Please Support Genetic Freedom

March 13, 2011 7:28 AM

Should you be allowed unrestricted knowledge of your own genetic makeup? Or should your doctor be the one to decide how much you can know about your own genes? Currently direct-to-consumer (DTC) genetic testing companies (such as 23andMe) allow consumers to discover which genes they have inherited. But some influential people are arguing that the general public is harmed by the ability to freely access this type of information. The American Medical Association is urging the FDA to make it so that genomic information is only available to a person through a personal physician or medical counselor. As a counterpoint the geneticists at the Genomes Unzipped website provide a six point statement on why People Have A Right To Access Their Own Genetic Information.

The Genomics Law Report website summarizes the most recent FDA conference on DTC genetic testing, and notes that you should make your voice heard if this issue is important to you.

Here is additional information on how to share your opinions on the issue with the FDA or congress.

posted by Jason Malloy (98 comments total)

Razib Khan noted his opinions on the matter here and here.
posted by Human Flesh at 7:36 AM on March 13, 2011 [1 favorite]

Where in the AMA genome can I find the rent-seeking gene?
posted by orthogonality at 7:38 AM on March 13, 2011 [60 favorites]

I arrived back at my office the other day to the CBC interviewing my brother about this very topic. Somehow they managed to sucker me into the look like you're talking about something to do with work shot.
posted by gman at 7:40 AM on March 13, 2011 [4 favorites]

The AMA's letter (which is the subject of the opinion piece linked here) gives some compelling reasons for having a trained professional help people understand their test results. In part:

Without the guidance of a physician, genetic counselor, or other genetics specialist, test results could be misinterpreted, risks miscalculated, and incorrect health and lifestyle changes pursued. At the very least, consumers will waste money purchasing tests with little value. A 2010 report issued by the Government Accountability Office (GAO) included startling findings from an undercover audit of commercial entities offering genetic testing, including inconsistent and conflicting test results, invalid scientific claims, and, in a clear violation of rules governing who may practice medicine, unqualified company employees providing misleading and inaccurate diagnostic information concerning a customer’s genetic test results. These finding underscore the Division of Dockets Management (HFA-305) importance of regulatory standards by which these commercial entities should be required to
abide.

Here's an example of how that looks on AskMe.
posted by Houstonian at 7:40 AM on March 13, 2011 [7 favorites]

"For diseases such as colon cancer, breast or pancreas, family history is still a prediction tool much more powerful than commercial tests."
posted by Faze at 7:41 AM on March 13, 2011

So the fear here seems to be that if people know that they are at a lower risk of Disease X they might not get tested or screened for it. Or they might engage in behaviors that are risk factors for Disease X, thinking that their genes make them invincible.

These are fair concerns, but first the AMA (or whoever) should prove that people make those kinds of bad judgments. And second it should prove that they are significantly less likely to make those kinds of bad judgments if they get their genetic information from a doctor. And third it should prove that the social benefit of restricting genetic testing outweighs the increased cost to patients and reduction in access. Anything less is just fear-mongering and slippery slope nonsense.

Regarding the GAO report: did it find that doctors do a better job at least as cost-effectively? Because that's what we have to know if we're going to restrict it to doctors. If the only concern is that both doctors and the private testing companies do a crap job, then by all means regulate both. But creating a monopoly without good evidence to support it is a bad idea.

That said, the post title is needless editorializing.
posted by jedicus at 7:45 AM on March 13, 2011 [10 favorites]

I'm a lot more concerned with rights regarding NOT having others know my genetic information, and with the notion of patenting genetic information. This is a related cousin.
posted by meinvt at 7:48 AM on March 13, 2011 [12 favorites]

The biggest problem I see here is that this makes it damn near impossible to send a sample anonymously, which means insurance companies are much more likely to co-opt your personal data somehow. On the other hand, how is an AMA ruling going to stop the proliferation of offshore genetics companies? The AMA isn't going to keep you from sending a saliva sample to India.

As one who's used 23andme, and considering how widespread pseudoscience and crackpottery is, there's a lot of potential for people to come to all kinds of false conclusions about their results (and those of their family members), though I'm not sure if it has any potential for harm. In this instance I think the AMA needs to educating and maybe at the same time further its own country's fledgling genetics industry.
posted by crapmatic at 7:51 AM on March 13, 2011 [4 favorites]

Already got genome_BeerFilter_full.zip saved in multiple locations. They're gonna have a hard time convincing me to be the gatekeepers of that information. I'll share it with them if need be but not giving up mah nucleotides.
posted by BeerFilter at 7:51 AM on March 13, 2011

Are they your genes or your parent's genes?
posted by Brandon Blatcher at 7:52 AM on March 13, 2011 [3 favorites]

So the fear here seems to be that if people know that they are at a lower risk of Disease X they might not get tested or screened for it. Or they might engage in behaviors that are risk factors for Disease X, thinking that their genes make them invincible.

No, the AMA's letter does not say that.
posted by Houstonian at 7:52 AM on March 13, 2011

Another way: are the genes mine or do I belong to the genes?

Also, hypochondriacs gonna hypochondria.
posted by BeerFilter at 7:55 AM on March 13, 2011 [2 favorites]

jedicus, there's also a number of diseases and disorders for which identification of the gene means certain disability and death, Huntington's Disease being probably the most well-known. Suicide rates spike dramatically around Huntington's diagnoses, and an in-depth three-part clinical evaluation (including a psych evaluation and genetic counseling) is required to get the gene test at most medical centers. There's good reason to be alarmed about what would happen to people (and their families) who receive such debilitating news completely outside a clinical context, without any access to accurate medical facts (as opposed to often-inaccurate conventional wisdom) or to the most recent research in the field.

I don't see this as merely rent-seeking; limiting direct consumer access to genetic information will in this arena at least save lives. Whether or not that's a sufficient reason to limit access may remain up for debate, but I'm not convinced at all that WebMD and a home genomics kit are a sufficient substitute for expertise.
posted by gerryblog at 7:59 AM on March 13, 2011 [7 favorites]

None of those reasons seem very compelling to me, Houstonian. The fact that right now I can get tested anonymously by people who are 100% certain not to share my genetic information with any insurance company, however, is extremely compelling.
posted by enn at 8:00 AM on March 13, 2011 [9 favorites]

At the risk of derail, we could always decide to do away with insurance companies rather than cutting doctors out of the loop.
posted by gerryblog at 8:02 AM on March 13, 2011 [8 favorites]

No, the AMA's letter does not say that.

Really? What is this, then: "Without the guidance of a physician, genetic counselor, or other genetics specialist, test results could be misinterpreted, risks miscalculated, and incorrect health and lifestyle changes pursued." That sounds an awful lot like not getting tested or screened or engaging in risky behaviors.

I don't see this as merely rent-seeking; limiting direct consumer access to genetic information will in this arena at least save lives.

And that seems like an area where it can be (and sounds like it already has been) demonstrated that the genetic test results need to occur in a particular medical setting. I'm not ideologically opposed to a medical monopoly on genetic testing. I just think it needs to be supported by good evidence.
posted by jedicus at 8:05 AM on March 13, 2011 [1 favorite]

At the risk of derail, we could always decide to do away with insurance companies rather than cutting doctors out of the loop.

