FDA

Of Course People Should Have Access to Their Genetic Data!

I don't want to have a "conversation" with regulators; I want them to get the hell out of the way

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GeneticTestingAgawa288Dreamstime
Agawa288/Dreamstime

The idiots, ah regulators, over at the Food and Drug Administration bascially shut down the consumer genetics company 23andMe (and its competitors) back in 2013 based on entirely specious worries that consumers would be confused by the genotype screening test results the company offered in its Personal Genome Service. In one scenario the FDA idiots, ah regulators, suggested that women who received results suggesting that they carried genetic variant of BRCA cancer propensity genes would panic and take butcher knives to their breasts. All right I exaggerate just a bit, but what the agency did write was:

For instance, if the BRCA-related risk assessment for breast or ovarian cancer reports a false positive, it could lead a patient to undergo prophylactic surgery, chemoprevention, intensive screening, or other morbidity-inducing actions, while a false negative could result in a failure to recognize an actual risk that may exist.

What sort of supposedly misleading information did 23andMe actually give its customers about BRCA mutations:

Understanding Your Results

This report covers three of the most common mutations that cause HBOC syndrome – 185delAG, 5382insC, and 6174delT. These mutations are most common in people with Ashkenazi Jewish ancestry. Keep in mind that having one of these mutations does not necessarily mean you will develop cancer. Similarly, you can still develop cancers associated with HBOC syndrome even if you don't have these mutations. Many other rare mutations in the BRCA1 and BRCA2 genes are associated with HBOC syndrome, but are not reported here. …

This is not a diagnostic test. If your results show that you have a mutation, consult with a healthcare provider about confirming the result. Genetic conditions run in families so consider also sharing your results with family members.

If you don't have any of the mutations but you think you may still be at risk for HBOC syndrome due to family or personal history of cancer, you should also consult with a healthcare provider.

The actual reports to which customers like me had access were quite extensive and linked to all of the studies upon which 23andMe researchers based their interpretations.

Lots of bioethicists are still telling researchers to withhold genetic information from their patients and subjects. I am happy to report that human genetics researcher Sarah Nelson has a terrific article in Nature arguing that "geneticists should offer data to participants." About damned time! When she was asked to join a whole genome sequencing project she was told that she would not be given access to her results. This is crazy. Ignorance is not bliss for everybody. Among her salient points are:

As awareness and usefulness of this information increases, I fear that potential volunteers who are refused access to their genetic data will become less willing to donate them to science. The genetics-research community must therefore update its stance on returning personal data. …

…beyond the lab, more people now want and expect access to all kinds of personal data, a trend that shows no signs of slowing. Health data are no exception, as evidenced by the flood of wellness and 'mobile health' apps that are now coming to market. Future generations will take for granted that our personal computing devices are vehicles for almost unlimited 'quantified self' and self-tracking activities.

Several online platforms exist to help people to explore their genetic data, developed by for-profit companies, academic groups or by self-taught citizen scientists. Since launching in 2011, the site openSNP has drawn more than 4,000 users, half of whom have uploaded genetic data. The DNA.LAND platform has attracted more than 32,000 contributors since its release last October. Launched in 2008, and therefore one of the earliest third-party interpretation tools, Promethease reports performing hundreds of analyses daily. Other tools, such as GEDMatch and Genome Mate Pro, attract thousands of users who are eager to incorporate genetic analyses into their genealogical research.

Many scientists are suspicious and occasionally derisive of consumer or 'recreational' genomics. Although these products have their flaws, they underscore what citizens can and want to do with their genetic data. For the genetics-research community to maintain its good relationship with volunteers, it must take these activities more seriously….

…as researchers, don't we have an obligation to respect the individual autonomy of participants seeking their raw data? Asking for access is not the same as asking for ownership or control, just for a reasonable reciprocity. Let's have the conversation.

I don't want to have a "conversation" with regulators and bioethicists; more and more people like me just want them to get the hell out of the way.

Speaking of Promethease, click on over to see what it says about my many genetic flaws.

