Should you be able to have access to your genome? Emphatically yes. If you can pay a company the cost to sequence it for you, you should be able to get your hands on the 3.2 billion basepair sequence of your genome in As, Cs, Ts, and Gs.
Should private companies be allowed to sell you medical interpretations about said genome ad lib? I think that this is where the case for regulation shines.
If they were just sequencing your genome, that wouldn't be a problem, but they are giving you medical advice, they are telling you about diseases that you might get (without solid scientific basis) and they are or might direct you towards one drug vs. another depending on which pharma company they collaborate with
That's not a problem. There's already a gatekeeper for drugs. You can't get a prescription without an MD signing off on it. If the MD is doing his job, there's no reason for an additional obstacle.
I'm disentangling these two issues intentionally. While the companies that have been offering paid genotyping services to the public have also been making, e.g., risk prediction from this data, it doesn't have to be this way.
I'm suggesting where I think the regulatory hurdle should be placed.
My lab is a human cardiovascular genetics lab, so I'm familiar with these issues and I am also concerned. I read that report when it came out and was not in the least bit surprised.
I stand by my suggestion to disentangle concerns with giving someone their sequence (no concern--it's THEIR sequence!) from the concerns about companies offering quasi-medical services based on that sequence. The latter issue is perhaps analogous to practicing medicine without a license, although that is admittedly a bit of an overstatement since they're generally making predictions, not diagnoses. At any rate, the companies' behaviors are concerning.
With no disrespect intended to the doctors and researchers who comprise the medical field, I find it interesting that those closest to the field show the most concern over interpretation of sequencing results. As an educated medical layperson, I still believe that companies like 23andMe should be able to offer statistical interpretation of sequencing data. At the most, I could accept a required disclaimer, but it is a statistical fact that certain studies have associated certain SNPs with certain conditions, and I should have as much of a right to know those facts as I do to read the raw sequence of my DNA.
> With no disrespect intended to the doctors and researchers who comprise the medical field, I find it interesting that those closest to the field show the most concern over interpretation of sequencing results.
That's not disrespectful at all. In fact, it's to be expected that those who are closest to a technique are the most familiar with its pitfalls.
> it is a statistical fact that certain studies have associated certain SNPs with certain conditions
Sort of, but that's not as relevant as you seem to think. The SNP reported in each study is not generally presumed to be the causal SNP; it's just tagging the causal SNP. For any particular person, it is possible that recombination occurred between the tagged and causal SNPs, interrupting the haplotype.
Even if we assume that sort of thing doesn't happen (which, most of the time, it won't), we're still talking about odds ratios of at most (for lipids) 1.3. That type of minimal increase in risk extremely difficult to convey. In fact, in medical practice, it often wouldn't even be worth reporting (depending on, e.g., background prevalence of disease).
So really, I think that issues are more complex and subtle than one might gather from reading your post. Should you have the right to get your genome sequence? Yes. Should you have the right to read the published literature? Yes. Does a company have the right to interpret that literature as a quasi-medical service? Again, this is the place where regulation makes sense.
If you want to shut down shady websites in China selling Lance Armstrong branded DNA tests, be my guest.
But what does that have to do with the regulations being proposed, namely requiring a doctor's permission/interpretation to get DNA tests from reputable sites like 23&Me?
1. But interpretation grades smoothly from "google this text string" to "evaluate a complicated formula published last week". For many variants, seq + google = interpretation.
2. The FDA is a LOT dumber and slower than you might think. Very few graduates of George Church and David Reich are going into the federal bureaucracy rather than starting companies or becoming profs.
If you have ever worked with them, the FDA is the TSA, third tier guys who do "safety theater". They assuredly do not keep you safe. They keep their budgets and jobs safe. Their general orientation is "restrict everything so we can't be blamed for anything, and then cry that we're underfunded when we've bitten off more than we can chew".
This is a much longer story but if you have an open mind on the topic start by googling "Jeffrey Shuren FDA" or the lawsuit between the FDA and the FTCLDF. Or just talk to some friends at biotechs. Most people won't talk on the record for fear of FDA retaliation, just like everyone goes along with the idiocy for the 10 mins the TSA has power over you. It's not worth losing your company/flight over a stupid rule that a bureaucrat is mindlessly enforcing.
These are my first impressions on reading this and parts of other linked articles in it. My opinions are fallible and often change over time.
First, being in the field and a part of the teams that first published the general human genome and the individual human genome, I know that our current knowledgebase of genomic variant <-> disease correlation is not very vast. We don't even know how much more or less important are the particular type of variants "SNPs" that personal genomics companies mostly mine, in comparison with other types (Insertion/deletions , structural variations, copy number).
At more serious genomics research institutes, we are still trying to figure out the genetic pathways that might be affected by this mutation or that - far from actually predicting their effects on actual physical condition. So does that mean personal genomic companies are far ahead of institutes in their research? I am not so sure.
