The FDA and 23andMe puts a libertarian in a dilemma

An advantage astrologers have over genetic testing is that the prediction of astrologers are personally verifiable. An astrologer once emphatically stated that I had no chance of a career in international cricket or Bollywood. So far both claims have turned out to be remarkably accurate.

How does one personally verify a “12.5%” increased chance of lung cancer, the sort of number the vendor for genetic testing 23andMe produces? If one develops lung cancer how would one know that the chances were indeed 12.5%, not 6.25% or 25%?

We die only once. Whether one ends up with lung cancer or doesn’t, the veracity of the claim can be made only empirically. Meaning we need to see how many develop lung cancer out of 10, 000 people just like us.

Yet there is an element of scientific precision in the number, augmented by the decimal point. And it is precisely because genetic testing tends towards science not metaphysics that it falls within the dominion of the Food and Drug Administration (FDA). FDA does not regulate palm readers.

FDA has asked 23andMe to stop sales of its genomic testing.

As a libertarian seeped in the Austrian school of economics, I am generally disposed against regulations. I also share the sentiments of the monetarist Milton Friedman that the true costs of the FDA must also include the treatment opportunities foregone in their lengthy review process.

So it hurts me to be somewhat sympathetic of FDA’s stance on 23andMe, even as I think an outright ban was a tad harsh.

Genetic testing falls in that spectrum of the market where one reaps the benefits but spreads the costs. Economists call this a negative externality. Bankers are most familiar with this. Remember the adage “privatize your gains and socialize your losses.”

Who will counsel the person wondering if she should take anti-coagulants for a trans-Atlantic flight because her genomic analysis shows an 8% increase in developing blood clots over the population average?

Who will shoulder the blame for not anticipating the suicidal ideations of a man who takes his life for finding out that he is destined for Huntington’s disease within ten years?

Who will bear the costs for the overtesting and overdiagnosis that will inevitably result when people find out that they deviate from the population mean in the risk of various cancers?

Not 23andMe, which simply gets paid per Pandora’s box it opens.

The additional costs of investigation will be reflected in our insurance premium. The burden and legal risk will fall chiefly upon the already overworked primary care physicians (PCPs).

How will the PCPs advise? Must they advise a woman with a 22.2% increased risk of ovarian cancer differently from someone with a 6.7% increased risk? What is the threshold of increased risk of cancer for pursuing more tests? What are the tradeoffs of such pursuit?

These questions are expected when we are dealing with imperfect information. However, these questions need to be answered rationally and scientifically if genomics truly revolutionizes patient-centered medicine.

That is not to say positive externalities cannot emerge from genetic testing. My attempt at convincing my domestic comptroller to invest in an indoor mountain climber has failed for the third year. I feel I might have succeeded if I had genomic analysis that reported “6.2% higher than average risk from procrastination-induced heart disease” (of course, it might have backfired and led to tight control of my many epicurean activities).

The point is that the ban is excessive. Instead, a sort of Pigovian tax could have been imposed on 23andMe for every $99 it collected for issuing a genomic report.

Saurabh Jha is a radiologist and can be reached on Twitter @RogueRad. This article originally appeared on The Health Care Blog.

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  • Sara Stein MD

    FDA did not ask 23andme.com to stop selling their personalized DNA test kit, they asked them to stop making the health prediction/interpretation. (You can still get the results and download them into a separate app to get the interpretations). And yes, if my patient had an increased risk of ovarian cancer (or any other cancer), I would recommend lifestyle changes and increased surveillance. Would it be any different if someone came in with a strong Family History of a specific disease?

    • saurabh jha

      You are right. Raw data is still available, which makes the matter worse, in some respects.

      Out of interest what surveillance would you recommend? Annual ultrasound? Annual Ca 125? Six monthly? Every 3 years? Would you use an absolute risk threshold?

      Of course, I understand it would integrate patient preferences as well.

      • Sara Stein MD

        I think the goal with disease prevention (any disease, not just cancer) and prevention of recurrence is more than just patient medical history – It should also touch upon
        1) understanding family history – multiple generations if possible,
        2) careful analysis of lifestyle including diet, activity, stress, sleep, psychological, spiritual, social, family, financial, with appropriate prescription (not necessarily medication)
        3) looking at current surveillance algorithms and modifying them for the patient risk
        4) identifying the ability of the patient to comprehend and follow through with changes, including surveillance, and
        5) understanding genetic input including the limitations of these tests, if the tests are available
        6) Developing a personalized medicine plan for each patient and
        7) Following up on a regular basis forever (whether with you or another doctor).

