Other than that, all the things I've seen are marginally useful at best.
Other than that, all the things I've seen are marginally useful at best.
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.
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...
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'
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.