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Last chance: let the FDA know why you want direct access to your own genome

123 pointsby dwwoelfelabout 14 years ago

15 comments

ShabbyDooabout 14 years ago
This is what I submitted to the FDA:<p>----<p>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.<p>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.<p>----<p>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.<p>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.<p>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.).<p>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?<p>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.<p>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.<p>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.
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pratabout 14 years ago
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.<p>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 &#60;-&#62; 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.<p>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)<p>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.
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carbocationabout 14 years ago
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.<p>Should private companies be allowed to sell you medical interpretations about said genome <i>ad lib</i>? I think that this is where the case for regulation shines.
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mbreeseabout 14 years ago
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.<p>What if a company errantly told you that you had the mutation that causes Huntington's? That would cause severe emotional distress.<p>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.<p>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.
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Nate75Sandersabout 14 years ago
The context here is completely medical, it seems, but there are other issues as well:<p>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).<p>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.
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gourneauabout 14 years ago
Whoa, thanks for sharing. Below is my rhetoric<p>--<p>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.<p>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.<p>Science has to be open, to attempt to cage it could have repercussions so devastating that they are now hard to imagine.<p>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.<p>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.<p>Don't cage our DNA, don't bury our chances to for a brighter future.
amalconabout 14 years ago
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.<p>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.<p>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.
pratabout 14 years ago
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"<p><a href="http://www.nature.com/nature/journal/v461/n7265/full/461724a.html" rel="nofollow">http://www.nature.com/nature/journal/v461/n7265/full/461724a...</a>
siganakisabout 14 years ago
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.<p>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.<p>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:<p>"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<p>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.<p>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.
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killerswanabout 14 years ago
My submission:<p>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.<p>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!<p>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.<p>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.<p>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!
ShabbyDooabout 14 years ago
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:<p><a href="http://en.wikipedia.org/wiki/Selective_immunoglobulin_A_deficiency" rel="nofollow">http://en.wikipedia.org/wiki/Selective_immunoglobulin_A_defi...</a><p>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.).
zmmmmmabout 14 years ago
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.<p>I sincerely hope that the FDA doesn't cut this potential future off at its roots.
geuisabout 14 years ago
This was my comment.<p>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.<p>There is fundamentally no more personal or basic information about a human being than the very structure of their fabric.<p>If I choose to hire a company or specialist to sequence my DNA, that information belongs to me, because it <i>is</i> me. There is no distinction between the combination of genes that makes a man and the man himself.<p>Keep these facts in mind, because they effect all of us, including those of you who may read this.
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nazgulnarsilabout 14 years ago
the AMA and FDA fucking kill people. never forget that.
pratabout 14 years ago
By the way, it helps to atleast read what scientists found out about these reports before we build the whole discussion just on ideology <a href="http://www.gao.gov/products/GAO-10-847T" rel="nofollow">http://www.gao.gov/products/GAO-10-847T</a>
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