        • saurabh jha

          You have reiterated the basic point that I had alluded: it is hard to offer anything concrete when the information is not only imperfect but without precedence.

          More information does not necessarily mean more knowledge.

          The mantra of personalized medicine does not meet the reality. It might well do so in the future. But we are not there yet.

  • saurabh jha

    In theory, perhaps. In practice, costs are diffused because imperfect information leads to seeking of other imperfect information, leading to testing and both true and false positives, as well as negatives. The owner of the information does not own the costs of the additional testing that such information might prompt the owner to pursue. We all do. If insurance was actuarially-priced, which it should not be for compassionate reasons, your assertion might hold true.

    On a semantic note, risk refers to quantifiable probabilities, where you know the denominator (see Frank Knight’s discussion of the difference between risk and uncertainty). Much of the numbers quoted as risk are not, in fact quantifiable probabilities, but epistemic probabilities.

    It is a truism that diagnostic information is, by definition, imperfect. But some information is more imperfect than others. Genetic testing needs more sound science to be sounder.

  • saurabh jha

    True, if genetic testing led to tests that had a sensitivity and specificity of 100 % and what was picked up was true disease and not overdiagnosis. That is unfortunately not the case because we have set tests to be very sensitive (so that we never miss plausible disease) at the expense of specificity (so that we call healthy people diseased), so a positive test is quite likely to be a false positive.

    I will concede that genetic testing can have positive effects on health by motivating some individuals to take care of themselves.

    The net effect of genetic testing, from a standard utilitarian perspective, needs empirical evidence. But I am not so sanguine that it will be overall positive at present time. Perhaps in the future.

    In any case, I do not support a ban.

  • saurabh jha

    100 % agree. And I think the FDA is key in enabling the most seamless passage through the fog of imperfect knowledge

    • PoliticallyIncorrectMD

      Sure, as FDA has a perfect record of being efficient, transperent and not politically motivated ; )

      • saurabh jha

        It will be there whether you like it or not. Better that it regulates well.

  • saurabh jha

    The gatekeeper does not have perfect information.

  • Arvind Cavale

    General rule of thumb should be “don’t ask a question if you don’t have a good answer”. This holds true for genetic testing too. We would all be better off if the FDA allowed us (patients and doctors) to follow this rule. Of course the FDA would beg to disagree.

  • saurabh jha

    The internet does not have scientific pretensions. Genetic testing does. See comment regarding why FDA does not regulate palm readers.

    The ability to deal with imperfect information does not correlate with intelligence or intellect. Ignorance spares none, although it punishes some more than others.

    • PoliticallyIncorrectMD

      There are innumerable things on the web that have “scientific pretensions” (Google “genetic testing”). Some things are true, many are not. By the way, same is true for esteemed peer reviewed journals.

      I do not define elites as those with “more intelligence or intellect”, but rather those who THINK they are “punished by ignorance” to the lesser extent than others (using your words).

      • saurabh jha

        I like your definition.

        Meanwhile you can make a list of things that you think the FDA should and should not regulate.

        Then ask if FDA should look in to the safety, efficacy and claims of accuracy of a new device set to replace a CAT scan.

        I am not suggesting that it should or should not.

        I think it will help your argument if you can identify why you think FDA should not regulate genetic testing. Is it because FDA should only concentrate on therapy and not diagnostic or predictive services, or is it some violation of the first amendment?

        • PoliticallyIncorrectMD

          Again, purposefully or not, you are making the discussion more convoluted and watered down than it has to be. Lets try getting back to the original point. In your article you seem to agree with FDA prohibition of genetic testing based on the fact that, at the moment, the medical community has no reliable way to react to the results. I do not think this is appropriate. In my opinion, the FDA’s only responsibility is to assure that performing the test itself is reasonably safe and that it measures what it says it does (presence of certain genes) with reasonable accuracy.

          • saurabh jha

            I am trying to understand your point of view.

            Do you think that it is unreasonable for the FDA to conclude that the accuracy and safety of genomic analysis is not yet reasonable?

            Or

            Do you think it is unreasonable for FDA to question genetic testing at all?

            From your original posts it seemed that you were arguing the latter point. It now seems that you object to FDA’s decision in this particular case, not the principle of their deciding such cases.

            BTW, there is a piece in this week’s JAMA that touches on this issue.

          • PoliticallyIncorrectMD

            Dr. Jha,

            You appear to have very unique stile of debating, when instead of addressing your opponent’s points you ignore them and lead the debate away from the original topic. I have to admit – it works! A am exhausted. I give up. You are right in whatever your elusive opinion is. Good luck in your future endeavors!