Second, I think we need regulation here for the same reasons that we need net neutrality. I wouldn't be surprised if with time, the reports start advising you on which of the alternative drugs would be most beneficial for your genotype and disease. I would still be okay with it if companies like 23andme published their research or atleast cited publications - but I am not sure they believe in public access when it comes to their findings. (I can be wrong on that - so correct me if you know better)
Finally, I actually like the prospect of public driven science in addition to just organization/scientist driven, as that is likely to fund some actual science in addtion to pseudo science. So one solution I can think of is for FDA to approve a most trusted mutation screen for all these personal genomic companies to abide by. Let them focus on their core competency which is sequencing and customer interface and not research, If however they come across findings that might be beneficial, let them publish it in a peer-reviewed journal and apply to FDA to add it to the universal mutation screen.
You have no business telling other people what information they can or cannot acquire, and by what means they do so. Even if you're right, you still have no business dictating to others what they can and cannot do, simply because you consider yourself to be more learned and qualified to make a diagnosis.
I went to the doctor. I needed to have specific tests done, because my ethnicity is prone to very specific genetic defects in children. My wife and I needed to know if we had the appropriate markers and if precautions should be taken. I was quoted $3000 per person. That would be $6000 for myself and my wife.
23andme does those same tests and more, for $100 each. On top of that, our doctor is willing to use their results and add it to our medical records.
Again, who declared you or anyone, fit to determine which information I'm privy to and how I go about retrieving it?
> you still have no business dictating to others what they can and cannot do, simply because you consider yourself to be more learned and qualified to make a diagnosis.
You cannot lie to the consumer about your product.
Who lied? 23andme is a social network with a twist. They are not pretending to be your doctor. In fact, they make you read various disclosures that reinforce that self-obvious fact.
I was responding specifically to the claim that "you still have no business dictating to others what they can and cannot do." As far as 23andme is concerned, if they are not making any medical claims then they should have nothing to worry about. The linked to article linked to another article that said as much.
This is EXACTLY my point. Your arrogance in assuming that I don't know that and then as a consequence, crowning yourself qualified to make that decision for me. That is unbelievably fucked up.
Neither you nor the FDA have the MORAL right to make that decision for me. Maybe my wife and I can't afford 6K? Maybe our insurance doesn't cover it?
You have no idea how informed I am. You have no idea what my financial situation is. You have no right to make those sorts of decisions for me.
The FDA should stick to its mandate. It's the Food and Drug Administration, not the Anything-Remotely-Medical Administration. My genome is MY genome. Nobody has a right to it but me. NOBODY can tell me when or how I can access it.
I don't know your circumstances, and you don't know mine either. I am sorry that you have to deal with this though...
I'm not saying that you don't have the right to know what your genome is. I'm saying that you have the right to get accurate information about what it means...
My apologies, mbreese, but I actually must go through your comment line by line. You seem like a good guy, but you are way off base about a lot of the facts here.
Your quote from the doctor was for an FDA regulated
diagnostic test, with a known error rate.
FDA validated diagnostics generally have much, much smaller sample sizes than 23andMe. For example, this FDA approved diagnostic only has a few hundred samples tested:
23andMe has done tens of thousands, on much more highly varied populations (including many South and East Asians in addition to Caucasians). Their confidence intervals are just much tighter.
The 23and me test is not a diagnostic and doesn't have a
known error rate for such purposes.
No. The error rate of iSelect custom assays is well known and can also be empirically estimated from the above data.
I know affymetrix (their vendor) has been working in
getting things approved for diagnostic uses, but I don
think that snp chip has been approved yet.
Affy's genotyping platform was approved many years ago. 23andMe does not use Affy, but rather Illumina.
So, even if you were cleared for the genetic condition by
23andme, could you trust the results to make a clinical
judgement? So far the FDA says no. And if I remember
correctly, I'm pretty sure 23andme would agree.
Several different issues are being confused here:
* whether the test is "diagnostic grade"
* whether 23andMe says the test should be used for medicine
* whether the FDA will permit 23andMe to sell the test at all
* whether all applications of genetics are medical
* whether there is even any point in distinguishing between medical and nonmedical interpretation when "interpretation" often just means "Googling the variant" or "looking up the Pubmed papers"
These techniques work for research because you always run
replicates, so any random error is taken care of.
The raw base accuracy of these platforms is not really at issue. The primary source of error is not genotype assessment, but the genotype/phenotype maps derived by researchers in the literature.
You can easily tell whether someone has an A/A at a position. You cannot easily tell whether that "A/A" means that they will come down with a complex condition like diabetes.
The key question is whether you believe 23andMe should be free to report what was openly published in Pubmed about that "A/A" variant's effect, or whether they need a $50 million government license to do this.
The CFTR test you mentioned is a PCR test, the Illumina arrays are hybridization, correct?. If so, the two tests are not directly comparable in terms of error rates.
