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I got a genetic test done with 23andme. It said I had a (greater probability of a) warfarin sensitivity. This was interesting because my grandma had a stroke after being given warfarin. The stroke put her in a wheelchair for the rest of her life - it ended her independence and she had to go into a home with 24hr care. It was horrible.

After this I got my entire family tested. As expected my mother carried the warfarin gene (the grandma was on her side of the family).

Knowing this information is hugely valuable to me. I think it's awful that the FDA deems fit to prevent me getting information about myself.

The problem becomes apparent if someone is "diagnosed" by 23andme as having a predisposition to something that they don't actually have. For example, your test says you're sensitive to warfarin and you choose not to have that drug administered in a time when your doctor says it would be the best option. Not only are the results questionable, perhaps warfarin is the only good option. If you refuse it based on an invalid test and you are seriously damaged by the lack of proper care, that's a problem.

I'm no expert, but it seems like the validity of these tests are being drawn into question. While it may help, it may also really hurt. Questioning these interpretations is exactly what medical science should be doing. You're not getting information about yourself, you're getting (to you) incomprehensible data and a guess as to what it means. Is that more valid than the family history that your doctor already has?

Humans tend to make emotional decisions when it comes to their own health. The goal of medical science is to get past the emotion (look at what this drug did to my grandma) and find provable facts instead.

For example, your test says you're sensitive to warfarin and you choose not to have that drug administered in a time when your doctor says it would be the best option.

Then you repeat the test. Your doctor may not have been considering that you may have a warfarin sensitivity, the doctor's family history may be incomplete, etc. etc. This is especially an issue with minority communities, whose medical issues are not as well dealt with by physicians, or medical science in general (minority = fundamentally less statistical strength). It's not a well-known fact, for example that asians tend to have statin sensitivity because of impaired clearance, a lower dose is equally effective in asians (although IIRC while effective in reducing cholesterol, endpoint efficacy of statins in preventing coronary disease is unknown in asians); to my horror I found my father was being prescribed the 'caucasian' dosage of statins, and then a year later, I took the 23andMe test and found that I'm homozygous to a codominant allele that is associated with dramatic increase the risk of myopathy when taking simvastatin. So here my dad is taking an inappropriate dosage of a drug that is likely making him sicker and maybe not even helping prevent coronary disease.

Now, the question you have to ask yourself, is, is it worth it to deny responsible people like myself the power to easily and cheaply obtain these sorts of decisions just to protect people who are going to get hysterical about information, even when there's a second layer of professional expertise that intervenes before any medical action is taken?

look at what this drug did to my grandma

But that is exactly, scientifically valid evidence. I think you are placing an unreasonable reverence on the 'validity' of medical 'facts' or the competence of medical authorities. After all, proper scientists aren't necessarily seeking provable facts but rather, disprovable assertions.

"Then you repeat the test."

What if the test is inherently flawed?

"look at what this drug did to my grandma"

Uh, that is purely anecdotal, n of 1 data, which is not scientifically valid evidence. This is what scientifically valid evidence begins to look like: http://www.nejm.org/doi/full/10.1056/NEJMoa1310669, which suggests the _opposite_ of what 23andMe says about warfarin sensitivity.

The point isn't that we shouldn't have tests for things such as warfarin sensitivity or statin sensitivity; it's simply that we need to have clinically VALIDATED tests for these medical conditions. Otherwise, without a clear understanding of the analytic and clinical validity of these tests, it's possible that many false positives or false negatives arise.

There's a reason why other genetic tests (e.g. Genomic Health's Oncotype DX or Myriad's BRCAnalysis) haven't been pulled by the FDA (in fact, they're not even regulated by the FDA!) - that's because they've gathered sufficient data to support the clinical outcomes and utility claims that they've made. Put more simply, these other molecular diagnostics have actually verified their science. 23andMe has not - that's why they're being regulated.

You mean what if the doctors second test is inherently flawed? Then you're screwed either way :/
look at what this drug did to my grandma

And this is exactly the sort of crazy nonsense that happens when you give medical information to laypeople without explaining it properly. Warfarin doesn't cause strokes, or if it does, it does so as a crazy and crazy unlikely side-effect in a vanishingly small number of patients. The common, dangerous, life-threatening side effect of Warfarin, the one you need to be worried about with a Warfarin sensitivity, is bleeding. Of course, Warfarin, when administed in a careful, low dosage to people with the sensitivity, may fail to prevent a stroke, but Warfarin almost certainly did not give the previous commenter's grandma a stroke, and it's driving me slightly crazy that this thread is causing people to think that it's some sort of common side effect.