NEXT: Imprisoned on Drug Charges, Michigan Man Claims He Was Forced Into Sex by Prison Counselor Who Wanted to Get Pregnant

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  1. Is 23andMe still the best source for raw genetic data? I looked into this a while ago, and it seemed like they provided more raw data than any of the similarly priced services.

    (As I understand it, they’re all “who’s related to you/what ethnicity are you” services, but they also give you the raw data, which you can then analyze yourself.)

    1. Now the FDA and whatever other regulatory offices, I can’t even keep track of them anyone, let alone the zounds of new regulations that come out every freaking day.. Anyway, they’re shutting down or trying to shut down all the companies that are trying to make the star trek like tri-corder devices that you can use to monitor all your own vitals and various blood tests at home. I know that cronyism is not at play there, but it… shit, I can’t lie, it’s just cronyism all the way down.

      1. Pay to play.

        These companys obviously aren’t greasing the right hands.

    2. As I understand it, they’re all “who’s related to you/what ethnicity are you” services

      Not exactly. They’ll report on 41 possible carrier traits, like Tay-Sachs or Sickle Cell and 7 wellness traits, like if you’ll be more likely to weigh more on a diet high in saturated fats.

      But yes, you can take the raw data and get more from Promethease.

    3. A stranger on reddit said that Ancestry.com has one that is better now. Not saying that they are right, but it might be one to look into as an alternative to 23andme.

  2. “For instance, if the BRCA-related risk assessment for breast or ovarian cancer reports a false positive, it could lead a patient to undergo prophylactic surgery, chemoprevention, intensive screening, or other morbidity-inducing actions, while a false negative could result in a failure to recognize an actual risk that may exist.”

    Ron, how are we supposed to effectively ration our healthcare so that everyone can get a little of it, if you have a bunch of crazies demanding stuff our betters think we might not need. If everyone will just pay their premiums and take an aspirin instead of jamming up the healthcare system by actually using it, we can’t have a working healthcare system like every other civilized country in the world.

    You can’t just let people think for themselves. It takes TOP.MEN.

    Also, rules and regulations, because.

    1. Have you considered moving to Canada? Our health care systems need more clear-headed, rational individuals such as you.

      1. I don’t have to, Canada is coming to us.

        1. My thoughts and prayers are with you.

    2. I think the question is more along the lines of:

      How can we maintain our authority when all these peons get the info themselves?

      It’s basically the medieval Catholic Church and the Vulgate all over again.

      1. Well, we don’t own our own bodies anyway, we can be jailed and tortured or even killed for trying to decide on our own what we can put into our own bodies. So what gives us the right to analyze our own DNA? We don’t own ourselves, the government owns us.

        1. Tony agrees.

    3. “because”, duh-doy, why didn’t I think of that. This is why I’m not TOP.MEN.

    4. So, this risk assessment has pretty exactly the same risks for false positives and negatives as every single other diagnostic procedure in existence.

      Call me unconvinced that having the same risks as everything else means it should have any special restrictions or regulations.

      Been meaning to thank you, Ron, for turning me on to Caol Ila. I finally got a bottle of the 12 year, and it is good stuff. Got that Islay flavor, but its a little more restrained than some of its brethren from the island. As the Scots say, muy bien.

      1. Are we making an alcohol sub thread? If so, has anyone tried the 1998 don perignon P2?

          1. I just figured “Don Perignon” would be the sort of mason-jarred spirit Florida Man would sell at the roadside.

            Side effects may include gator bites, flakka addiction, and mouse ears.

            1. Don? Yeah I know him. Good guy, bad booze, but it’ll getcha drunk. You’ll be fuckin’ fat bitches in no time.

        1. No, but I have tried this. It’s kind of sparkly.

            1. 2015 is quite excellent. Make sure it’s still got the seal on it though. Otherwise, the alcohol flashes off.

              1. *scribbles notes in tasting diary*

  3. OT: An excellent diagnosis of what ails this former Constitutional Republic:

    But today’s bipartisan ruling class, including the Atlantic, treats ordinary Americans’ religiosity as a problem, and calls all who do not share its worldview racist, sexist, homophobic, any affected by whatever psychosocial disease the class happens to invents. How are citizens to react to being deemed irredeemable themselves, their opinions and interests unworthy of equal consideration with those of “protected classes,” their citizenship illegitimate, except by withdrawing legitimacy from their rulers?