Then maybe the AMA should get back to us on genetic testing once they've gotten that one squared away.
posted by enn at 8:08 AM on March 13, 2011 [3 favorites]

We could also extend GINA protections to individual, non-group health-insurance consumers, as well as extend the requirements to life and disability insurance companies (to which they do not currently apply).
posted by gerryblog at 8:15 AM on March 13, 2011 [6 favorites]

The medical industry doesn't want you looking too closely at their corporate assets.
posted by telstar at 8:25 AM on March 13, 2011 [5 favorites]

The American Medical Association is urging the FDA to make it so that genomic information is only available to a person through a personal physician or medical counselor.

Fuck you, AMA and while you're at it give me back my eyeglass prescription too.
posted by DU at 8:28 AM on March 13, 2011 [11 favorites]

So the fear here seems to be that if people know that they are at a lower risk of Disease X they might not get tested or screened for it.

The implication being that doctors, who are beholden to profit-driven insurance companies, will test someone for a lower risk disease?
posted by DU at 8:30 AM on March 13, 2011

But some influential people are arguing that the general public is harmed by the ability to freely access this type of information.

If you think that's bad, imagine if people had unrestricted access to the contents of their own minds! What a disaster that would be!
posted by interrobang at 8:33 AM on March 13, 2011 [12 favorites]

limiting direct consumer access to genetic information will in this arena at least save lives.

Oh, come on, that's just nonsense. Do you really think that - upon receiving the results of an off the shelf genetic test - someone would immediately take their life instead of consulting a doctor?
posted by rh at 8:34 AM on March 13, 2011

I already have the right to access my complete medical records, at least according to the privacy statements I keep signing. Why should this be any different?
posted by yeolcoatl at 8:38 AM on March 13, 2011 [2 favorites]

The American Medical Association is urging the FDA to make it so that genomic information is only available to a person through a personal physician or medical counselor.

That's pretty insane. And of course people could simply get their testing done overseas.

I think people don't really realize how much of a problem the AMA actually is. They are a lobbying group for the benefit of doctors not a group that works to ensure the best medical care for Americans. They are actually a major reason why healthcare is so expensive in the U.S. They restrict the number of doctors who graduate each year to ensure an undersupply.
posted by delmoi at 8:40 AM on March 13, 2011 [27 favorites]

Dear AMA,

Thank you for your opinion re: not seeing my DNA sequence. Could you please send me a list of other parts of my body I'm not allowed to look at? Thank you.
posted by PlusDistance at 8:40 AM on March 13, 2011 [20 favorites]

Oh, come on, that's just nonsense. Do you really think that - upon receiving the results of an off the shelf genetic test - someone would immediately take their life instead of consulting a doctor?

Yes. Remember that people with Huntington's Disease and similar diseases have likely already seen a parent suffer and die from it. They may have spouses and children they wish to protect.

This study is from 1993 but shows a rate of 7.3% among HD sufferers. The rate in the regular population in the U.S. is, if I did the math right, is .01%.
posted by gerryblog at 8:43 AM on March 13, 2011

...cutting doctors out of the loop.

Interesting way to put it; to me it looks more like "not forcibly inserting doctors into the loop." Pretty different.

The AMA's position strikes me as offensively parental, as well as having an obvious financial conflict of interest. Somehow I doubt their members are going to be providing these services pro bono.

But as others have pointed out, all they're going to do if they "win" this particular argument is decimate the U.S. DTC genetics industry. Other countries not run by rent-seeking doctors' cartels will still offer the service, so I doubt the effect to consumers will be that significant. Unless the AMA can get Customs and Border Protection to start sterilizing all the outgoing mail.

In addition to Pakistani eyeglasses and Canadian prescription drugs, Americans can perhaps look forward to Brazilian or Indian genetic testing, in order to avoid getting reamed versus what the rest of the world is paying.
posted by Kadin2048 at 8:44 AM on March 13, 2011 [3 favorites]

The solution to misunderstood information is not hiding the information. It's correcting the misunderstanding.

This is exactly like the "nuclear power plants exploding in Japan" MeTa thread. People will only trust the word of authorities if those authorities are working in the people's interests. Things like past lies about the consequences of natural disasters and preventing people from knowing their own medical information is the opposite of that.
posted by DU at 8:46 AM on March 13, 2011 [4 favorites]

Again, it's not an argument that the AMA is right BECAUSE of a slim number of people with particularly at-risk genomes might suffer. I'm not at all sure that they are right. It's just recognizing that the AMA has significantly better reasons than just "gimme money."
posted by gerryblog at 8:47 AM on March 13, 2011 [1 favorite]

Yes. Remember that people with Huntington's Disease and similar diseases have likely already seen a parent suffer and die from it. They may have spouses and children they wish to protect.

This study is from 1993 but shows a rate of 7.3% among HD sufferers. The rate in the regular population in the U.S. is, if I did the math right, is .01%.

a) So? It seems like "not dying from a really fucking nasty disease" is a pretty good reason to kill yourself.

b) Is there some evidence that a doctor telling you "you're going to die horribly of a really shitty disease" results in a lower suicide rate than reading "you have genetic markers for Huntington's" from a piece of paper?

c) Why is it actually desirable to reduce the suicide rate amongst this population? How does it benefit the individual or society for them to suffer?
posted by Netzapper at 8:48 AM on March 13, 2011 [9 favorites]

It's just recognizing that the AMA has significantly better reasonsstated justifications than just "gimme money."
posted by DU at 8:50 AM on March 13, 2011

Better not let them know about AskMe.
posted by adipocere at 8:51 AM on March 13, 2011

a) So? It seems like "not dying from a really fucking nasty disease" is a pretty good reason to kill yourself.

The gene marker test will tell you that you will get sick but it won't tell you when, or what treatments might develop in the meantime. It could be decades away.

b) Is there some evidence that a doctor telling you "you're going to die horribly of a really shitty disease" results in a lower suicide rate than reading "you have genetic markers for Huntington's" from a piece of paper?

Well, part of the point of the evaluation I was talking about is to evaluate whether or not a person is ready to hear the news, or whether they're likely to hurt themselves upon finding out. The clinical setting acts as a gatekeeper to protect people who might be at risk from hurting themselves. It also provides support in the moment of discovery, as well as, as I mentioned, more accurate and even more uplifting information than they are likely to receive from Wikipedia or family memory.

c) Why is it actually desirable to reduce the suicide rate amongst this population? How does it benefit the individual or society for them to suffer?

Oftentimes the group is responding to fears that are not based in reality, or knowledge that is decades out of date. Also, again, a genetic marker for Huntington's Disease doesn't tell you when you'll get sick, only that you (eventually) will. A person can have many good and happy years even with the gene between now and then.
posted by gerryblog at 8:54 AM on March 13, 2011 [2 favorites]

The gene marker test will tell you that you will get sick but it won't tell you when, or what treatments might develop in the meantime. It could be decades away.

Okay, fair enough then.

Although, I wonder if perhaps we should be making sure that people know so that they don't have children and pass on genetic disorders.

I guess I'd rather see people educated rather than have knowledge (of themselves!) restricted.
posted by Netzapper at 8:59 AM on March 13, 2011 [2 favorites]

I think, like a blood test, people should be able to analyze their own specimens and get raw data. In fact, in some states, Direct to Consumer blood tests are banned.

However, when it comes to interpreting the data, I tend to agree with the ADA. Someone untrained for medical diagnosis should not be giving medical diagnosis. People tend to believe that genetic tests (and most kinds of medical tests) are absolute truth when the reality is far more uncertain. 90% of people ordering these kinds of tests don't even know about sensitivity and specificity.