I know that hybridization assays have good error rates, but that errors in calls do happen. Any time you test that many SNPs, errors happen. Do you also get the confidence measures for each call? But, I agree, this isn't really the issue.
As I said below, I'm not trying to say that 23andMe shouldn't exist. I actually like them very much, and think that they've done a great job at getting the general public to understand how genetic variation affects your chances of developing a complex disease. I also think that they have an amazing data set that they can use to mine more genotype/phenotype interactions. I think that 23andMe are one of the good guys in this.
But I do think that there needs to be a line between performing genotyping and giving out medical advice. I don't know where that line needs to be drawn.
For example, the 'A/A' variant you used may be reported to be involved in diabetes in one paper, and then later explicitly found to not be involved in another. So, what do you tell the person who has the variant? What about after the second paper is published?
Here's another example: a single deletion in CFTR (well, triad causing the loss of a phenylalanine) is responsible for 70-80% of cystic fibrosis cases. The remaining 20-30% are caused by hundreds of other variants. What if someone was concerned about being a carrier, and used one of the personal genetics services to find out. What if they had one of the rare variants and it wasn't on the array? They should have a medical professional help them interpret their results in order to make sure that they know the limitations of that testing.
Final case: Let's say someone submits their DNA for genotyping and are told that they have the Huntington's variation. It would be grossly negligent to tell someone this without some degree of medical/genetic counseling follow-up.
With all due respect you don't seem to know much about this space. The vast majority of laboratory developed tests (including millions upon millions of blood and urine tests done every year by LabCorp and Quest) are not cleared by the FDA. They are regulated by CLIA, like 23andMe is.
So we are not debating "zero" vs "some" regulation. This is a turf war between two agencies in HHS: FDA vs. CMS. It has nothing to do with safety and everything to do with jurisdiction and funding dollars. FDA is also going after other "sister" agencies within HHS, like Blumenthal's ONC, to take over regulation of EMR and get the bling.
If Shuren can get both LDTs and EMRs classified as "medical devices", he will at a stroke have increased CDRH's ambit from just "medical devices" to all laboratory tests and all medical records in the US. It will no longer be a distant third in funding to CDER and CBER, the drugs and biologics/vaccines groups in the FDA. And budgets will be increased to match.
What we are debating is whether 23andMe should face $50 million of regulatory costs (to get a 510k through the FDA) vs. $5 million of regulatory costs (the ballpark amount to get a CLIA lab running).
"The cost of clearing a device through the existing 510(k) program may range from less than $1 million to as much as $50 million, compared with $50 million to $150 million under a more- stringent FDA program for higher-risk devices such as heart pacemakers"
I deleted the parent because I mistakenly thought they were using Affy SNP chips. I don't remember why I thought that, but you're correct in that they are using Illumina SNP arrays. This doesn't explicitly change what I was trying to say, but I hit the delete link a bit hastily.
My understanding is that the labs that run the tests are under CLIA, but diagnostic tests themselves are under FDA.
I think you are misunderstanding my point... my point is that there should be a big distinction between having access to your genomic data and having someone tell you what it means. Illumina's disclaimer is very clear (http://www.everygenome.com/about_us/our_lab.ilmn): They do not give you a diagnosis, medical advice, or a treatment recommendation. They give you a genome that you can take to your doctor and then discuss the results. In general, genotype data isn't something that you can easily interpret on your own (with few exceptions), and that interaction should be regulated.
So I assume you are also against FDA regulation to force pharma companies to list adverse reactions alongside there drug commercials? If you are, then the discussion is mute, if you aren't then your point is.
So does that mean personal genomic companies are far ahead of institutes in their research?
Does it matter? Maybe they will contribute something useful, maybe they won't.
If we shut them down now, they definitely won't.
Second, I think we need regulation here for the same reasons that we need net neutrality.
To prevent service providers with a government granted monopoly from extorting payments from the rest of the economy?
Is this a serious danger in the personal genomics market? I was under the impression that the FDA wanted to prevent consumers from purchasing genetic tests without receiving permission from another government granted monopoly (doctors).
Does it matter? Maybe they will contribute something useful, maybe they won't.
If we shut them down now, they definitely won't.
Exactly - that's why I say don't shut them down, regulate them.
To prevent service providers with a government granted monopoly from extorting payments from the rest of the economy?
Is this a serious danger in the personal genomics market? I was under the impression that the FDA wanted to prevent consumers from purchasing genetic tests without receiving permission from another government granted monopoly (doctors).
There is no govt.granted monopoly here. All they want is to be sure that a medical advice is givem by 1) qualifieed entity 2) if 1) is not possible then atleast based on research done by a qualified entity (i.e. published results)
Regardless, could you further explain your analogy to net neutrality? I can't even imagine what combination of misconceptions about net neutrality and personal genomics led you to make such a comparison.