            PIMD

          • saurabh jha

            Sorry, I am just trying to understand your position on FDA’s specific ruling – i.e. this case.

            Do you agree with their ruling? If not, why not? Do you think the science of genomic testing is better than FDA’s assessment? If so, why?

            I’ve already expressed my concern, as I am quite inclined to. I am curious what you think. I know what I think and how I think.

            As I’ve said repeatedly, there is no right or wrong answer on this issue (shades of gray), so it is pointless imputing me with the motivation of seeking to be right.

          • Docscicle

            This has nothing to do with the science of genomic testing. It is about an individual’s access to information. That access should not be restricted.

  • saurabh jha

    Why? Because if big pharma produces another thalidomide people will go running to big government for solutions. Which means FDA 2.0.

    So no FDA, no FAA, no state medical licensing boards and pure contracts work very well in anarcho-capitalist theories.

    In real life you have this inconvenient thing called democracy. That wants safety, amongst other things.

    • PoliticallyIncorrectMD

      I think you missed my sarcasm. I was not advocating giving away individuals’ choices. To the contrary, I was supporting each individual being able to make a decision for themselves without the interference of non-elected government officials.

      Also, I did not call for abolishing FDA. I stated it has no business of regulating the access to scientific / medical information.

      Lastly, having non-elected office deciding what information the public is allowed to access is hardly an example of democracy, tyranny comes to mind. And what about that “inconvenient thing” called freedom? Can that be swept under the rug as long as it does not support your complex (but not clear nevertheless) argument?

      • saurabh jha

        I did not miss your sarcasm but it seems that you might have missed mine (I did not place an emoticon, sorry).

        I can see what’s troubling you though. It’s that FDA is restricting access to “scientific” information, not the FDA per se.

        It doesn’t seem that the FDA thinks that genetic information passes the science test, yet. You may disagree with their assessment, and the assessment of the meta-researcher John Ioannidis.

        Although you would have to define what exactly you mean by science when it comes to imperfect information, rather than labor the point about individual choices, etc.

        Of course, you could make the persuasive case that Milton Friedman made of completely abolishing the FDA and leaving it to the market, but I see you are reluctant to do that.

  • Thomas Luedeke

    While I can sympathize with the FDA not wanting panic ensuing as a consequence of these types of genetic tests (if not their actions), this technology is coming whether the FDA likes it or not. This is like the RIAA trying to stop music downloading – better to adapt than deny the inevitable.

    Of course, as a fellow libertarian, I’d question the basis for the FDA calling genetic tests a “medical device”. The FDA, like most bloated government bureaucracies interested in power and their own expansion, has a habit of ‘ergreifen mit beiden Händen’.

    Let the genetic tests commence. The interpretation and resolution is up to the individual and their physician.

  • Rob Burnside

    One of the healthiest debates I’ve read on Kevin Pho, and elsewhere, is featured in the comments below. Our thanks to both physicians!

    • PoliticallyIncorrectMD

      Thank you!

    • saurabh jha

      Thanks!

  • PoliticallyIncorrectMD

    Thank you. Well said! I tried too, but some people just enjoy hearing themselves speak.

  • saurabh jha

    I am startled by your originality (that’s sarcasm, btw).

    Simple question.

    Are you opposed to FDA’s deciding or FDA’s decision?

    Let’s try another.

    FDA believes that the science behind genomic testing is shaky. Do you disagree?

    And another.

    Do you think genetic testing falls in the realms of probiotics, palm reading, tea leaves and should not be regulated by the FDA or do you think it comes under the umbrella of CAT scans and should be regulated for minimal competence?

    • Docsicle

      Who said I was attempting anything original?

      Regardless, here are your simple answers:

      1. Both
      2. Red Herring
      3. Neither

      Bottom line… CAT scans are diagnostic tools, thus regulated. Genetic tests are not, thus should not be regulated. Everyone has a right to gain access to information about themselves and the FDA should not restrict access to that information. Period. (That’s not sarcasm, btw.)

      • saurabh jha

        This discussion is moving somewhere.

        Assuming you don’t think the FDA should be abolished, should it play any role in determining the minimum competency of diagnostic imaging such as CAT scans, MRI or a new device that supposedly replaces the two, such as optical coherence technology?

        By minimum competency I mean safety and efficacy (the device measures what it claims to measure).

        As a side, CAT scans also prognosticate and offer “information” and genetic testing can also diagnose. So the distinction between the two is not so clear cut.

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