The FDA is _not_ trying to prevent this information. It's trying to prevent 23andme from marketing a diagnostic product that doesn't meet diagnostic regulations.

They can't have it both ways. They can market and dump out your DNA data. Or they can meet regs, prove they are clinically accurate, then market it as a diagnosis product.

We'd not like random companies starting up and misleading people and claiming to diagnose but really just flip a coin. That's all the FDA is asking.

The diagnostic regulations are too stringent . They are preventing people from getting information that they want to pay for, 23&me is willing to provide, and that 23&me can justify. It's not like they're taking information straight off of SNPedia, they survey the literature on the alleles of the henes they test.
But they're selling things that aren't actually valid diagnostics as if they were diagnostic tests. In what sense is prohibiting that too stringent a regulation? It's not DNA-specific; if you set up a random lab that claimed to diagnose diseases from blood samples that you invite people to mail in, your lab would be shut down pretty quickly if you never validated the analyses.

If they want to sell DNA dumps and call them DNA dumps, that'd be truthful advertising. But if they want to make diagnostic claims, they need to actually back them up.

>It's not like they're taking information straight off of SNPedia, they survey the literature

That's the point. If they simply gave people raw results and told them to Google it, that'd be fine. They could even provide a report with hyperlinks to SNPedia. But that's not a very fun marketing message, is it? 23andme wants to sell itself as accurate diagnosis, without having to actually prove they're accurate. The FDA's letter said the FDA tried to contact them repeatedly about this issue, asked them to change language, and 23andme ignored them. What's the FDA supposed to do?

What's the FDA supposed to do?

They should crawl back into their bureaucratic cave and carve some hieroglyphics into the walls with pieces of flint, or otherwise find some way to occupy themselves while the world goes on quite well without their unnecessary interventions.

Warfarin sensitivity is _precisely_ why 23andMe needs to be regulated; 23andMe has NOT clinically (or analytically) validated any of the claims around the specific SNPs they've identified. All 23andMe does is link to research papers that may suggest that there are gene variants that are linked to warfarin sensitivity; however, these have not been validated to be clinically significant.

In fact, just last month, the New England Journal of Medicine published a landmark study around the pharmacogenomics of warfarin dosing, which found that this very genetic data does NOT affect/improve warfarin dosing (http://www.nih.gov/news/health/nov2013/nhlbi-19.htm, original paper: http://www.nejm.org/doi/full/10.1056/NEJMoa1310669). In light of this, this warfarin sensitivity information that you've obtained from 23andMe is almost certainly a false positive, and if you were on a prescribed warfarin treatment, 23andMe would've likely resulted in a change in your behavior that would be strictly detrimental to your health.

In light of this, this warfarin sensitivity information that you've obtained from 23andMe is almost certainly a false positive, and if you were on a prescribed warfarin treatment, 23andMe would've likely resulted in a change in your behavior that would be strictly detrimental to your health.

I don't think there is any valid basis for that claim. A rational person (and I only mean "somewhat rational", I'm not talking about an Econ101 "perfectly rational actor" here) would get their 23andMe results, go "hmmm, this is interesting" and line up a visit to their primary care physician to talk about the results, and what it might mean for their treatment... at which point additional tests might be indicated, or the doctor could more fully explain the various tradeoffs, implications, etc.

There's no particular reason to assume that people are going to randomly adjust their medications based on 23andMe results alone.

And, even if they do, so be it - the price of personal freedom is individual responsibility for the outcome of your actions.

If only most people where sufficiently rational to respond that way to things, we could do away with a whole lot of regulation of all kinds of things.
We can indeed.

This appears to be more a political issue than a scientific one.

This comment is the perfect example of why the FDA needs to be involved with this. They gave you very important medical information. Did they a) make sure the information was accurate and b) explain it to you in a way that's understandable to a layperson?

I can easily see a layperson reading that, and thinking "warfarin sensitivity"? As in "food sensitivity", meaning "this is something that isn't good for me, and I should avoid it?" Wait, isn't that the stuff that gave my grandmother a stroke? Holy shit, they killed my grandmother by giving her too much of a medicine that she's sensitive to!"