I think that consumers should be able to get the tests, but the companies providing them should have to make it crystal clear that they don't mean anything unless you know how to read them and encourage people to talk to licensed medical professionals to get any real knowledge out of them.
posted by demiurge at 8:59 AM on March 13, 2011 [4 favorites]

Other countries not run by rent-seeking doctors' cartels ....

Such as where? The nanny state coddling is even worse in place where the nanny state actually, you know, exists.
posted by three blind mice at 9:01 AM on March 13, 2011

I cannot believe that anyone thinks I don't have the right to know the contents of my own genome. I've spent about a year with a medical issue. I have been far more accurate in the diagnosis of what's going on than any of the doctors I have been to. So yeah, this is BS.
posted by Windopaene at 9:06 AM on March 13, 2011 [1 favorite]

Here's the problem.

If medical care is free (or cheap) and easily available, I may have a philosophical problem with DNA testing by doctor's prescription only. But not so much a practical problem.

But in the US, medical care is expensive and rationed, with specialists often only available after seeing a generalist, getting his sign-off and the insurer's permission.

I have PPO coverage, but due to a number of doubts about what I'm covered for, when, and how much the insurer will try to screw me, I don't get adequate care for chronic problems -- and when I do get care, I still find that I need to pay multiple specialists multiple fees that can apparently never be known (or assuredly covered) up-front.

So even with insurance, it's tempting to me to by a prick-your-finger and send-in-your-blood kit from the drug store, rather than deal with getting an appointment, waiting for it, then waiting to see what got covered, then calling several doctors, techs, and labs to see what I owe them, and then getting the results.

And without insurance? Good night! Then I get to pay the rates that insurance companies haven't negotiated, which means I get to subsidize everyone on insurance and everyone without insurance and too poor to pay.

So, AMA: once you figure out a way that an emergency room visit isn't $2000 for sitting there for three hours, plus a separately billed $600 for the attending's five-minute glance at a chart, plus a separately billed $150 for the xray teach, plus a separately billed $800 for the blood work, once you do that AMA, let's talk abouhan mt how it's better for me to take off work and come to your office so you can send my sample to 23andMe, rather than me doing it myself, OK?

Medical care is broken in the US, that's why (with the internet and mail order and overseas surgery) Americans are finding -- and having to find -- ways to cut their doctors out of their medical care.
posted by orthogonality at 9:06 AM on March 13, 2011 [41 favorites]

...they don't mean anything unless you know how to read them and encourage people to talk to licensed medical professionals to get any real knowledge out of them.

This is the more general point I was trying to make that the vividness of the Huntington's case may be obscuring. Drawing proper conclusions from a genetic test is hard and requires expertise; there are good reasons besides greed to keep the tests in the hands of doctors and work instead at increasing access to medical care and adding additional genetic-nondiscrimination protections to the law.
posted by gerryblog at 9:08 AM on March 13, 2011

Fuck you, AMA

It's worth remembering that only about 20-22% of doctors and med students in the USA are members of the AMA, and the number has been declining.
posted by mediareport at 9:08 AM on March 13, 2011 [11 favorites]

I'm surprised anyone's even talking about this, because for instance unless the Beijing Genomics Institute also agreed to go along with this rule, it would only result in the rather trivial impediment of having send your tissue sample to China for genotyping.
posted by Coventry at 9:15 AM on March 13, 2011

When I started to suspect that diabetes might be the root cause of a lot of seemingly unrelated nasty little problems that popped up during my 30's, I was mildly surprised to find that I could walk into Wal-Mart without a prescription and just buy one of those nifty little machines that tells you your blood glucose level. It was simple, easy, and the best thing I ever did for myself. 110 fasting? 200 after eating a Snickers bar! I stopped eating anything that made that shit happen, and my health improved 1000%.

After going through several hundred test strips I learned that I had a bad problem of after-meal spiking, and cutting carbohydrates out of my diet pretty well fixed the problem. I also know that I'd have been very lucky to find a doctor who would have told me to do what I did. Most likely I wouldn't have been diagnosed at all, since fasting=110 is "not a problem right now, come back next year." Most doctors don't order a tolerance test because it's more expensive than a fasting level test. And very few suggest trying to control it by diet, since it's canon that nobody will stick to a diet like this anyway. Most likely I'd have been prescribed Metformin, which thanks to the magic of offshore pharmacies I found out doesn' t work for me, at all. But a drug which does solidly help the situation is, surprisingly, ethyl alcohol.

So fuck you, AMA. You can pry my knowledge of my own body out of my cold, dead hands. You failed to figure out what was wrong with me as I sickened for a decade. I don't trust you with this either and if I have to send my saliva to India to learn what I need to know, that's what I'll do.
posted by localroger at 9:24 AM on March 13, 2011 [26 favorites]

If people are getting bad results from these companies then shut down the companies or regulate them, but try to limit access to information and you come off as a Tea Party candidate.

There idea that a GP will be up-to-date on genetics is also a bit silly. You'd need either a genetic counselor or a specialist to get the full results.

They could also do these like an other test results I get. Give the score, tell what is considered outside the normal range.
posted by cjorgensen at 9:28 AM on March 13, 2011 [1 favorite]

Send the results to Multivac, c/o Mountain View. It'll tell you what to do.

What, like you wouldn't?
posted by Devonian at 9:37 AM on March 13, 2011 [1 favorite]

The solution to misunderstood information is not hiding the information. It's correcting the misunderstanding.

Exactly, and I would start by at least teaching molecular genetics in medical schools. After a lifetime of working in the field of genetic, first as a Cytogenetic tech (chromosomes) and then as a Molecular genetic tech (DNA and RNA), would I ask a MD for his interpretation of my genetic makeup? Only if the MD specialized in Genetics.

I would consult a Genetic Counselor, whose knowledge I respect tremendously. Beside the GC training (it takes three years to obtain a Master in GC) a Genetic Counselor present the facts, but also the resources available to dealing with genetic problems, from special schools to support groups. Most important they receive extensive psychological training so that they can truly help with the bad news.

Genetic has come a long way from the one gene, one disease model and when twenty or so genes together are responsible for a specific phenotype interpretations become difficult. I believe that general public is able to understand the results of FV, PT, MTHFR, HR2 (a partial list of genes contributing to thrombotic events), but I if my family had a history of Fragile X or any other triple repeat disorder I would consult a Genetic Counselor.
posted by francesca too at 9:37 AM on March 13, 2011 [3 favorites]

I fully support the unrestricted access to your own genetic sequence. However, it seems obvious that interpretation of that information and related diagnoses should be made by, y'know, a trained medical professional. Pursuing therapies based on a private company's interpretation of your genetic data is better than consulting a doctor? Hmmmm.

According to Wired: DTC genomics customers are far better equipped to interpret their results than their doctors are. Yeah, I kinda doubt that. Doctors go through 7-14 years of training in order to learn how to interpret the results of medical tests. And no, IANAD, but I have seen a significant number of them over the last 3 years.

There's a reason doctors have to be board certified to administer a number of diagnostic tests. And, many hospitals are moving towards even greater patient access to their own medical care, not less. For example, at Stanford I can access all my reports, scans, tests, etc. online. However, I couldn't order my own CT scan, attempt to interpret results, and then pursue therapies based on my layman's understanding of the scan. That is something I think should be the purview of a doctor.
posted by Existential Dread at 9:40 AM on March 13, 2011

a) So? It seems like "not dying from a really fucking nasty disease" is a pretty good reason to kill yourself.
[...]
c) Why is it actually desirable to reduce the suicide rate amongst this population? How does it benefit the individual or society for them to suffer?