All they want is to be sure that a medical advice...
Personal genomics companies do not give out medical advice. They give out genetic information.
The proposed regulations would require you to get the permission of a doctor (or other clinician) before you can have your DNA sequenced, and the data would be available only through the doctor.
I can't even imagine what combination of misconceptions about net neutrality and personal genomics led you to make such a comparison.
Strong words - try just asking and I'll answer :). Here is where the comparison comes from.. The same way that net neutrality aims to prevent carriers from promoting one hosts content over another, this decision aims to potentially prevent advising on drug response from one pharma company vs. another. Not that this is already happening, but policies should be as forward looking as possible.
The proposed regulations would require you to get the permission of a doctor (or other clinician) before you can have your DNA sequenced, and the data would be available only through the doctor.
Did you read my original parent post ? if not read it now - the last paragraph. I am not in favor of the govt having a doctor grant permission, but for FDA to make a universally trusted mutation screen through which all DTC companies operate. FDA makes not money, no monopoly and DTC companies have a way to get new findings added to the mutation screen through proper channels (published papers)
The problem isn't in giving people access to their genetic code, it's in the interpretation. If you don't do this right, then you can cause severe distress to someone.
What if a company errantly told you that you had the mutation that causes Huntington's? That would cause severe emotional distress.
What if they told you that you had a lower than average risk for heart disease? Then based on that information, you eat lots of fatty foods for years, relying on your genetics to save you and you end up having a heart attack because of it.
I know this isn't popular, but at this point, there just isn't a good way to offer these services without the input from a medical professional/genetic counselor. People need to have access to their own data/test results, but the delivery of the results and interpretations definitely needs to be regulated. I don't think that regulation would be the death of the personal genomics industry - it would just mean some new rules to play by.
Let's say you check your blood pressure at a machine available in a grocery store. Should the store be held responsible based on your interpretation of the results? Or if you use a blood glucose test? Or a thermometer? Or any other device used for home medical treatment?
These companies aren't dispensing medical advice. They are simply providing a service that decodes your personal genetic sequence and allows you access to that information. Why should I need to jump through hoops to have access to the ONE thing in the world that is provably and irrevocably mine?
Also, no matter how hard you try, you can't regulate intelligence. In 1000 years, stupid people will still be doing stupid shit.
Can you tell me which is the mutation for huntingon's? If not, someone is going to have to tell you where it is and what the 'bad' genotype is. That interaction should be regulated.
I'm all for people having access to their data, but blood pressure is an easy concept for people to get their heads around. Interpreting it isn't hard. And we've been using it clinically for close to 100 years. Genotypes are different. You don't ask people to read and ECG. Sure, you can see it, and you can have a doctor explain to you what it means. That doesn't mean you should be able to go to a drug store, hook yourself up to electrodes, and decide that you don't have an arrhythmia.
Mutations and known sequences are factual, unchanging pieces of knowledge that I could research and check against my own sequence information if I had the time and desire. So, why not allow me to pay someone else to do it automatically. There is no medical interpretation being made. Matching sequences is a completely objective process.
If I want a medical professional's interpretation of the results, I can go see my doctor with my sequencing.
Dispensing medical advice without a license is already a heavily policed offense. We don't need more redundant laws on the books.
The link that the article pointed to as a good summery: http://www.genomicslawreport.com/index.php/2011/03/11/the-fd...
states that he doesn't think that any regulations will be implemented that prevent consumers from getting their raw genetic information. That it is primarily about dispensing medical advice, the protection of information, etc.
The context here is completely medical, it seems, but there are other issues as well:
Imagine an database where you could voluntarily, anonymously upload your genome to find relatives, lost parent-child connections, etc. I think this is also grounds for allowing people to have control of their genome and it doesn't require medical knowledge -- just a 3rd party company who can use a well-known algorithm (I'm assuming there is one) to say how closely you match someone else and what this likely means (same lineage, sibling, parent, etc).
Related to this, I really wonder what life is going to be like in this new world we're heading into where there is going to a large increase in the number of children and parents who find out that the children aren't the offspring of their live-in father. There are a lot of social implications of this.
I really wonder what life is going to be like in this new world we're heading into where there is going to a large increase in the number of children and parents who find out that the children aren't the offspring of their live-in father.
Related to this, see Robin Hanson's call for mandatory paternity testing.
I am angry that the FDA is considering limiting access to my own DNA. How is this within the scope of the FDA's authority? What is next? Will I be prevented from purchasing a glucose meter because I can not be trusted to know my own glucose levels? Maybe the FDA should outlaw the sale of blood pressure monitoring devices. After all, I might mis-interpret my own readings.
Here's what I suspect is really going on: The FDA is being pressured by the insurance industry to restrict consumers' access to their own DNA because of the information asymmetry between the government's preclusion of insurers ability to consider genetic data when determining eligibility and consumers' recently available ability to cheaply know if they have a predisposition for a variety of potentially expensive or life-limiting illnesses. That the FDA is likely pandering to this industry under the dishonest guise of consumer health protection makes me more distrustful of it as an independent entity.