All warfarin sensitivity actually means, though, as far as I understand it, is that you're likely to need a lower dose than the average patient. If your grandmother had a stroke, it's unlikely that she was overdosed, though - in fact, it's quite likely that she received too low a dose.

If someone has a stroke under warfarin treatment, there are two likely causes: Either their warfarin dose was too low, or they had an artery-to-artery embolic stroke instead of the cardioembolic stroke the warfarin was supposed to prevent. (There are of course other, more rare cases of stroke, but those are the two big ones.)

Do you see how there's a huge potential for misunderstandings here? I'm not saying you suffered this particular misunderstanding, or that laypeople should be stopped from getting this information. I'm just saying, if you're going to put something like that out there and claim it's a diagnostic tool, it needs to be accurate and it needs to be explained, and that's where the FDA needs to come in.

Hank Greely is not a "genetics prof", he is a bioethicist in Stanford's Law School. He doesn't develop new genetic technologies. This is like calling a film critic a director.

http://www.law.stanford.edu/profile/hank-greely

> "Hank Greely is not a "genetics prof", he is a bioethicist in Stanford's Law School. He doesn't develop new genetic technologies. This is like calling a film critic a director.

http://www.law.stanford.edu/profile/hank-greely "

I'm not sure your assessment is entirely correct.

Here's an excerpt from the same page you linked to:

"Greely is also a professor (by courtesy) of genetics at Stanford School of Medicine."

I don't know how professorships by courtesy work at Stanford.

https://en.wikipedia.org/wiki/Professors_in_the_United_State...

Assuming that the content currently in that section of Wikipedia is correct and is congruent with how things work at Stanford, he is a "genetics prof".

Or we can just take his Stanford bio at face value.

Also, we should consider what the man has to say. Whether or not he "develop[s] new genetic technologies" is irrelevant if his opinions are valid and his facts are correct. If you take issue with the opinions he has or the facts he states, then address those head on.

The man's thoughts are being called upon because he is a domain expert in bioethics (and, as we've just found out, genetics). I think it would be a good bet that this man has a wealth of relevant domain knowledge with respect to state of the art genetics research, gene sequencing technologies, and genomics startups.

Qualification sniping tends to be a poor way of discounting what someone has to say.

It seems extremely, extremely clear from the page you linked ... look at the sidebar: Education: BA 1974 from Stanford, Law Degree.

He is a lawyer, and did not even get a science-related degree when he took his bachelor's (BA = Bachelor of Arts).

One does not need to possess a degree in order to be extraordinarily well educated in a particular field.

Conversely, possessing a degree in a particular field doesn't automatically make someone extraordinarily well educated in that particular endeavor.

Professor is just a senior teaching title. It does not require a degree at all, even though it usually does. All it will tell you is that the school believes he is qualified to do the work he's doing for them.
I'm honestly baffled by the reaction to this. You're absolutely right that it is extremely clear.

It says he is a director at the Center of Law and the Biomedical Sciences at the School of Law and that he is a Professor (by courtesy) of Genetics at the School of Medicine.

It literally says that in his bio.

Yet at least three people in this thread have felt the need to inform HN that "he's not a genetics prof" and then link to the bio of him that lists him as a Professor (by courtesy) of Genetics at the Stanford School of Medicine.

What does the education portion of your comment have to do with my comment? The comment I was responding to said he was not a Genetics professor, I responded by saying that he is a Genetics professor (according to his Stanford bio).

I wasn't saying that he was not a legal expert as well.

I am sorry, if you feel I am being snarky. But "by courtesy" plainly is used as some form of honorary title - if he had it "by merit" they would not use the term.

Given that the title of the article at least, implies that a person with deep knowledge of the science (not the ethics) of genetics is expressing an opinion, it seems fair to point out that there is no indication of deep math skills, or of chemistry, physics, biochemistry, etc. knowledge.

> " But "by courtesy" plainly is used as some form of honorary title - if he had it "by merit" they would not use the term. "

You know why the Stanford School of Medicine gave him that title? It wasn't for merit? And Stanford is using the "by courtesy" term differently than how it is normally defined?

> "Given that the title of the article at least, implies that a person with deep knowledge of the science (not the ethics) of genetics is expressing an opinion, it seems fair to point out that there is no indication of deep math skills, or of chemistry, physics, biochemistry, etc. knowledge."

Just to be clear, are you saying that you see no indication that Greely has a deep knowledge of the science behind his field of study-- based on the title and content of a ~700 word Venturebeat post?