Wait. People with Huntington's are real people, and some of them may be reading this thread, and they probably don't need to hear all about the way it makes perfect sense for them to kill themselves, since their suffering is no good to anyone. While I think we should respect the decisions of particular people with the disease to end their lives, that doesn't mean it's the place of random passers-by to make blithe pronouncements on whether life is worth living for an entire group of people. People are more than their diseases, and they are more than the futures they imagine. There is the potential for happiness even in miserable circumstances, and there is also real hope that medical science will eventually be able to help treat people in more substantial ways.
posted by two or three cars parked under the stars at 9:41 AM on March 13, 2011 [11 favorites]

The first sentence of the AMA letter has a key bit of information that's being overlooked.

The American Medical Association (AMA) is pleased to offer its comments to the Molecular and Clinical Genetics Panel (Panel) regarding direct to consumer (DTC) genetic tests that make medical claims.

So it's really not clear to me that they're for restricting all genetic testing, just non-physician directed testing like this bullshit.
posted by electroboy at 9:42 AM on March 13, 2011 [2 favorites]

I really think this is the wrong discussion. The right discussion would be about guaranteeing universal access to medical care, so that everyone would be able to see a competent professional to find out about their medical risks and learn about how to interpret test results. Perhaps the AMA could devote some of their considerable resources to figuring out how to make that happen? Because until they do, I'm going to admit that they have very little credibility with me on any other issue.
posted by craichead at 9:49 AM on March 13, 2011 [9 favorites]

Also, what demiurge said.
posted by Existential Dread at 9:49 AM on March 13, 2011

The medical field's paternalism is sickening. Give me my raw genome data and an open source website like SNPedia and I'm a happy biohacker.

And how much will those AMA guys wring their hands when they find out some of us go so far as to upload some of our results to public databases like GenBank? Oh noes!
posted by Asparagirl at 9:49 AM on March 13, 2011 [1 favorite]

...or upload to GitHub!
posted by Asparagirl at 9:50 AM on March 13, 2011

And how much will those AMA guys wring their hands when they find out some of us go so far as to upload some of our results to public databases like GenBank? Oh noes!

I have a feeling they wouldn't care. However, if you started selling diagnoses to other people based on their incompletely-understood genome, they might object.
posted by Existential Dread at 9:54 AM on March 13, 2011

Yeah! Let's crowdsource my diagnosis!!!
posted by Thorzdad at 9:55 AM on March 13, 2011 [1 favorite]

gerryblog: GINA does in fact apply to individual insurance policies. See page 13 of H.R. 493. I've found this post saying that GINA doesn't go far enough, but the argument there is that it only protects 'asymptomatic individuals'; the issue of 'symptomatic' individuals is another thing entirely.

In fact, by raising the spectre of adverse selection, GINA actually creates incentives to ban personal access to genetic data. If I lived in America, the first thing I would do if I discovered I was genetically predisposed to having a costly illness is buy an insurance policy that I was sure covered me for it. On the other hand, if I turned out to be unusually free of such predispositions, I'd go for a cheaper policy.

Fifteen years from now, maybe less, I can see full genome sequencing for a few dollars, routinely done for all children, with a thriving market in services that help you get the best policy for your profile. If that happens with your current health 'service', you'll all be paying a lot more for insurance whatever your genetic risk profile is. The only way to control costs, have free access to personal genetic data, and stop price discrimination against individuals based on their genetic profiles is to mandate that everyone pays for healthcare.
posted by topynate at 9:56 AM on March 13, 2011 [1 favorite]

While I think we should respect the decisions of particular people with the disease to end their lives, that doesn't mean it's the place of random passers-by to make blithe pronouncements on whether life is worth living for an entire group of people.

I think the problem everyone here has is the lack of respect shown toward the Huntington's carriers who might make a "bad" decision, where the "bad" is determined by some external authority who is not, y'know, afflicted with the disease in question themselves.

If I had the marker (and I probably don't, since my parents and grandparents all lived into their 70's) I would certainly consider killing myself at the first signs of overt manifestation. I would consider that a rational and constructive alternative to what most people regard as a pretty fucking horrible fate. The position of the AMA here is that I should not be told of this until some paternal authority figure has determined that I won't do anything so "rash." And for that, they can go fuck themselves.

The fact is, you probably will end up knowing more about your condition than your doctor, because you live with it 24/7 and don't have to deal with all his other patients with their different conditions. I am living proof that that is possible. Will some people take the same information and make bad decisions? Probably. But that is part of being human. To deny us the opportunity to even try is obscene.
posted by localroger at 10:01 AM on March 13, 2011 [6 favorites]

AskMe: Yeah! Let's crowdsource my diagnosis!!!
posted by hippybear at 10:09 AM on March 13, 2011 [1 favorite]

topynate, I think we might be talking at cross-purposes a bit. A genetic-nondiscrimination protection that ceases to protect you once you become symptomatic simply isn't sufficient. It's not much of a protection at all.

If I lived in America, the first thing I would do if I discovered I was genetically predisposed to having a costly illness is buy an insurance policy that I was sure covered me for it.

Generally speaking what you actually have to do in America is preemptively get the insurance BEFORE you get the test, especially if you're buying health insurance out of group or trying to life or disability/long-term-care insurance. Even then you have to be quite careful. But after the test is very commonly too late.
posted by gerryblog at 10:10 AM on March 13, 2011 [2 favorites]

I think the problem everyone here has is the lack of respect shown toward the Huntington's carriers who might make a "bad" decision, where the "bad" is determined by some external authority who is not, y'know, afflicted with the disease in question themselves.

I really strongly object to the idea that I have shown a "lack of respect" towards people who are gene-positive for HD or who are beginning to become symptomatic, if that was directed at me. My only point has been that genetic counseling and a clinical setting can help in processing genetic test results. The response you describe -- "killing myself at the first signs of overt manifestation" -- is a very common thought, but may have more to do with understandable fear or outdated memories of how the disease progresses than with rational consideration of the facts at hand and the possible futures that exist for current carriers.

It also cuts short any possibility of psychological acceptance. The longitudinal studies I've heard about actually show that stress and anxiety about HD goes down within one or two years after a test, whether the result is positive or negative.

I support the right to die and honestly think easy, affordable, legal suicide should be a human right. But nonetheless it's not a course of action to be taken rashly. Getting a gene test can be a very lonely thing even with medical support and friends/family by your side; doing it absolutely on your own, through the mail, may not be the best choice for most people -- even if one thinks they should be free to make that choice regardless. That's all I'm trying to say.
posted by gerryblog at 10:30 AM on March 13, 2011 [2 favorites]

gerryblog, that comment was directed more at the AMA than you; they very definitely and explicitly seem to be supporting a model of "we won't tell you what's wrong with you if we don't think you can handle it."

In the comment I quoted, you seemed to be aligning yourself with that view, even suggesting that comments here might not be appropriate reading material for any Huntington's sufferers who might wander into the thread. I didn't read any comment in this thread though as suggesting "you should kill yourself if you have Huntington's." What I read were consistently "you should be allowed to know you have Huntington's, even if you might react by killing yourself."
posted by localroger at 10:50 AM on March 13, 2011

This goes beyond disease to the question of .. do we own our own body, and if so, how much of our bodies do we own... and in my mind lines up directly with adoptee rights advocates who seek access to their own biological histories.
posted by zenwerewolf at 10:54 AM on March 13, 2011 [1 favorite]

zww, I would guess just from the State's zealous pursuit of the failed war on some substances you might put in your body, that the State's answer to the question of "do I own my own body?" would be a simple "No."
posted by localroger at 11:00 AM on March 13, 2011 [4 favorites]

localroger, that particular post you were quoting was actually from somebody else, though I did favorite it. The comment to which it was responding struck me as callous and a little cruel, though I don't think Netzapper intended it that way.