----
If my suspicions are right, this is a perfect example of how regulation begets regulation. The insurance industry is right to be scared of this government-mandated information asymmetry and the potentially horrific impact it might have on profitability. Imagine that everyone who new he had a high propensity for a degenerative disease made a very rational choice to buy nursing home insurance. The insurance companies would have little alternative but to price their products based on the the probability that those who are genetically predisposed to such illnesses would comprise the risk pool. This would likely price out a huge portion of the US population and effectively shut down the entire product category.
If we allow the insurance industry to do its own genetic testing, we will effectively take away the ability for a huge swath of the population to purchase life, nursing home, or health insurance. The effect would be that the US government would be the de facto insurer through Medicaid and other wealth transfer programs. And, because those who would find themselves un-insurable would not be contributing any of their own money toward their likely future care needs, the insurable population would indirectly pick up the slack through increased taxation or more government borrowing.
So, what can be done? Before we had our children, I imagined purchasing meta-insurance -- insurance that my children would be insurable. I wanted to buy this insurance BEFORE conception. My rate would be a function of my wife and mine's DNA testing, her health status, and her adherence to pregnancy best practices (don't get drunk, etc.). If we were quoted a high rate because our future children were deemed high risk, we would have to consider the moral issues of knowingly producing a child which could have a life of suffering (adopt instead, use a sperm/egg donor, etc.).
What would this insurance cover? I haven't thought through the mechanics, but I would like for such a product to allow the purchase of various health-related insurance products at rates not dependent on my children's genetic make-up or current physical condition. I would also like a nursing home-esque provision which would pay out if my children ended-up having expensive needs. [My otherwise healthy five year-old Aspie costs us thousands a year in non-covered services (social skills group, etc.). I can't imagine having a kid with CP. etc.] Imagine having a kid with Downs' Syndrome. How much money would you need so that your lifestyle would be the same as if your kid was born healthy?
The insurance would be sold as follows: Upon receiving a price quote, I would obligate myself to purchase the insurance if we conceived a child which was born alive and lived for more than N months. The obligation aspect of the product is designed to prevent an obviously nasty selection bias effect.
So, why is this insurance not available? Current government regulations coupled with social welfare programs take away the incentives. Let's presume that, if the US because a libertarian-esque country that the majority of children born would not be insured in this way -- after all, we have lots of evidence that many parents can't even provide immediately necessary things for their children. [Note that I consider myself a weak libertarian.] And, let's presume that letting children suffer is politically unacceptable. What if the government effectively privatized a huge swath of its social welfare programs by offering this insurance for free -- genetic testing be damned. The effective future payment stream would not be much different than it is today because the government pays for poor sick people anyway. We could rid ourselves of many layers of regulation and allow the free market to do what it does best.
I am strangely hopeful that the availability of direct-to-consumer genetic data will necessitate such a change in the ways US citizens have to mitigate health-related risks. Unless we peel back the layers of regulation already in place and offer market-centric replacements for their intent, we will see more and more inefficient layers added over time.
Before we had our children, I imagined purchasing meta-insurance -- insurance that my children would be insurable.
I've thought that should exist as well. It's similar to the concept of "health status insurance": http://www.cato.org/pub_display.php?pub_id=9986. Both ideas are fundamentally about restoring the actual meaning of the word "insurance", to provide protection against expensive and unlikely outcomes, not to cover minor and foreseeable expenses.
Thanks for the link. I had never actually read about this and did not know that the term "health status insurance" had been coined. It is depressing that so many regard US healthcare as a market failure when the reality is that regulation has done so much to hurt people.
>It is depressing that so many regard US healthcare as a market failure when the reality is that regulation has done so much to hurt people.
unfortunately there is not enough regulation of the real kind - the insurance companies have been exempted from anti-trust law. Thus, because of missing regulation, there is no free competitive market of insurance in the US and thus it isn't a market failure.
Is it really fair that a child's access to health insurance for the rest of its life depends on decisions parents made?
What your thought experiment really shows is that market based health insurance is hard to justify ethically, and that at least some level of health care should be paid for on a more equitable basis (such as through a public health system).
In addition, issues like information asymmetry mean that there is no happy medium between unregulated health insurance and a full public health system.
"Is it really fair that a child's access to health insurance for the rest of its life depends on decisions parents made?"
Probably not. This is why I suggested that it might be valid for the government to provide this meta-insurance to all children born. Your other statements are simply opinions without the associated effort of argumentation.
I find your point about the information asymmetry between insurance companies and consumers extremely insightful. Here is another possible consequence.
