23andMe Wins a Second Life, Raises $115M
forbes.com
forbes.com
I seriously thought this was the future. I was so excited to see my health information.
It was really cool to see that my spit could confirm that I'm 1/2 asian and 1/2 european. Also, I found it interesting that I have more neanderthal DNA than 99% of people who took the 23andMe test.
Other than that, all the things I've seen are marginally useful at best.
I log into my account once a year or so when I get an email from 23andMe. I understand these things take a lot of time, but I think a lot of the initial users aren't so ready to tell everyone that they need to sign up for a testing kit. I think people were so much more interested in it years ago.
Other than that, all the things I've seen are marginally useful at best.
Do you mind if I ask what service she used for this?
For one people used to die a lot younger, many genetic defects will only kill an older, weaker human.
For two the environment is different, e.g. many more cancerogens in and around us. Just have a look at the cancer rates. A middle aged man in US today has a 70% chance of getting cancer during his lifetime.
The op said a friend discovered they had a genetic mutation that lead to an increased risk of cancer. There are several conditions that do this: multiple endocrine neoplasia (types 1 and 2), li fraumeni syndrome (a p53 mutation), familial adenomatous polyposis (apc mutation), hereditary non-polyposis colorectal cancer and a handful of others.
All of these present with strong family histories. In fact, patients with APC mutations often have cancer before their 30s. Yet have been successfully passing on this mutation for generations now.
If you do not have defective copies of the above (or a small subset of mutations of other regulatory and proto-oncogenes) then you have no greater chance of developing cancer than the next person, lifestyle and virus exposure factors not withstanding.
Now I really don't think you have any idea what you're talking about because your two points are at odds with each other: you first state that we are living longer, and defects 'will kill older, weaker humans'. Bullshit. Your next point, that cancer rates are higher now than at some indeterminate point in the past, is also bullshit and out of context: if we are living longer, then of course we are going to get cancer. But this has no bearing on our genetic susceptibility to cancer over a certain age. In fact, there are no known genetic mutations that predispose to cancer later in life; all the syndromes predispose to cancer early.
I can only suppose you are trolling very hard, and hence hiding behind 'anon1mous'
IF you want to sell a genetic test, you need to prove to the FDA: (1) that your test is accurate and reproducible, (2) that whatever conclusion you draw from the test is scientifically sound.
The issue was that 23&Me was saying "you have this SNP, that means your risk of X is increased by Y%". The test, the result and the conclusion is not based on a rigorous testing. Hell, some of the risk associated with SNPs is coincidental at best.
That said, I'm fine if people want that info anyways, but 23&Me would need to add a disclaimer that says "Your genetic test results and the risks attributed to them may or may not be accurate."
Which devices and drugs were 23&Me selling? I thought it was just crowd-sourced information about traits.
Think how ridiculous it would be if the FDA just shut down a crowd-sourced database about trait correlations. But suddenly when a company like 23&Me correlates the two, it becomes pure, concentrated evil that must be subject to regulation.
It's not a stretch to imagine someone acting on that information with potentially dangerous results; taking extra unneeded supplements, having elective surgery, dramatically changing their lifestyle to reduce the risk of some condition, etc.
The difference is that Illumina did things legally (including hiring clinical genetics analysts who pored over the details and made a number of calls about what was significant).
23&Me did not. They were doing something that they would have known was illegal. The FDA explained this to them, and 23&Me blew them off. Failing to respond to an accusation from the government is an amateur move and 23&Me deserved what they got. They only went back and negotiated afterwards.
You're complaining the government was restricting your freedoms but we have more than adequate evidence that 23&Me was acting irresponsibly.
Then I promptly uploaded my genome including the VCF files they used for risk screening, https://my.pgp-hms.org/profile/hu80855C
Anybody on the internet is free to analyze my genome.
What's been your experience with analysis? Something that can be picked up, or something that the professional insights you got were far more useful?
Personally I found it less than useless, since I can't reasonably conclude I have no risks. I know enough genomics to conclude that beyond a few well understood cases, genomes have little medical predictive ability.
They were marketing their genetic testing kits and related services for diagnosing genetic diseases and risks. That made it a "medical device" within the scope of the Food and Drug Act, which means that they needed to actually have specified level of testing establishing the validity of the things its was being used to assess.