This thread was the only item in my "Huntington's disease" Google alert earlier today, so there may be more gene carriers and HD sufferers reading it than you might otherwise expect. As is probably already fairly obvious, my life has been touched by Huntington's ven if I am not a carrier. Of course everyone's experiences are different but my experiences strongly suggest the value of medical expertise with respect to coping with this particular disease.
posted by gerryblog at 11:02 AM on March 13, 2011

my life has been touched by Huntington's *even if I am not a carrier.

Should also have said "even though" instead of "even if." I'm not a carrier, but people I love are.
posted by gerryblog at 11:04 AM on March 13, 2011

I thought NetZapper's comment was pretty well taken; he's very clearly not inviting other people to off themselves, but rather asking why preventing someone who has what might be considered a damn good reason from making that decision is considered a priori to be a good thing. That might sound callous, but many questions do if they are faced with forthright honesty, and it's very definitely not cruel since he is clearly arguing for the dignity of being allowed to know your fate and make your own decision in the matter.

In fact, Huntington's is probably a very poor example of why the AMA might have a point, because it pretty much is an unambiguous one-gene-you're-hosed example of an easy diagnosis, just one with awful implications.
posted by localroger at 11:20 AM on March 13, 2011

speaking as someone who is currently working on a doctorate in human genetics, i can tell you (regretfully) that this debate is much ado about nothing. why? well the sad truth is that what we know about the genetic underpinnings of human diseases is shockingly and abysmally little. easily-identifiable, Mendelian diseases (like Huntington's or Tay-Sachs) are the exception rather than the rule, and the people who know risk for these diseases generally know who they are. on the other hand, the afflictions that are of the most public interest and relevance (obesity, heart disease, cancer, autism, Alzheimer's) are still mostly a genetic black box.

and now, as the capabilities of DNA sequencing technology to flood us with genetic information, we are far far out-pacing the capabilities of clinicians and geneticists to offer meaningful interpretations of what all that genetic sequence means. while our state of genetic knowledge will most assuredly improve, the technological and computational impediments at this point are myriad and will not resolve themselves quickly.

so, if anything, i support the AMA's position only on the grounds of consumer protection. at this point in time, companies that profit from offering genetic "knowledge" to the masses are offering little more than the 21st century equivalent of a snake oil panacea.
posted by DavidandConquer at 11:26 AM on March 13, 2011 [11 favorites]

DavidandConquer, that's a good point but I'd carry it further; as noted above you wouldn't expect a GP to be able to interpret a genomic summary, and I'd guess that as our knowledge increases neither will any human.

However, I would expect an expert system that was aware of all the discovered interrelationships would be able to home in on the trouble spots even if they involved complex interactions. Human doctors can be quite good at fixing known problems, but very poor at noticing the common thread linking a bunch of seemingly unrelated things, like my incipient diabetes. But a genome sequence is wonderfully concrete input for a computer, and computers aren't prone to forget something just because they don't see it very often.

Of course, I'd expect the AMA to howl for restricted access to such systems as soon as they exist, and I'd say "fuck you" to them for that, too.
posted by localroger at 12:13 PM on March 13, 2011 [1 favorite]

Localroger, that was my comment you were responding to. It didn't really have much to do with this discussion, about which I am entirely in agreement with what craichead said above.

I find that there is a tendency among supporters of things like euthanasia and the right to commit suicide (and I'm one) to take one idea -- that circumstances can justify a decision to end one's own life -- too far, to the point of seeming to think that people who find themselves in certain circumstances might as well go ahead and die since hey, that's what I would do and it would probably be for the best and at least I would never need anybody to change my diaper. I don't think it's anybody's place to evaluate someone else's situation like that, and certainly not with the kind of glibness with which people tend to do it. Yet it's the type of thing that gets tossed off all the time, as if it were somehow compassionate, instead of horribly thoughtless and potentially demoralising to people who still struggle to make it through while the only body they have is falling apart.

Allowing people to make a considered decision to die with dignity and without pain - that's compassion. But the appropriate response to the despair that strikes people who have received a terrible diagnosis, people who had had plans and dreams like anyone else, is comfort and support. It's not to write them off and go, oh well. Like gerryblog, I don't think Netzapper meant to be cruel, but he said "Why is it actually desirable to reduce the suicide rate amongst this population?" and I think that's a hell of a thing to say. Questioning the desirability of people not committing suicide because they are or will become ill and cease to "benefit" society is indeed callous, and it's not something we should ever be in the business of doing.
posted by two or three cars parked under the stars at 12:26 PM on March 13, 2011 [4 favorites]

"At the very least, consumers will waste money purchasing tests with little value."

I don't think this is something we need laws against.
posted by Mitheral at 12:34 PM on March 13, 2011

@localroger, i agree. in fact, we are already well-beyond the capabilities of the human mind to offer answers and CPU-intensive analyses are the only way to go these days. and as i pointed out, computational power is currently one of the limiting factors at this point in the game.

the other confounding factor (one that geneticists usually only talk quietly about) is the validity of the assumption that the key to all (or most) disease states lies within the DNA sequence itself. this may in fact be far from the truth, and there is convincing evidence that epigenetic factors "color" a lot of what we had heretofore described as "genetic". and while these epigenetic factors can be measured, they will escape all current efforts at large scale, DNA/genome sequencing.
posted by DavidandConquer at 12:35 PM on March 13, 2011 [1 favorite]

"At the very least, consumers will waste money purchasing tests with little value."

I don't think this is something we need laws against.

in general, i agree with the sentiment (philosophically).

but the line between being of "little value" and being negligently-misleading seems to me to be very grey here.

in this case, the room for misrepresentation and abuse seems to be on the side of whoever is offering the testing (especially if they are selling something else too, like a drug)
posted by DavidandConquer at 12:56 PM on March 13, 2011 [1 favorite]

Is the suicide rate for Huntington's controlled for getting a doctor to go over your information like this and for the time it took them to decide to take the emergency exit? I mean of all disorders one could off oneself over, this is almost a question of euthanasia rights more than people running off in a panic. It is a truly horrible destiny that has no cure and will kill you in an early, humiliating and terrifying fashion that the patients are intimately aware about. And if I knew I had it, I'd be seriously looking into Swiss and Danish vacations with a one way ticket, albeit not the moment I got my test results...

It's obviously going to be a problem if quacks are using genetics to cast you an inaccurate horoscope, but I imagine the solution to that is regulation, same as the people who currently make their living telling people they were an Egyptian princess in their past life and that the colour red will be unlucky to them (because the angel Raphael said so), while they are very compatible with this Gemini-amethyst they're dating.
posted by Phalene at 12:58 PM on March 13, 2011

Like gerryblog, I don't think Netzapper meant to be cruel, but he said "Why is it actually desirable to reduce the suicide rate amongst this population?" and I think that's a hell of a thing to say. Questioning the desirability of people not committing suicide because they are or will become ill and cease to "benefit" society is indeed callous, and it's not something we should ever be in the business of doing.