Insurers might choose to protect themselves from this asymmetry by only offering very general medical insurance. Rather than insurance for specific conditions, such as cancer or nursing homes or anything that one might find out that one had a predisposition for, they would only offer insurance for "lack of health", or some similarly-broad language.
If they did that, lots of people would buy that insurance, because everyone has a legitimate risk of being unhealthy at some time, so you wouldn't get the situation where people with a genetic predisposition for a disease made up a disproportionate number of the people buying insurance for that disease.
That would also have great effects on the availability of good health insurance, because then insurers would have an incentive to cover a large number of conditions. (I know that this would probably not give large number of people good insurance. The insurance industry just sucks.)
The problem I see is that, because such a low percentage of Americans purchase health-related insurance policies, even relatively small increases in propensity of those with diseases like Huntington's to buy-in would have huge impacts on the expected cost of an insurance company's policyholder pool.
According to this article, an individual can know with near certainty that he will become symptomatic with Huntington's disease in the future if certain genetic markers are present:
This is exactly a situation where the FDA should step in. The FDA should make sure that people can trust what they are buying (when it pertains to health), not make sure that people don't have the choice in the first place.
That article doesn't even come close to saying that glucose meters are a hoax. It says that they're poorly regulated and fail far too often, which is much different from saying the principles they're based on are fraudulent, as is the case with the IED "detectors".
Glucose meters may be off by 20%, but you're still better off having one than not.
"He probably doesn't know too much about glucose meters, because he's not diabetic."
Seeing as glucose meters are basically only used by diabetics, your assumption that most diabetics would know that glucose meters are fraudulent seems empirically false.
Virtually all diabetics use glucose meters, despite the fact that they are basically the Iraqi IED detectors of medical hardware.
Virtually all studies (and there have been many) have shown that people with diabetes who use glucose meters regularly are at markedly reduced risk of complications than those who do not.
WRT the OP, unless you are advocating that the FDA should allow home genetics testing provided it is held to high standards, your analogy does not hold. As stated, it seems that you are implying that people would be better off without home glucose meters. a proposition that is demonstrably false.
> Seeing as glucose meters are basically only used by diabetics, your assumption that most diabetics would know that glucose meters are fraudulent seems empirically false.
I did not want to imply that assumption. I want to say that non-diabetics don't care about glucose meters enough, and he probably only brought it up for the sake of rhetorics.
The article that is linked to (http://www.genomicslawreport.com/index.php/2011/03/11/the-fd...) says that "Again, despite suggestions from many panelists that a clinician should be involved in the ordering and interpretation of the vast majority of genetic tests, there was no formal or binding recommendation to that effect from the MCGP. Nor will one be forthcoming. There is also no good reason to suspect that genetic tests which are currently available DTC without clinician involvement, some of which have remained available for nearly a year since the FDA first publicly announced its intention to regulate these tests as medical devices, are going to be yanked from the market by the FDA tomorrow." None of this is about limiting access to your own DNA.
^ Watch that video. You don't even need to postulate insurance as the hidden hand behind this. In the span of four short minutes, FDA head honcho Jeffrey Shuren manages to commit perjury before Congress while explaining that "traditional manufacturers" will be helped by the new regulations. Who woulda thunk?
Truly blood boiling clip. The entire genomics blogosphere exploded over this guy back in March. No one has any idea why he's still employed.
We came up with the same metaphor. My post started with the glucose meter as well, and pointed out that misinterpreting blood glucose was more likely to have immediate and dire consequences.
I am very excited about the transformation DNA sequencing technology is going to unleash. So much so, that I quit a job at NASA to be at a company pushing forward the DNA frontier.
I am deeply concerned that a measure such as this one will stagnate this burgeoning field. To prohibit the access of this DNA information, and restrict the interpretation to a few is criminal. This information is our birthright.
Science has to be open, to attempt to cage it could have repercussions so devastating that they are now hard to imagine.
The internet is a fantastic analogy. The internet succeeded because it was open, it flourishes now because the openness allowed others to build on it, and that openness has infected every part of our society for the better. Almost 18 years ago to the day CERN gave the web to the world. I ask you to consider the changes that emerged from that pivotal event.
What a treasure the world would be missing if the net had been restricted to the Physicist using it tucked away deep underground in particle accelerators.
Don't cage our DNA, don't bury our chances to for a brighter future.
Lots of style; not a lot of substance. The sublink describing the congressional hearing did not indicate that there was an actual proposal to restrict "direct access to your own genome". The regulation seems aimed at medical interpretations of such. Access to an interpretation is "indirect access" in any sensible interpretation.
Now, I'm of mixed opinions about what should be done in that regard. It would depend on just what sort of regulation. It only makes sense that (for example) HIPAA be enforced on these guys if it's not already. It probably makes sense to require that they have at least a few licensed M.D.'s on staff.
It could make sense to require that the results be available in a standard form, in case the consumer wishes to consult a doctor about them. It might make sense to require explanations and citations of primary sources in that standard form. It probably does not make sense to require that a doctor personally deliver said results, but I'm not 100% sold even there.