    The rulers’ absence of commitment to the rule of law negates the obligation of the ruled to obey.

    Etc. Read, as they say, the whole thing.

    http://www.claremont.org/crb/b…..atlantici/

    1. I called attention to the fact that out of more than 20 presidential candidates this year only one, Ted Cruz, has constitutional restraint in his bones

      I’m going to take exception to that statement.

  4. There’s a mistaken notion that we’re all entitled to receive free health care so that we can live forever and ever and ever. News flash: You are going to die. Stop expecting every last dollar of someone else’s money to be spent to extend that clock and to correct every flaw given to you at birth.

    1. What does this have to do with being allowed to know that you have a high risk of getting breast cancer?

      1. Shut up and die already. The state demands it!

      2. Nothing, and it also has nothing to do with human longevity. Also reeks of ludditism.

        1. A bunch of hypochondriacs rushing to doctor after doctor looking for a cure for something they have no symptoms of having other than a genetics test that says they ‘might’ be at risk. That’s all fine and dandy, until you expect everyone else to pick up the tab for it.

          1. I agree.

            Get rid of Medicare/Medicaid.

    2. Although it is not fixable, that is where our biggest problem to affordable health care lies. Everyone wants to live forever. Everyone wants everyone they love to live forever. We have made great strides in prolonging life expectancy. Once, I may have died of a heart attack at 50, but now we have medicines that prevent that, so I live more years, acquire more medical problems that require more expensive procedures, etc, etc.

      My father was a type-1 diabetic. Although I loved him dearly, he did not take care of himself as a diabetic should have. He drank, smoked, ate sugary foods. His medical provider was Kaiser-Permenente, an HMO. Despite his not taking care of himself, they spent well over $1M trying to prolong his life. He had numerous surgeries to replace arteries to his legs, then one amputation after another. Finally, his gastric system failed and they asked if we would like to pull the plug. None of us hesitated. But it was over $1M they spent that could have helped someone who truly deserved it, not someone that work at making himself better. I am happy they gave me a few more years with my father, even as difficult as they were, but it was a huge waste of money.

      1. Although it is not fixable, that is where our biggest problem to affordable health care lies. Everyone wants to live forever. Everyone wants everyone they love to live forever. We have made great strides in prolonging life expectancy. Once, I may have died of a heart attack at 50, but now we have medicines that prevent that, so I live more years, acquire more medical problems that require more expensive procedures, etc, etc.

        It’s worse than this. We want the medical establishment to either make us invincible or assume any/all risk, no matter how miniscule, much like we expect the auto industry to do. I’ve begun to see/conceive of the recalls and the growth of sales in emerging markets as akin to the ACA/Medicare/Medicaid pyramid scheme (except not imposed top-down). At some point, everybody will have cars, there won’t really be any emerging markets and massive spurious recalls will bankrupt car companies. The analogous situation has been true in healthcare for at least a couple decades.

      2. This is the reason behind some of these ethics & rationing concerns. Nobody will stop at just spending their own $ for the increasingly expensive diminishing returns, they’ll also spend everyone else’s. Nobody has convincing justif’n for keeping anything when someone else’s health could benefit by it a little. Ultimately everyone must sacrifice a lot for everyone else’s health, & the only controls on such sacrifices will be collective, because taxation & other redistribution methods are unlimited.

        Therefore, gotta ration expensive diagnostic devices like imaging machines rather than letting any facility buy it. Similarly, can’t let people get their own dx info or submit to tests on demand. Better they not know the percentages they can improve their health by, because the effort to do so will come out of the pot.

  5. Tuskeegee.
    There’s another great historical example about people withholding relevant information about patients health from the patients.

    I think bioethicists should really consider the ethical implications of withholding or denying people access to information about their own bodies. How many people will “misuse” this information (to get themselves healthcare) vs. how many of the will use it to make valuable health care choices? Do you really want to be implicated in the future as someone who advocated withholding relevant information from people because you thought they were too stupid to use it properly?

