize this is just my personal experience. That being said, I was an early
customer of 23andme, and their health checks actually alerted me to two
different things that I have since taken appropriate measures for. They were
legitimate issues that I hadn't sussed out previously, but further testing
confirmed them. I'm grateful for what I learned.

~~~
buboard
i have the old reports too, and even though i did not learn something i didn't
know, i wish i could have new ones, with the added knowledge from ~5 years of
research.

~~~
Baeocystin
Same. There's always [https://promethease.com/](https://promethease.com/) ,
but 23andme did/does a better job at data presentation.

------
moneywoes
I have Celiac disease. Would it be beneficial for me to take one of their
tests to see where my condition originated?

~~~
nine_k
If I were in your shoes, and planned to have children, I would go for it, just
in case.

------
phyzome
Those videos were totally unnecessary, and could have been still images.

~~~
hliyan
I felt videos 2 and 3 were the most helpful parts of the article. I wish more
science/tech articles could rely on graphical/animated explanations. After
all, they do speak a thousand words.

~~~
phyzome
If an image says 1000 words, those videos said about 1002 words, and showed up
as blank spaces until I right-clicked and selected "play". (Before that, they
said 4 words: "This site looks broken".)

------
evrydayhustling
Wait, this is from the NYT's editorial board? I love the NYT, but why on Earth
would I look to its editors for scientific/medical advice? And why on Earth
would they opine?

~~~
skwb
Well for one is Sarah Jeong. Despite internet conservative white males not
understanding irony and sarcasm, she is a thought leader when it comes to the
intersection of technology and law. I don't know her writing on
science/medicine, but her writing on technology and law are in the top of the
field. I trust her (and the NYT brand) to consult with medical professionals
who know what they're talking about.

And for what it's worth, this particular NYT article is pretty on point for
their analysis as read by a bioinformatics PhD student.

~~~
evrydayhustling
Weird digression! I happen to agree Sarah Jeong's work is worthwhile, but like
you said it's not her field, and none of the editorial board list anything
about medical focus. Re: consulting experts, sure and agreed - but then why
not do it as a reported piece and like, quote the experts?

> this particular NYT article is pretty on point for their analysis as read by
> a bioinformatics PhD student

Really? With stuff like "23andMe’s breast cancer screen looks at just a
handful of places in the gene where mutations are known to appear. That’s like
proofreading a document by looking at only a handful of letters"?
Bioinformatics research background here, too, and as far as I know all of
those screens scan particular sites and not a full sequencing -- because the
sites are the only thing we have clinical evidence for anyway.

I don't doubt that there are more comprehensive screens on the market, but
arguments like "only 2% of the population has these mutations" are
rhetorically misleading without comparative details, like how much of the
population has detectable mutations of any kind.

I think using an opinion page level of rigor to make arguments of this kind
misleads some people, and leaves everybody else in a place of choosing whether
to "trust the NYT brand" as opposed to providing them evidence.

~~~
skwb
Clinically, we have the option to sequence the BRCA 1/2 genes. It's not
uncommon for this to be done if certain clinical criteria are met (such as
close family history of brca or being of Ashkenazi Jewish descent.) [1].

Note: Paywall warning. But the uptodate article says the following.

"Direct-to-consumer BRCA testing — In March 2018, the US Food and Drug
Administration (FDA) authorized the direct-to-consumer (DTC) company, 23andMe,
to include BRCA testing as part of its Personal Genome Service Genetic Health
Risk report [60]. It is important to note that the testing includes only the
three BRCA Ashkenazi Jewish founder mutations and does not entail analysis of
other potential variants in these genes. Pre- and post-test genetic counseling
is not required for individuals interested in such DTC testing.

Any individual who receives a positive result from DTC testing should have it
confirmed in a clinical lab. Although the likelihood of a false-positive
result is very low, it is critical for the result to be confirmed and an
individual, signed report should be provided to the patient.

An important concern related to BRCA DTC testing is that women at average risk
for breast cancer may be falsely reassured about what the genetic testing
results mean for their breast cancer risk and the continued need for routine,
age-appropriate mammography screening. On the other hand, for women with a
personal or family history of breast cancer who are candidates for genetic
testing, testing only for the founder BRCA variants is incomplete, regardless
of ancestry. Such women need complete BRCA gene analysis and are likely good
candidates for multigene panel testing."

[1]. [https://www.uptodate.com/contents/genetic-counseling-and-
tes...](https://www.uptodate.com/contents/genetic-counseling-and-testing-for-
those-at-risk-of-hereditary-breast-and-ovarian-
cancer?sectionName=CRITERIA%20FOR%20GENETIC%20RISK%20EVALUATION&topicRef=758&anchor=H3090108380&source=see_link#H3090108380)

~~~
evrydayhustling
Thanks for these details!

Edit: it's still bugging me that this doesn't describe the utility of the
additional clinical screen more specifically. Is the point that even if false
positives are rare, the treat path is informed by full sequence data? Would
love additional insight.

These details are important to me because I _think_ low cost tests can fill a
public health niche that "only the most comprehensive test" strategies leave
underserved. Any progress in those areas is likely to meet resistance, because
it could bite into the margins of folks offering broader packages. So I am
really interested in how both scientific and popular articles portray the
tradeoffs.