Here is a nature paper (for those who can access) discussing the state of Direct-to-Consumer companies in personal genomics
"An agenda for personalized medicine"
Given that our genetic code, in DNA, is in every cell of our bodies and is spread all over everywhere we go and everything we touch, it is nearly public information.
Any attempt to limit my own access to my own code, or to prevent me performing an independent analysis of my own code (the recipe of me!) should be carefully considered. This DNA info will completely revolutionize medicine. You must protect the future: make it easy for a person to access their own DNA!
I understand that there may be fears that malicious or erroneous analyses will be performed by quacks and snake-oil-salesmen, and that individual people will be better served by accurate information.
The software industry, however, has demonstrated repeatedly that the most qualified and competent work is often done by those without a multi-billion-dollar empire. The startup, like Microsoft, Apple, or Google each was once, should NOT be too restrained. And the academic or hobby project, like Linux, should not be prohibited: such "amateurs" have shown repeatedly that they can collaboratively deliver superb quality.
Accurate information about our DNA will be important enough that the public WILL educate itself. We should encourage competition amongst those who want to build the future! Do not limit access to DNA!
The scans that that companies like 23andme complete are for common SNPs (single nucleotide polymorphisms), not full DNA sequencing, which is much cheaper but provides only a sample of your genotype.
Research scientists use the same technology to conduct GWA studies (Genome Wide Association), which seek to determine if these SNP's are associated with a disease phenotype across a population. These studies typically find one or two SNP's that are associated with a disease (e.g. Breast Cancer, Diabetes, Macular degeneration, etc), but with extremely small odds ratios. These studies help narrow down possible genetic areas of interest for other researchers.
As they are population based studies, they are of no use clinically at all. As one of the first people to document the GWA study methodology put it:
"Patients inquiring about genomewide association testing should be advised that at present the results of such testing have no value in predicting risk and are not clinically directive." ~ Teri A. Manolio. Genomewide association studies and assessment of the risk of disease. The New England Journal of Medicine, 363(2):166–176, July 2010
The trouble is that companies like 23andme tell their clients that because they have a particular SNP, they are likely to get a disease which is extremely disingenuous. They do this by reporting the odds ratio found by a GWA study as their personal odds ratio of getting a disease. The research they use to make their findings is not applicable to single cases yet they claim it is. This leads to stress in clients and then ties up medical resources better spent chasing actual disease, rather than phantoms.
I'm all for open access to genetic data, but the current crop of consumer genetic companies are pedalling fear rather than open information, and probably deserve to be regulated.
I am a 23AndMe customer and got an update notice of new findings a few months back. One genetic marker indicated that I might be 10x more likely than average to have Selective IgA Deficiency:
Since college, I have had several serious infections which, when considered individually, are within the realm of random possibility. Pneumonia as a college freshman, an infection post wisdom teeth removal at age 23, several root canals, etc. However, when considered as a group, the existence of some underlying issue seems likely. My primary care physician ordered a screening test. Unfortunately, it came back negative. I was disappointed because, with such an explanation, I would have a greater understanding of how to take precautions in the future (proactive antibiotics before dental work, etc.).
I believe that in the future we will learn an order of magnitude more from "crowd sourced" medical information than we do from controlled studies. Ultimately it's not about medicine or even science at all - it's about the fact that individuals are by far the most motivated, interested and observant managers of their own health and once empowered with data and tools amazing and unexpected discoveries will happen. However none of this works if the source genetic information isn't available.
I sincerely hope that the FDA doesn't cut this potential future off at its roots.
I am a 31 year old American citizen. As a free man of able body and sound mind, it is not the place nor the responsibility for any other person to restrict my access to the knowledge of my own genetics.
There is fundamentally no more personal or basic information about a human being than the very structure of their fabric.
If I choose to hire a company or specialist to sequence my DNA, that information belongs to me, because it is me. There is no distinction between the combination of genes that makes a man and the man himself.
Keep these facts in mind, because they effect all of us, including those of you who may read this.
So there's no distinction between identical twins?
Genes provide a recipe to create a human, but that interpretation is heavily dependent upon environment (both initial biological as well as how that "man" grew up). So, there definitely is a distinction.
Just watch your rhetoric as it could cause people to throw out your entire argument.
Excuse me? What rhetoric? And exactly how do you throw out what is not an argument, but a statement of fact.
I own the stuff I am made of, because I own myself as a person. The stuff I am made of is an informational pattern bound up in matter. What I own, and what I am, is that pattern. And while matter is organized by that pattern (i.e. after I eat something) I own that matter, too. Before that matter becomes a part of my being, it can be part of someone or something else's form.
If I had an identical twin, then he would own the informational pattern that shapes him. What does it matter if his pattern and my pattern are identical? Haven't you ever owned a CD or a game that someone else also owned a copy of?