    1. Those were black people: National Tragedy.

      If we block everyone from seeing their health data, it’s like a bread line: proof that society is more equitable.

      1. We don’t need 23 brands of health data providers.

        1. You’re not very far from reality.

      2. Unless we can involve identity categories or Team Red’s foreign policy, government cannot err except by not doing enough.

    2. The job of an ethicist is to come up with rationalizations for things normal human beings find morally repulsive.

    3. It’s not that they’re too stupid, it’s just that it threatens to bypass the gatekeepers, & the gatekeepers are the only ones w a chance to prevent health care from consuming all the world’s productive output of everything.

  6. as researchers, don’t we have an obligation to respect the individual autonomy of participants seeking their raw data?

    Yes, and that could have been the entirety of her argument.

  7. a false positive, it could lead a patient to undergo prophylactic surgery, chemoprevention, intensive screening, or other morbidity-inducing actions, while a false negative could result in a failure to recognize an actual risk that may exist.

    I’m sure having less information will lead the patient to a much more informed decision on a course of action. Just do what your doctor tells you, when he tells you to do it, but definitely do not trust him to be like “Uh, No.” when you come in asking him to prophylactically cut your tits off.

    1. I wonder how many people will die of breast cancer that might have been alerted to their risk had they been allowed to use consumer genetic testing.

      1. Here is a pink ribbon, try not to think about it.

      2. Hazel, you don’t understand. If you allow people to gauge their own risk, home-based mastectomies will soar!

        1. Well, sure. I already bought a couple gallons of lidocaine and a specially-equipped chainsaw.

          1. Ima run you outta business. I rigged an electrocautery machine out of a deep cycle marine battery.

            1. Dude, I got you beat.

              I’m going to use rubber bands.

              1. Son of bitch!
                *slaps forehead*

    2. A coworker of mine had her breasts and uterus prophylactically removed. But then she had some serious scientific chops. Enough that she could have schooled any M.D. that tried to tell her “Uh, No.” Literally, and well enough that said M.D. ought to be awarded “continuing education” credits from the experience.

      But since she wasn’t a medical doctor, the policy pushed by the regulators and bioethicists here would be to deny her her test result information.

  8. a false positive, it could lead a patient to undergo prophylactic surgery, chemoprevention, intensive screening

    Oh fucking no. Follow-up tests? Perish the thought.

    1. Look, LG, we have limited resources and you can’t be hogging them all up yourself, you greedy capitalist. We’re all in this together, we only have so many MRI machines. Stop being selfish, take an aspirin!

    2. I know my Doc greets me with, “So what are we cutting off today?”, with no further questions.

    3. Almost as bad as asking for a second opinion. You should see the looks I get from most Canadian doctors when I request such a thing! They’re practically scandalized.

      1. How could you? You brute!

        1. It’s true, I’m an insensitive prick. It is known.

      2. The ACA seems to have turned every single doctor in the USA into either a meek nervous wreck who is afraid to even attempt to treat you with anything besides tylenol, or a pompous government toady who can’t even believe that you dare to question their authoritah on the subject. I pretty much despise them. Replace them all with AI and get the government completely the fuck out of healthcare.

    4. Oh fucking no. Follow-up tests? Perish the thought.

      The funny part is what Ron presents this is just the tip of the derp-berg.

      So, in 1999, the FDA levied a $100M, 12 yr. consent decree on Abbott Laboratories as part of a civil action against it’s HCG assay. The assay is used to measure gonadotropin (HCG) and confirm pregnancy as HCG only occurs in women during pregnancy or as the result of a cancerous lesion. Abbott found a cheaper source for the antibodies used in the assay but there was something like a 1 in 1000 cross-reactivity human serum. Abbott changed the recommendation on the tests use, with FDA approval, to confirm the test with an independent follow up analysis. The test was being used to screen for pregnancy so it’s no big deal. False positives went up but no adverse reactions were noted until a doctor confirmed the Abbott Test with the Abbott test, and went on an invasive cancer hunt in a woman known not to be pregnant. Rounds of chemo were performed and various lady parts were removed only to discover that she cross-reacted directly and the doctor knowingly and repeatedly used a pregnancy test known for cross-reactivity as a cancer diagnostic and repeatedly confirmed the test with itself against the recommendation.