Please read the rest of what I wrote in the sentence you pulled. I didn't say that people were ceasing to benefit society when they got ill, I asked "How does it benefit the individual or society for them to suffer?"

Anyway, I recognize my view as fairly unpopular. But, I just frankly do not see suicide as the Great Evil that so many other people do. It is unfortunate that people feel they have no other way out. But we all have the right to cease existing, for whatever reason we personally deem necessary and sufficient. Even if that reason doesn't make sense to other people.
posted by Netzapper at 1:31 PM on March 13, 2011 [3 favorites]

I guess I'd rather see people educated rather than have knowledge (of themselves!) restricted.

That's great, but in practice it seems to lead to a bunch of people preferring to get their medical education from s meditroll legal firm a Playboy model and resurrecting near-extinct, fatal childhood diseases based on fraudulent science.
posted by rodgerd at 1:47 PM on March 13, 2011 [1 favorite]

Well, I'm pretty certain that I don't have Type II diabetes because my body does regulate my baseline glucose level pretty well, and it wouldn't be able to do that if I was insulin resistant; more likely my pancreas is failing to control the after-meal spike but is still OK for baseline. That means I probably have one of the variants of MODY, and those can only be positively identified by ... drumroll please ... genetic tests. So far I'm able to treat it myself whatever it is but I could see wanting the information one day, for example if a positive treatment is ever developed.

Now, my first symptom was a gradual uncontrollable weight gain of about 5 lb/year which started when I was 28. At 36, my second symptom appeared, a case of ED which came and went but mostly came if I stopped drinking. Yes, drinking helped. I thought this was weird enough to ask a doctor about. My GP referred me to a urologist, who listened closely and told me he thought I was lying. That was so traumatic that when Viagra became available a year or so later I never did bother to try it.

So I kept gaining weight and having trouble having sex and I got hemorrhoids and then gout and suddenly the trouble having sex wasn't such a big deal. Diet and exercise didn't seem to affect any of it (but then I didn't realize low carb might work, or how low carb I'd have to go). And then in late 2005 my mother was diagnosed with Type 2, I began to get suspicious, and on Jan 1 2006 I bought the glucose meter.

After I magically lost 40 lb in 4 months I told my parents what I'd done, and having been a scientist himself Dad started keeping a log of Mom's responses to food, and after a few weeks they took it to her doctor.

"Oh, you don't have to do that," he told her. "Just measure it in the morning."

Well, fortunately she didn't take that advice and after a couple of months they had to reduce her dose of the drug she'd been prescribed because she'd improved so much she was in danger of having a hypo.

Both of us have been prescribed steroid drugs which were clearly labeled as potentially intensifying diabetes by doctors who knew we were diabetic, which messed up our control. I now need a drug to keep my sugar levels down; Metformin didn't work, but about three glasses of wine a night plus the low-carb diet does the trick.

I've been told by at least two doctors to stop drinking because I am diabetic, and they have stared at me like the urologist did when I tell them drinking improves my blood sugar. But the meter doesn't lie, and if you look at the long scary list of alcohol's side effects that they like to scare you with you'll see "low blood sugar" as one of the symptoms; it's one reason hangovers feel the way they do.

I recently saw a NYT article written by a doctor (and, I'd bet, fact checked by another) that repeated this lie over and over, with the scare phrase "sugar, alcohol, and other cheap carbohydrates which raise your blood sugar."

Today, eleven years after I presented the first solid symptom to an actual doctor, I know why I feel better when I drink. I fixed that problem, but thanks to the guy who pulled my wisdom tooth I now have it again, but fortunately I don't have to take a more dangerous drug or insulin injections which might cause me to hypo. My Mom, thanks to her back doctor, not so fortunate.

I spent the first half of 2006 reading everything I could get my hands on about diabetes, which thanks to the internet is a lot. I know the doctor studied for ten years to get his license but how much of that ten years did he spend studying diabetes? Does he know the difference between T2 and MODY? How open is he to control through diet? Does he know that a lot of diabetics present with good fasting levels but spike after meals? Does he know you can self-medicate for diabetes with alcohol and not even know you're doing it?

I know all those things and I keep abreast of developments. I'd be very surprised if my doctor knew as much as I do about late onset diabetes today. I'd be even more surprised if he would support my decision to accept the side effects of alcohol for awhile rather than starting a treatment that could kill me in a few minutes if I get a dose wrong. I suspect my problem has something to do with seratonin signaling and I keep myself apprised of new seratonin pathway drugs, but most of them also have worse side effects than alcohol.

Not everyone would do what I did, but the ADA's position that "nobody would ever stick to a low-carb diet" is just bullshit. It's wonderfully motivational to see 250 on that meter after eating something you thought was safe. This is why I believe the restrictions that have been put between individuals and therapy are abhorrent and unhealthy as well as selfish on the part of the medical monopoly. It's a travesty that I am expected to get permission to try Metformin, a drug that is much safer than Tylenol. (Instead of trying to explain it to a doctor I just ordered it from New Zealand. And yes, I know about the one dangerous side effect; it's easily avoided if you know what the warning signs are. Unlike, say, Tylenol destroying your liver while you don't have a clue.)

Doctors are not gods, they are not perfect, and sometimes you really do know more than them. And if anybody ever tries to tell you otherwise, follow the money before believing them.
posted by localroger at 1:55 PM on March 13, 2011 [5 favorites]

For better or for worse, the days when medical experts could control all our knowledge of disease and treatment options are over. The internet has blown that up. Cat is out of the bag.

If the AMA or any other group wants to launch an educational scheme benefitting the population; say "look out for anyone who tells you that they can use your DNA to predict every disease you might get, and even cure it"--I'm all for it. Expose quackery, educate people. Treat them, in other words, with respect.

And as someone has brought up the vaccine scares, I'll say this again; part of the reason it blew up like it did is that many doctors did pull this we're-the-experts-now-shut-up bullshit, and it backfired. People wanted answers, they got the brushoff, and so some of them turned to quacks.

The answer is not "do the same shit again." The answer is, this time, meet people where they are, and also go after those who would exploit them with a vengeance.

It's not like it's that hard for doctors to get people to listen to them, overall. We love doctors. We have innumerable shows on TV devoted to Heroic Doctors. And when we're sick, we want to trust them, and usually do.

And of course, managing information and patient education would be 100x easier if we had national healthcare, electronic records, and no fear of losing care for preexisting conditions. Just sayin'.
posted by emjaybee at 2:04 PM on March 13, 2011 [3 favorites]

Seconding the low-carb diet for Type II. My partner (and I) have cut carbs sharply, and that coupled with an hour on the NordicTrak (yes, the old fashioned skiing sort) and he's only monitoring his sugar, not taking any maintenance meds at all anymore. It's really wonderful.

/derail
posted by hippybear at 2:07 PM on March 13, 2011

the whole Huntington's Disease-suicide sub-thread going on here actually illustrates the danger of giving people information that they may not necessarily be able to use to their advantage.

if you have the HD gene, that only says that you will develop the clinical symptoms at some point however, that diagnosis does not tell you when. people with the HD gene have lived into their 60's and 70's, HD-symptom free which is plenty of time to have a full and happy life. if suicide is the option you's choose, then why not just wait for the symptoms to appear before calling it a day (or a life)?

i'm truly all for individual freedoms and individual self-determination. and i'm pretty sure i would be opposed to any blanket mandate from the government that restricted wholesale, my access to ANY of my medical record. however, i also know from my time living on this planet that people are generally their own worst enemy and they are often poorly qualified when it comes to making wise decisions about their own welfare. and that last point is why we have friends, spouses and (hopefully) ethically-minded, medical professionals.
posted by DavidandConquer at 2:40 PM on March 13, 2011 [1 favorite]

Has anyone indicated here that their preferred option would be to immediately kill themselves if diagnosed as carrying the Huntington's gene?