The FDA noticed the violation, notified 23andMe, said, if you want to keep doing this, you need to meet the requirements, and please tell us how you plan to come into compliance. And 23andMe blew them off for quite a while, so the FDA enforced the law.
But they FDA doesn't allow it, even under this condition.
I think it's ridiculous that the FDA considers this okay:
A) "1,2,3-methyl dethyl has been proven in clinical research to make your life suck less. (This statement not evaluated by the FDA blah blah blah)"
But not this:
B) "You have genes X, Y, and Z. The current state of published researched indicates an elevated risk for skin cancer for this genotype."
Was anyone seriously claiming that 23andme was misrepresenting the state of the research? Were they providing or enabling any treatment based on this research without further review by a doctor?
"1,2,3-methyl dethyl has been proven in clinical research to make your life suck less. (This statement not evaluated by the FDA blah blah blah)"
I'm assuming you saw that on a dietary supplement? That would never fly for an approved drug. Take a look at the FDA website to see what kind of promotion they crack down on. There was a ADD drug company that had an ad with a kid studying and the slogan "He can finally get his homework done". The FDA came down hard on them and said "where is the clinical trial showing that academic performance improves?".
As other posters have stated, 23&Me got busted, submitted a 510(k) (approval of medical device) and then when the FDA came back with questions, they failed to reply. You can find it all in the numerous FDA warning letters.[1]
[1]http://www.fda.gov/ICECI/EnforcementActions/WarningLetters/2...
Further, when the FDA informed them they needed approval, they didn't respond. The FDA finally had to invoke the law.
Also, I don't think 23&Me's test results have enough medical value to be used for evaluating health risks.
Further, 23&me's database has serious problems; for exmaple, they still report tongue rolling as a Mendelian trait. That alone shows that they aren't being careful with their analysis.
For some things they do, like they test for mutations related to Alzheimer's that can drastically alter risk, ranging from "you're probably never going to get it" to "you're probably going to get it, and there's a good chance it'll be much earlier than you would have imagined".
But their marketing material was vastly overstating the value of their results, which is near 0 for most diseases. And it was misleading people into thinking it was more comprehensive than it really was (like, it's not a full genome, and it doesn't include every SNP that we know matters like most BRCA mutations).
I've done full-genome too. The report (first from Illumina, then from another site I uploaded my VCFs) was medically useless: I read all the top risks, then did additional research, and found that the risks they reported were contradicted by other SNPs (for example, they'll say you are at risk for X, but only if you have Y SNPs and Z SNPs, and if you check Y and Z you don't have it).
In general, you need a genius/expert to analyze these results right now.
Insurance companies would have another view.
http://www.cbsnews.com/news/fda-warns-23andme-tells-genetic-...
All the FDA did was prevent them from making unsubstantiated medical claims from the results of their test, in the same way that they would for, say, a new pharmaceutical. 23&Me could always go and perform the necessary clinical trials and submit the evidence to prove their results to the FDA. FDA is doing what the FDA was designed to do. What's the problem?
>Yet supplements and diet pills can make all kinds of bogus claims with impunity.
That's because the supplement lobby launched a huge political campaign and got congress to change the law barring the FDA from investigating supplements, after the FDA tried to regulate them.
I know for example that I am not a carrier of cystic fibrosis, and that I have one copy of ApoE4.
But I could have worked that out with a high degree of certainty anyway - I have a first degree relative that died of Alzheimer's and no family history of CF.
It remains to be seen that the information they provide is anything more than a curiosity. In fact, it could be dangerous for the uninformed to receive this information: prominent on my 'health risks' page is that I have a 57% risk of cardiac disease, with a big red bar next to it representing that it will likely claim me one day.
What it fails to mention is that a white male has a high risk of cardiac disease anyway, and putting a giant red bar next to the words cardiac disease without this context is not likely to be confidence inspiring
Make people tick a box that says "I am currently outside the United States" to receive the fancy information, if necessary.
It's kind of cool to cross reference your SNPs to NIH studies.
(It wasn't that useful, but we enjoyed it. We now have one child with blue eyes, and one with brown eyes)
We did pay a little more for our tests, but I am not sorry for it, I just wished it worked better.
Many people find this sort of thing creepy. I'm OK with it.
And on an even-more-personal note, as a guy with long hair, it was exciting to learn that I didn't have the male pattern baldness gene, even though my maternal grandfather was bald as an egg by the time he turned 40.