      The FDA has been risk averse to this scenario ever since, but the BRCA statement might as well mention the woman by name. Bureacracy, credentialism, and TOP MEN for the mutherfucking win.

  9. The real issue here is that the people who have developed the expensive FDA-approved genetic testing, the kind you have to go to a doctor to get, don’t want competition from upstart outsiders. They greased the right palms and these guys didn’t, so now they are entitled to their profits.

    It has nothing to do with stopping people from going to the doctor. Quite the opposite. They want people to go through the official medical channels so that everyone from the doctor to the test provider can get their cut. If you let everyone get 23AndMe testing, the vast majority will find out that they don’t have the risk factor, and hence will *not* get the expensive AMA-approved test. Why spend $1000 a pop on piecemeal tests for individual genes, when you can get the entire panel for $500 ?

    1. Hospital revenue will collapse if there’s too much healthcare.

      1. Not to worry. We’re busy buying up the rest of the healthcare system anyway.

    2. It’s the same exact thing with lab testing. The tech is almost there, but the FDA are out to shut down any company who comes up with an affordable home testing unit.

      1. I’m not surprised. Remember that there is a revolving door between big medical companies and the FDA. I’m sure they rationalize it to death – people are too stupid to give themselves piss tests at home – but they are basically just protecting the interests of political insiders who have the money and connection to get their shit through the FDA approval process, which is basically run as a government approved cartel on their behalf.

  10. In one scenario the FDA idiots, ah regulators, suggested that women who received results suggesting that they carried genetic variant of BRCA cancer propensity genes would panic and take butcher knives to their breasts.

    This administration just wants to protect women, the way it protects blacks and other minorities who don’t have the capacity make individualized judgments about their own lives.

  11. If we give people access to their genetic data, they’ll be cloning themselves left and right!!

    1. So block federal employees from using it, problem solved.

      1. Imagine a cadre of Hillary clones, each spaced 4 years apart.

        1. *looks back last 16 years*

          Kay…

          1. No! Don’t look! TURN AWAY!

    2. God forbid they ever get hold of CRISPR!

  12. BTW, I’m beginning to get the current generation’s skepticism over capitalism.

    Look what happens every time someone starts an innovative business.

    1. They just need to learn the difference between markets and cronyism. But there is this concerted effort going on to make sure they don’t. I really wish more millenials would come here who are curious about libertarian ideals, but I’m sure if they do, their derpbook friends will down vote them and nothing is worse than that, nothing!

      1. Markets are evil. They allow people to do things they don’t like. This includes the free marketplace of ideas.

  13. worries that consumers would be confused by the genotype screening test results the company offered

    “These statements have not been evaluated by the Food and Drug Administration.” So, no problem.

  14. Watch out, Bailey’s getting scrappy.

    1. I like it. He’s almost one of us now.

      1. How long ’till he uses the word “woodchipper”?

  15. So how, again, does this relate to “a woman’s right to choose”??!!
    Or is that right only in play if someone dies?

  16. Might you have misinterpreted what “conversation” was contemplated in the quote? I don’t think that meant a convers’n between customers & regulators or ethicists. I think it meant a convers’n between customers & researchers. Isn’t that the convers’n you wanted?

  17. You can’t handle the truth! Your benevolent government knows you’re too stupid to understand all those big words and contradictions in your genetic report and will just go off half-cocked and do something dumb if they let you have any information.

    It’s just like campaign finance reform: you’re too dumb to sort through the claims of contradictory ads from organizations that aren’t the government approved MSM. I mean, come on, if they allow you to see an anti-Hillary documentary within 60 days of an election, you might not vote for her, and we can’t have that at all.

    Freedom of information is what those nasty Russan hackers do, and you don’t want to be like that, do you? If your government wants you to know something (like, say, that if you like your health care plan, you’ll be able to keep your health care plan) they’ll tell you.

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