I'm not going to comment on this thread anymore. If you want, you can look through his publications. But I doubt that would change your mind.

> He is a lawyer, and did not even get a science-related degree when he took his bachelor's (BA = Bachelor of Arts)

You cannot infer that a BA is not a science-related degree. Here is how Bachelor's degrees work in the US.

In the US, there is no inherent difference between BA and BS in math and science. What degree a given set of coursework earns is entirely up to the school. All of the following exist in the wild:

• BS is the only choice. (Caltech, for example. In fact, Caltech only offers BS for everything. Even English majors--and yes, there is an occasional English major at Caltech--end up with a BS).

• BA is the only choice. UC Berkeley is an example in this category for math and physics.

• Both are offered, with identical coursework and requirements. You can have whichever you want. Some will even for a small fee give you two diplomas, so you can use whichever seems appropriate for the situation.

• Both are offered, from the same department, with different in-major coursework and aims. One may be aimed toward students aiming to go into research, and one toward those aiming to go into teaching, for instance.

• Both are offered, from different departments. For example, UC Berkeley's College of Letters and Sciences offers a BA in chemistry, and the College of Chemistry offers a BS in chemistry. Computer science can be taken at Berkeley in the College of Letters and Science for a BA, or in the College of Engineering for a BS.

• Both are offered, with the same in-major coursework, but differ in out-of-major requirements. So, the BA and BS would require the exact same science and math courses, but the BA has specific breadth requirements to produce a well rounded education, whereas the BS lets you take pretty much what you want as long as you satisfy the math and science requirements and any general requirements of your school.

In the particular case of Stanford, most Bachelor's degrees in science are BS, but they have a Human Biology program that issues BA, not BS [1], so unless you checked his specific degree, your inference is unfounded.

[1] http://exploredegrees.stanford.edu/schoolofhumanitiesandscie...

Were the raw data consistent? I can understand that the 3 companies were interpreting the raw data differently, but were the underlying snp frequencies consistent?

If they are not consistent, then the whole thing is pointless and they need to work on better kits. If they are consistent, it still doesn't say much.

Genome wide association studies (GWAS) are very hard to control. And most papers tend to ignore external factors when they conduct the analysis. Do these group of people have this phenotype because of particular snps or do they have it because they have similar diets, similar geographic area, similar age range?

not a genetics prof - a law prof.

http://www.law.stanford.edu/profile/hank-greely

> "not a genetics prof - a law prof.

http://www.law.stanford.edu/profile/hank-greely "

From the page you linked:

"Greely is also a professor (by courtesy) of genetics at Stanford School of Medicine."

It seems that he is a Professor (by courtesy) of Genetics, he is on the Steering Committee for Biomedical Ethics, and is a director at the Center of Law and the Biosciences.

Here is my other comment on the matter:

https://news.ycombinator.com/item?id=6994518

Normally you would assume that if someone is a genetics prof., they would have some formal training in genetics. Which in this case is not true. He was trained in a law school, but is now cooperating with genetics and medicine people.
The only thing I disagree with in your comment is the "Which in this case is not true." portion.

We cannot make that inference based on the information in the article and the bio that has been linked exhaustively in this comment section. Please see the comment from 'tzs: https://news.ycombinator.com/item?id=6994924

If someone has more information, I suppose they could step forward; but I really think we should hew in the direction of addressing arguments instead of dissecting qualifications. That's not to say you should never question qualifications, it's just that it's so much better to address arguments. And it was really weird that people short circuited to dissection mode, as though we should simply ignore the man and move on. (I'm not trying to imply this about your comment.)

The rest of this comment isn't really directed at you, I just want to append the rest of my thoughts here.

I was really surprised to see some of HN get so hung up on the formal training of an interviewee in an otherwise relatively benign article. It seems like the kind of thing that HN would usually embrace.

After all, are we really going to ignore the 115+ publications that Mr. Greely has either been an author or co-author of? Many of which are in leading journals of fields relative to this discussion. Are we going to discount the decades he has spent studying and interpreting this domain? Does the fact that, for whatever reason, Stanford has acknowledged his expertise in multiple areas relevant to this discussion not count for anything? How exactly do we weight this demonstrated experience vs. formal qualification?

What is frustrating to me about a couple comments here is that they got hung up on the wording of the venturebeat post and then short circuited to qualification sniping mode.

I think it would be more productive to address the interviewee's related opinions and stated facts.