Also, lots of people getting their genetic information aren't specifically interested in their risk profile; they're genealogists. The FDA restricts the freedom of companies to offer advice all the time, but these contemplated restrictions are on the ability to get hold of the raw uninterpreted data for any purpose, medical or not.
posted by topynate at 3:09 PM on March 13, 2011 [1 favorite]

enn: "The fact that right now I can get tested anonymously by people who are 100% certain not to share my genetic information with any insurance company, however, is extremely compelling"

That "fact" you're relying on seems tenuous to me. Given that the US is a merger-prone, personal data privacy-hostile environment where maturing biotech and tech companies often form interlocking keiretsu-like directorates, and that an *enormous* array of behind-the-scenes companies (such as, for example, McKesson) exist that specialise in tying longitudinal health data to real identities, I wouldn't be so confident of anyone's genetic data remaining "anonymous" once sampled.
posted by meehawl at 3:39 PM on March 13, 2011

localroger: "I also know that I'd have been very lucky to find a doctor who would have told me to do what I did. Most likely I wouldn't have been diagnosed at all, since fasting=110 is "not a problem right now, come back next year." Most doctors don't order a tolerance test because it's more expensive than a fasting level test. And very few suggest trying to control it by diet, since it's canon that nobody will stick to a diet like this anyway."

Your seem to be labouring under a misconception about the diagnosis of diabetes. An impaired fasting glucose is a "pre-diabetic" marker. It is not something any physician following current standards of care could afford to dismiss (especially anyone working in primary care). The ADA classifies a fasting glucose of between 100 and 126 as "Impaired Fasting Glucose". The ADA's own peer-reviewed journal repeatedly publishes papers such as this, which demonstrates that:

Overall, 8.1% of subjects whose initial abnormal fasting glucose was 100–109 mg/dl (added IFG subjects) and 24.3% of subjects whose initial abnormal fasting glucose was 110–125 mg/dl (original IFG subjects) developed diabetes (P < 0.0001). Added IFG subjects who progressed to diabetes did so within a mean of 41.4 months, a rate of 1.34% per year. Original IFG subjects converted at a rate of 5.56% per year after an average of 29.0 months.

Now, there are sensitivities and specificities to the IFG test that are a bit wide, and hence the oral glucose tolerance test was considered a more precise test for actual diagnosis. Recently, however, the HbA1C has been validated as a simpler, easier test for progression to a level of diabetes correlated with negative health outcomes. The OGTT was basically a big pain in the arse to administer. Why take so much time about diagnosing diabetes? And why, contrary to your assertion, will most docs follow the ADA recs and try lifestyle changes first? Because metformin, while a wonderfully effective and cheap drug, has certain risks.

localroger: "So fuck you, AMA. You can pry my knowledge of my own body out of my cold, dead hands. You failed to figure out what was wrong with me as I sickened for a decade."

I think your primary error may have been expecting the AMA to diagnose "pre-diabetes" and, if what you say is true, MODY - the various sub-types of which are quite subtle and exhibit variable penetrance and expressivity, and hence are difficult to differentiate from "standard" DM1 or DM2 in the absence of a thorough workup. You would have had better luck with an endocrinologist.

localroger: "However, I would expect an expert system that was aware of all the discovered interrelationships would be able to home in on the trouble spots even if they involved complex interactions. Human doctors can be quite good at fixing known problems, but very poor at noticing the common thread linking a bunch of seemingly unrelated things, like my incipient diabetes

One of the reasons for medical education being so damn long is precisely so that the learners are exposed to and forced to assimilate a very broad range of knowledge with the goal that diagnosis becomes a balancing act between accepting and rejecting conclusions based on noisy and often conflicting data of questionable provenance. There's also the whole balancing of risk of doing nothing versus the harm of doing something. Now, I've had some experience with making expert systems and I've also been through a medical education. Given my experience with the fragility of expert systems and output of medical diagnostic systems, I'd really prefer that someone with some ability to weed out the potentially dangerous zebras is validating that output. And diagnostic inferencing systems are not rare these days - you've been able to load them onto any decent smartphone for several years. They are good at spitting out long lists of potential diagnoses, sometimes with weightings attached, but relying on them for treatment in the absence of physician input is a recipe for iatrogenic harm and simple blind alleys.

Your faith in the depth, breadth and relative ranking of genetic discoveries, the ability and efficiency of commercial and non-profit researchers to encode them into heuristic systems in a timely and economic fashion, and the decisional omnipotence of AI systems is refreshing.

localroger: "But a genome sequence is wonderfully concrete input for a computer, and computers aren't prone to forget something just because they don't see it very often.

It's surely comforting that you believe that a DNA sequence in the absence of all the epigenetic and environmental factors is so deterministic, but it's a dangerous certitude not borne out by the last 20 years of research.
posted by meehawl at 4:39 PM on March 13, 2011 [2 favorites]

meehawl writes "I wouldn't be so confident of anyone's genetic data remaining 'anonymous' once sampled."

It would be pretty simple to set up a system that would be functionally anonymous. Allow for the test submission kits to be bought for cash (could even be distributed in pharmacies along side the aspirin and family planning products). Test kit includes url and randomized username plus place for the submitter to write in a password (maybe a fill in bubble sheet like lottery tickets). Results are downloadable via the URL and username/password combination. People who want insurance company privacy can download it from home. People who want privacy from even subpoenas will use a public terminal like the library or an internet cafe.
posted by Mitheral at 4:46 PM on March 13, 2011 [3 favorites]

The AMA has a valid point, but the approach is wrong and won't fly (though possibly correct in the current US medical system)

People shouldn't make uninformed decisions. People should have trustworthy, good medical advice available to them easily... and they should be able to get genetic testing done however they want.

People already make ill-informed medical decisions because of what they read on CNN or saw on TV, or read on the internet, both from the mainstream media and independent media. DNA testing is just one more thing to add to the pile of information available..... trying to restrict it is silly. Spend the money on educating people and reforming the medical system to make care and education more affordable...
posted by TravellingDen at 4:48 PM on March 13, 2011

It would be pretty simple to set up a system that would be functionally anonymous. Allow for the test submission kits to be bought for cash (could even be distributed in pharmacies along side the aspirin and family planning products). Test kit includes url and randomized username plus place for the submitter to write in a password (maybe a fill in bubble sheet like lottery tickets). Results are downloadable via the URL and username/password combination. People who want insurance company privacy can download it from home. People who want privacy from even subpoenas will use a public terminal like the library or an internet cafe.

implicit here is the same guiding principle behind a lot of the genetic-data collection done by hospitals--namely, that anonymization of genetic information is sufficient to guarantees protection of the individual from whom the sample was collected. while the guiding mission in all such sequence-collection endeavors is not malicious, the degree to which anyone's genetic code can be protected from prying eyes is necessarily shrouded by a false sense of security.

at the root of the problem is that you're trying to anonymize a code that is specifc to you. even if your whole DNA sequence in sitting in the most-anonymous data base conceivable, all i need to do to associate you with that anonymous sequence is a low quality tissue sample from you (for example saliva or a hair) and a computer. it only takes a few specific DNA "markers" from this sample to uniquely match you to your entire, anonymized genome.

and even though the state of our knowledge is so imperfect that we cannot guarantee that genotype "X" produced disease "Y", we geneticists can assign such a statistical association between X and Y and generate a probability. those kinds of probabilities are of little use to you or to clinicians, but they DO lend themselves nicely to incorporation into the actuary tables of health care companies.
posted by DavidandConquer at 5:14 PM on March 13, 2011 [1 favorite]

I'm a lot more concerned with rights regarding NOT having others know my genetic information

I apologize for the derail, but I'm having a hard time understanding this. I can already discern much of your genetic information just by looking at you. Should people not have the right to look at each other?

