You have no business telling other people what information they can or cannot acquire, and by what means they do so. Even if you're right, you still have no business dictating to others what they can and cannot do, simply because you consider yourself to be more learned and qualified to make a diagnosis.
I went to the doctor. I needed to have specific tests done, because my ethnicity is prone to very specific genetic defects in children. My wife and I needed to know if we had the appropriate markers and if precautions should be taken. I was quoted $3000 per person. That would be $6000 for myself and my wife.
23andme does those same tests and more, for $100 each. On top of that, our doctor is willing to use their results and add it to our medical records.
Again, who declared you or anyone, fit to determine which information I'm privy to and how I go about retrieving it?
> you still have no business dictating to others what they can and cannot do, simply because you consider yourself to be more learned and qualified to make a diagnosis.
You cannot lie to the consumer about your product.
Who lied? 23andme is a social network with a twist. They are not pretending to be your doctor. In fact, they make you read various disclosures that reinforce that self-obvious fact.
I was responding specifically to the claim that "you still have no business dictating to others what they can and cannot do." As far as 23andme is concerned, if they are not making any medical claims then they should have nothing to worry about. The linked to article linked to another article that said as much.
This is EXACTLY my point. Your arrogance in assuming that I don't know that and then as a consequence, crowning yourself qualified to make that decision for me. That is unbelievably fucked up.
Neither you nor the FDA have the MORAL right to make that decision for me. Maybe my wife and I can't afford 6K? Maybe our insurance doesn't cover it?
You have no idea how informed I am. You have no idea what my financial situation is. You have no right to make those sorts of decisions for me.
The FDA should stick to its mandate. It's the Food and Drug Administration, not the Anything-Remotely-Medical Administration. My genome is MY genome. Nobody has a right to it but me. NOBODY can tell me when or how I can access it.
I don't know your circumstances, and you don't know mine either. I am sorry that you have to deal with this though...
I'm not saying that you don't have the right to know what your genome is. I'm saying that you have the right to get accurate information about what it means...
My apologies, mbreese, but I actually must go through your comment line by line. You seem like a good guy, but you are way off base about a lot of the facts here.
Your quote from the doctor was for an FDA regulated
diagnostic test, with a known error rate.
FDA validated diagnostics generally have much, much smaller sample sizes than 23andMe. For example, this FDA approved diagnostic only has a few hundred samples tested:
23andMe has done tens of thousands, on much more highly varied populations (including many South and East Asians in addition to Caucasians). Their confidence intervals are just much tighter.
The 23and me test is not a diagnostic and doesn't have a
known error rate for such purposes.
No. The error rate of iSelect custom assays is well known and can also be empirically estimated from the above data.
I know affymetrix (their vendor) has been working in
getting things approved for diagnostic uses, but I don
think that snp chip has been approved yet.
Affy's genotyping platform was approved many years ago. 23andMe does not use Affy, but rather Illumina.
So, even if you were cleared for the genetic condition by
23andme, could you trust the results to make a clinical
judgement? So far the FDA says no. And if I remember
correctly, I'm pretty sure 23andme would agree.
Several different issues are being confused here:
* whether the test is "diagnostic grade"
* whether 23andMe says the test should be used for medicine
* whether the FDA will permit 23andMe to sell the test at all
* whether all applications of genetics are medical
* whether there is even any point in distinguishing between medical and nonmedical interpretation when "interpretation" often just means "Googling the variant" or "looking up the Pubmed papers"
These techniques work for research because you always run
replicates, so any random error is taken care of.
The raw base accuracy of these platforms is not really at issue. The primary source of error is not genotype assessment, but the genotype/phenotype maps derived by researchers in the literature.
You can easily tell whether someone has an A/A at a position. You cannot easily tell whether that "A/A" means that they will come down with a complex condition like diabetes.
The key question is whether you believe 23andMe should be free to report what was openly published in Pubmed about that "A/A" variant's effect, or whether they need a $50 million government license to do this.
The CFTR test you mentioned is a PCR test, the Illumina arrays are hybridization, correct?. If so, the two tests are not directly comparable in terms of error rates.