This is not some philosophical debate. Its not a debate at all. Its the simple, basic, utter truth of how life bio-mechanically exists on Earth.
>I own the stuff I am made of, because I own myself as a person.
buyers of CD/DVD/iPhones/etc... also thought they "owned". At least they had some idea about their fair use rights. That ideas were severely adjusted by the army of lawyers and DMCA.
Wait a bit and the new "genetic DMCA" will make it clear that you get a "limited use license" for your genetic material and the biomass you're composed of. Any circumvention or modifications will be prohibited, until they licensed from the genetic iTunes or from whatever will take its place. It is really hilarious to imagine your screams about fair rights use for your body and genetic info :)
That's actually a very interesting and scary point. What we have to do now, and is the original point of the article, is to make sure that no one is able to say that we somehow don't have the rights to our own genetic material.
>no one is able to say that we somehow don't have the rights to our own genetic material.
the genetic code is a code executed on biocomputer. You mother and father created the code by merging copies of their own codes (and the IVF clinic may have done some bug fixing). Did the mother and father have the rights to do so, ie. to copy and modify? For example, it is frequent case in the dog breeding that you can have this nice puppy, yet you wouldn't have the rights to breed him, i.e you get a
"license to use" and not a license to produce modified copies. It is easy to see that the same logic easily applies to humans as well. Lets say some designer produced a very popular eye color DNA alteration. You bought it for your future child. Would it come with perpetual license, ie. right to pass it to your grandkids or not? (or, God forbid, your child when grown let his/her friends to copy the code for their children :) The answer by Monsanto is clear and is completely in line with legal copyright framework.
You said there's no distinction between the genes and the man. I'm just saying that's incorrect, otherwise there'd be no distinction between identical twins. Their recipe is the same, but the outcome is difference. Hence, there IS a distinction between the man, and the combination of genes that the man has.
I don't disagree that obviously you should have access to all your DNA information, (I doubt anyone on HN disagrees). But it's an argument you're making to the FDA (that you should be allowed unfettered access), because they're considering otherwise.
DNA is not you. There are many more factors that make up you than just DNA. DNA is how to make you.
It is the place of the government to make sure that we are not lied to.
By the way, it helps to atleast read what scientists found out about these reports before we build the whole discussion just on ideology
http://www.gao.gov/products/GAO-10-847T
I'm not sure that it does if the argument is ideological in nature. I'll give an example:
I believe hate speech and racist propaganda are examples of free speech protected by the Constitution in the US. I believe that it is wrong for governments to violate this right even if they don't enumerate it in the core of their system of laws. A sociological study showing clear and convincing evidence that hate speech and racist propaganda have bad results won't change my opinion that they're free speech that no government has a right to prevent.
I believe that no government has a right to prevent people from having medical tests done on themselves. The scope of any regulation must be limited to ensuring that labs collect specimens safely, conduct tests accurately and refrain from making false claims about the services they offer. If they are making false claims about what the test results mean, then existing consumer protection laws already apply.
Didn't read the whole paper, but the summary is idiotic.
GAO made undercover calls to the companies seeking health advice. ... GAO made undercover contact ... and asked about supplement sales ...
So it's not that the companies are pushing such things, it's that GAO prodded it out of them.
one donor who had a pacemaker implanted 13 years ago to treat an irregular heartbeat was told that he was at decreased risk for developing such a condition.
It's almost as if the person who wrote this doesn't understand that statistical likelihoods are not the same as ironclad facts. The above anecdote, seemingly included to shock us, seems like a perfectly reasonable outcome to me. There are plenty of people who aren't at risk genetically, who still end up with problems.
One donor was told that he was at below-average, average, and above-average risk for prostate cancer and hypertension.
Again, perfectly reasonable. It would seem that each company is testing for different SNPs. A given person's DNA can certainly read different ways when we're not reading the entire genotype, but just a limited (and potentially differing) set of sequences from within it. (However, I would hope that each of these tests included a description of which SNP are tested for, so that it's at least possible to interpret properly with research)
Also, none of the companies could provide GAO's fictitious African American and Asian donors with complete test results, but did not explicitly disclose this limitation prior to purchase.
I've only ever looked at 23andMe, but they certainly disclose this [1]. AFAIK, 23andMe is the best known of such companies (indeed, the only one I can name), and it has this disclosure. I think that, again, they're sensationalizing.
At this point I got disgusted and stopped reading.
ADDED as a follow-up to my comment about misunderstanding statistics. The proposal would have the consumer hearing this information through a filter of their MD. How many MDs really understand physics? How many of them are going to be able to explain the Bayes concepts behind "if your father and your uncle both have prostate cancer, then it doesn't double your risk...". Is making the MD the gatekeeper to this actually going to help?
Should private companies be allowed to sell you medical interpretations about said genome ad lib? I think that this is where the case for regulation shines.