What you're suggesting is that the state limit my rights to information. And any time someone talks proudly about limiting rights, I don't care what their good intentions are, I get uneasy. Why are you so concerned about what I know and don't know? What right is it of yours to tell me what I can know? You can't bitch about genetic privacy when you leave a wake of DNA everywhere you go.
posted by Civil_Disobedient at 5:14 PM on March 13, 2011

meehawl: I'm aware that the diagnostic standards have been getting better. I presented around 1998 and figured it out in 2006. If it had taken until 2011 to figure it out, I'd be in a wheelchair.

There were multiple opportunities for someone to say "diabetes" to me between 1998 and 2006. Nobody did.

If all the expert system did was filter the common factors and spit out that word, I'd have been ahead of what the actual human doctors did for me and my mother.

I have hopes for expert systems because the humans have been so demonstrably full of fail. If the expert systems can't improve on that, then we are just totally fucked.

Oh, and I know about epigenetic modifiers. The three dexamethasone tabs I took before I figured out what they were doing to me are a perfect example. Again, the human medical establishment failed it big-time there. A computer might have tossed up a flag that asked do you really want to give this person a drug that might make his diabetes worse just so the tissues around his wisdom tooth won't swell up so much.
posted by localroger at 5:19 PM on March 13, 2011 [1 favorite]

I can already discern much of your genetic information just by looking at you.

um, no. no you cannot.
posted by DavidandConquer at 5:19 PM on March 13, 2011 [1 favorite]

Yeah, the amount of information you could get by examining someone's external characteristics seems really low compared to the amount of information in the genome. Say you could classify someone as one of a million different micro-ethnic groups – that's still only 20 bits of data. Then height might add a few more bits, presence or absence of certain genetically determined features a few more, but you're unlikely to get to 100 bits of data. Compare that to the amount of information you need to specify what makes an individual's genome unique: 4 megabytes, or 24 megabits.
posted by topynate at 6:11 PM on March 13, 2011

Er, 32 megabits.
posted by topynate at 6:15 PM on March 13, 2011

the amount of information you could get by examining someone's external characteristics

Uh huh. And what of the actual DNA you freely discard every day? Or do you and DavidandConquer live in plastic bubbles?
posted by Civil_Disobedient at 7:55 PM on March 13, 2011

You did say 'just by looking'. Looking at someone, or even doing anthropometrics on them, is very different to having their genome. I'm pretty sure I didn't speak to how easy it is to get someone's genetic information surreptitiously, nor to how harmful it might be to have that information leak.
posted by topynate at 8:35 PM on March 13, 2011 [1 favorite]

The fact that right now I can get tested anonymously by people who are 100% certain not to share my genetic information with any insurance company, however, is extremely compelling.

GINA has its limits and there are no guarantees about protecting anonymity. The venture capitalists who currently underwrite personal genomic sequencing efforts may soon want to monetize customers to a new set of exponentially wealthier customers: insurance companies and pharmaceutical companies. Your privacy is not sacrosanct under the current legal framework.
posted by Blazecock Pileon at 3:27 AM on March 14, 2011

GINA-protection correction: I emailed the professor whose article I linked to above, and he's confirmed gerryblog's interpretation: that in most states individual insurance policies allow providers to drop you if you develop symptoms predicted by a genetic test. He goes on to say that the 2010 reform law will end this this practice by 2014, "assuming it is not repealed before then."
posted by topynate at 7:40 AM on March 14, 2011

Someone untrained for medical diagnosis should not be giving medical diagnosis.

I think this is the crux of it here. If I were to try and analyse a stranger's genome sequencing results, it would be considered gross negligence. Why would we allow for the same negligence for our own medical care? For every localroger out there who successfully diagnoses themselves with a disorder, there are people dosing themselves on homoeopathic remedies, using faith healing, trying quack medicines - things that patently don't work and or that are harmful.

Raw data is useless. We're a self selecting group here on Metafilter; a group of generally smart, well read people. We have good literacy as a whole, we can research things competently. The odds of us being here if were aren't are slim.

There are a lot of folk out there who have a poor understanding of science, of how their bodies work and how poorly understood genetics really is. I mean, I occasionally come across women who don't realise there is an end to their vaginal canals. People who really don't know, for one reason or another, how their bodies work. Throwing confusing information at them is negligent at best and dangerous at worse. If you do not have the capability to wade through that information, you're going to drown in it.
posted by Jilder at 7:41 AM on March 14, 2011 [1 favorite]

Why would we allow for the same negligence for our own medical care? For every localroger out there who successfully diagnoses themselves with a disorder, there are people dosing themselves on homoeopathic remedies, using faith healing, trying quack medicines - things that patently don't work and or that are harmful.

Um, and not letting people get their 23andme will stop them? Believe me, they'll find something else. I just met someone this weekend who prescribes questionable herbs and bogus "cleanses" based on the colors and patterns in your eye, some bullshit called iridology.

Anyone have any evidence that genetic information would actually led to more of this stupid behavior? I mean we have drug store shelves filled with medicine that can maim and kill people who use it wrong...and they do.
posted by melissam at 9:57 AM on March 14, 2011

And part of the quackery actually comes from MDs themselves (or DOs) I'm sad to say. One example is a patient my doctor friend had who had gotten "allergy testing" from Enterolab from a DO that told her she was pretty much allergic to every food under the sun. As a result, she became quite malnourished from her pathetically restricted diet. I don't know if the DO couldn't read stats or was an actual quack. I took the really difficult stats class for math majors and later took biostats with med students because it was required for my grad program. The ignorance was astounding and the biostat class basically taught them nothing but how to input data. It's no surprise they wouldn't realize that such allergy tests are bogus.
posted by melissam at 10:01 AM on March 14, 2011 [1 favorite]

Raw data is useless. We're a self selecting group here on Metafilter; a group of generally smart, well read people. We have good literacy as a whole, we can research things competently. The odds of us being here if were aren't are slim.

There are a lot of folk out there who have a poor understanding of science, of how their bodies work and how poorly understood genetics really is. I mean, I occasionally come across women who don't realise there is an end to their vaginal canals. People who really don't know, for one reason or another, how their bodies work. Throwing confusing information at them is negligent at best and dangerous at worse. If you do not have the capability to wade through that information, you're going to drown in it.

Well, I guess I should be flattered "here on Metafiliter" to be one of the elite allowed to have an opinion about my own medical care?

Lack of education is a problem, yes. So educate your patients. Or demand better health education for them. Type up a flyer in simple language and hand it out. If they're drowning in information, throw them a fucking life preserver, instead of damming up the information behind a wall and then doling out bits and pieces as you deem fit on a pay-per-visit basis.

Because your patients need a teacher, not a Keeper of the Sacred Knowledge.
posted by emjaybee at 2:31 PM on March 14, 2011