I know that hybridization assays have good error rates, but that errors in calls do happen. Any time you test that many SNPs, errors happen. Do you also get the confidence measures for each call? But, I agree, this isn't really the issue.
As I said below, I'm not trying to say that 23andMe shouldn't exist. I actually like them very much, and think that they've done a great job at getting the general public to understand how genetic variation affects your chances of developing a complex disease. I also think that they have an amazing data set that they can use to mine more genotype/phenotype interactions. I think that 23andMe are one of the good guys in this.
But I do think that there needs to be a line between performing genotyping and giving out medical advice. I don't know where that line needs to be drawn.
For example, the 'A/A' variant you used may be reported to be involved in diabetes in one paper, and then later explicitly found to not be involved in another. So, what do you tell the person who has the variant? What about after the second paper is published?
Here's another example: a single deletion in CFTR (well, triad causing the loss of a phenylalanine) is responsible for 70-80% of cystic fibrosis cases. The remaining 20-30% are caused by hundreds of other variants. What if someone was concerned about being a carrier, and used one of the personal genetics services to find out. What if they had one of the rare variants and it wasn't on the array? They should have a medical professional help them interpret their results in order to make sure that they know the limitations of that testing.
Final case: Let's say someone submits their DNA for genotyping and are told that they have the Huntington's variation. It would be grossly negligent to tell someone this without some degree of medical/genetic counseling follow-up.
With all due respect you don't seem to know much about this space. The vast majority of laboratory developed tests (including millions upon millions of blood and urine tests done every year by LabCorp and Quest) are not cleared by the FDA. They are regulated by CLIA, like 23andMe is.
So we are not debating "zero" vs "some" regulation. This is a turf war between two agencies in HHS: FDA vs. CMS. It has nothing to do with safety and everything to do with jurisdiction and funding dollars. FDA is also going after other "sister" agencies within HHS, like Blumenthal's ONC, to take over regulation of EMR and get the bling.
If Shuren can get both LDTs and EMRs classified as "medical devices", he will at a stroke have increased CDRH's ambit from just "medical devices" to all laboratory tests and all medical records in the US. It will no longer be a distant third in funding to CDER and CBER, the drugs and biologics/vaccines groups in the FDA. And budgets will be increased to match.
What we are debating is whether 23andMe should face $50 million of regulatory costs (to get a 510k through the FDA) vs. $5 million of regulatory costs (the ballpark amount to get a CLIA lab running).
"The cost of clearing a device through the existing 510(k) program may range from less than $1 million to as much as $50 million, compared with $50 million to $150 million under a more- stringent FDA program for higher-risk devices such as heart pacemakers"
I deleted the parent because I mistakenly thought they were using Affy SNP chips. I don't remember why I thought that, but you're correct in that they are using Illumina SNP arrays. This doesn't explicitly change what I was trying to say, but I hit the delete link a bit hastily.
My understanding is that the labs that run the tests are under CLIA, but diagnostic tests themselves are under FDA.
I think you are misunderstanding my point... my point is that there should be a big distinction between having access to your genomic data and having someone tell you what it means. Illumina's disclaimer is very clear (http://www.everygenome.com/about_us/our_lab.ilmn): They do not give you a diagnosis, medical advice, or a treatment recommendation. They give you a genome that you can take to your doctor and then discuss the results. In general, genotype data isn't something that you can easily interpret on your own (with few exceptions), and that interaction should be regulated.
So I assume you are also against FDA regulation to force pharma companies to list adverse reactions alongside there drug commercials? If you are, then the discussion is mute, if you aren't then your point is.
You have no business telling other people what information they can or cannot acquire, and by what means they do so. Even if you're right, you still have no business dictating to others what they can and cannot do, simply because you consider yourself to be more learned and qualified to make a diagnosis.
I went to the doctor. I needed to have specific tests done, because my ethnicity is prone to very specific genetic defects in children. My wife and I needed to know if we had the appropriate markers and if precautions should be taken. I was quoted $3000 per person. That would be $6000 for myself and my wife.
23andme does those same tests and more, for $100 each. On top of that, our doctor is willing to use their results and add it to our medical records.
Again, who declared you or anyone, fit to determine which information I'm privy to and how I go about retrieving it?