If this is in fact the story, doesn't this seem like an invasion of privacy on the part of 23andMe?
You have to opt in for the "Relative Finder"
>In rare cases, participation in DNA Relatives may reveal that you are related to someone whom you didn’t expect, or that you are not related to someone in the way that you expected. Consider this before you opt in to this feature.
If the disease in question could be hard to handle mentally/emotionally, they specifically include a warning that is very direct and says "Are you sure you want to know this?".
Telling someone they have a high risk of breast cancer or bowel cancer is helpful: they can get regular checkups.
Telling someone they have a high risk of Parkinson's or MS is just cruel.
Now they would certainly want to what their problem is. Who would be comfortable when they are told, they have a terminal disease and are they happy not knowing what that is?
Would you prefer they didn't ask?
edit: i don't mean this as a criticism, genuine curiosity.
If you're in a position to be responsible for others, shouldn't you already have a safety net/final arrangements? Diseases aren't the only things that can kill you unexpectedly, and even without a family I have life insurance, a living will, and all my other arrangements made.
Yes, you should, but many younger people don't. In your 20's, 30's, even 40's, you feel like death is pretty far off and you can get around to that "boring" stuff later. You may have some basic life insurance, but maybe you haven't really thought about other details. There are also things you might want to handle that aren't necessarily paperwork, such as catching up with family members.
Additionally, if you ARE someone who has that stuff in order (FWIW, I mostly do), you might decide to spend more time volunteering or doing other things. For my own case, I have my retirement pretty much covered. I mostly just work to fund day to day life and continue to contribute to retirement funds. If it turns out I've only got 2 or 3 years (or less!) left to live, I would definitely stop working entirely and spend my time doing other things.
It does make you anxious, but when you have that knowledge, you feel the need to do something about it.
Downvoted.
http://www.hhs.gov/ocr/privacy/hipaa/understanding/special/g...
"GINA protects individuals against discrimination based on their genetic information in health coverage and in employment. GINA is divided into two sections, or Titles. Title I of GINA prohibits discrimination based on genetic information in health coverage. Title II of GINA prohibits discrimination based on genetic information in employment."
I have just kept living my life the way I have been. It was scary at first. At least I know I ought to eat right etc...
I think if you are too afraid to know what your genes might say about your future then yes 23andme might not be a good fit.
Now if they would just add an edit mode...
References: http://alzheimer.neurology.ucla.edu/Curcumin.html http://www.ncbi.nlm.nih.gov/pubmed/20182027
http://freakonomics.com/2013/06/20/do-you-really-want-to-kno...
> The price of the full direct to consumer testing service in the United States has reduced from $999 in 2007 to $99 in 2012, and it is effectively being sold as a loss leader in order to build a valuable customer database.
First, why can't companies these days just sell me a product for the cost price plus a margin? This seems like a fair way of doing business.
Second, what do they want to do with my data? Why do they think it is valuable (will they sell it)? Why can't I just get my data without them keeping a copy of it?
(It isn't because they offer an online comparison/discovery tool, since they could easily offer that as a downloadable app, so they don't need my data on their servers; it also isn't because they need to do research on the data, i.e., to find correlations, because they could make that voluntary).
So your complaint of "why don't they just sell it at the cost plus a margin" doesn't work here. They're dropping the price because they're paying you for your information to make their service better.
It's like Tumblr not having ads (for a period of time). "Why are you giving this to me for free?" you ask. Because then you're more likely to use us, and then we'll have a bigger user base and make tons of money later.
That's how SAAS models can give away their "service" for free and still be valued at billions of dollars.
This is covered by my comment that participating in research should be voluntary.
> So your complaint of "why don't they just sell it at the cost plus a margin" doesn't work here.
Yes, my complaint makes perfect sense here. They are selling below cost price to build themselves a bigger market. This is not a fair way of doing business, in my opinion. The fact that you are framing this as "we are paying you to help us build a bigger market share" does not make a difference.
In my opinion, everything that is being built by crowdsourcing belongs in the public domain. It is not fair to have one company keeping that information hostage.
Why?
FDA put a stupid ban on them, and then they got something approved but that was a fraction of what they were offering previously.
Just another example of how politics and bureaucracy is hampering progress.
There's that number again...
:(