Myriads of Indecency: Ruling Against Patenting Cancer Genes Makes Scientific, Legal and Ethical Sense

Addendum 2014-04-25: I have updated some of the links and an image below, since Myriad has now updated its site. Still the same moonshine, just a slightly polished bottle.

The decision of a US federal judge to rule against the patenting of the BRCA-1 and BRCA-2 genes this Monday came as a pleasant surprise after a period of several years when the ability to patent human genome segments within the US legal context has been taken for granted. The ruling - a result of the efforts of the American Civil Liberties Union in conjunction with the Association for Molecular Pathology, individual women and others - was, of course, not welcomed by the commercial company Myriad Genetics, which during the period when it thought it had its patent rights secured has been pestering genetic health service providers in the US and around the world with their absurd claims (by implied threats of massive compensation suits) to world monopoly on predictive genetic testing for breast and ovarian cancer, alternatively the cashing in of handsome licensing fees.

Just a quick browsing of the Myriad Genetics website tells you that this company embodies just about everything bioethics researchers have been warning for in connection to the commercialisation of genetic testing since the late 1980's. The University of Utah Research Foundation that held the claimed patent together with Myriad - and that may be assumed to have been cashing in handsomely as a passive partner - should be held equally, if not more, accountable for this attempt to undercut sound business law, decent health care ethical standards, scientific progress and, not least, the health of those people belonging to families burdened by hereditary cancer, whose access to the preventive opportunities offered through genetic testing, and forthcoming advances of medical research, has been undercut. But back to the poverty of Myriad Genetics.

To take just one example of this moral morass, Myriad offers predictive genetic testing for hereditary melanoma - a disease for which the actual risk figure is never given at the Myriad website. Clicking this product, you are immediately told that "Changes in the p16 gene increase cancer risk, making a melanoma diagnosis up to 50 times more likely by age 50", which of course tells you absolutely nothing about what risk of melanoma you actually run before the age of 50 if you have the indicated genetic mutation, but for most people convey the impression that a mutation makes your risk of contracting melanoma before 50 an even game. Clicking further on to the page supposed to give you an in-depth background to hereditary melanoma, you're exposed to the following explanation. Take a minute or so to read it!

Having that horrible mutation must make for a helluva risk, doesn't it? Actually: no! Even considering that the people involved in Myriad are presumably not proper clinical doctors (if they were, AMA would have revoked their licenses by now, right? - I'm being charitable to the US medical profession here), but a bunch of lab rats and business executives, this is as close to actual fraud you can get without actually committing it in the strict legal sense. Remember that nice graph you just saw? Its Y-axis measures not the actual risk of contracting melanoma, but - again! - the change in risk compared to what risk of contracting melanoma you would run were you a random member of the general population. But the impression of the picture is not that - the impression is - once again - that if you carry the mutation you run a 50/50 risk. This message is cleverly conveyed by the sinister manner in which the general population risk figure is illustrated in the graph. That blue staple to the left of the tall purple one seems to reach up to the 1 of the Y-axis, right? It's 1% - right? Or something close to 1%? Actually, no! Have a closer look at the graph:

It is "< 1%" = "less than one percent", i.e.the risk is not given. It could be 0.99%, it could be 0.0000000000000000000001% For all we know based on the information provided, the 50% increased risk may thus equal a 0.0000000000000000000002% risk. Who knows? Obviously not Myriad Genetics - or can they really be consciously hiding highly relevant facts from potential customers??
Just to get some perspective, hereditary melanoma is what geneticists refer to as a multi-factorial disease, i.e. it occurs as a result of the interaction between several genetic mutations and the environment. The p16 test offered by Myriad targets just one among many different genes where a mutation may increase the risk for melanoma. This should be conveyed by the explanatory leaflets downloadable from here, but is not explicitly mentioned with one word and not in the presentation of this test either. So, suppose your test negative in a "comprehensive" Melaris test, what Myriad so handsomely calls "no mutation detected" - this is compatible with you carrying any of the other known genetic mutations of other genes that increase the risk of melanoma, what Myriad refers to as the risk being "not ruled out". It would be interesting indeed to have melanoma or cancer patient organisations trying out that concept in US civil courts (in which case, the University of Utah Research Foundation must, of course, be included in the lawsuit)!

Hopefully, the ruling against patenting actual genes or naturally occurring genetic mutations will undercut the sour-tasting business of Myriad Genetics and other similar companies. For one thing, as a legal precedent, it has the potential of putting a stop to attempts of making ethically well-motivated and responsibly handled predictive genetic testing offered by national health services - for instance for colon-, breast- and ovarian cancer - unnecessary expensive and thus accessible for more people at risk. From a moral point of view, it is thus most welcome. From a legal point of view as well, since what judge Robert Sweet argues in the ruling, "...the claimed isolated DNA is not markedly different from native DNA as it exists in nature, it constitutes unpatentable subject matter" has been obvious to anyone from the outset interested in applying actual patent law, rather than laying the foundation for a new branch of business. If Myriad has a unique procedure to detect DNA, they may patent that, of course, but do they? It remains to be seen, but my guess is that they use the same state of the art science and technology as does any molecular genetic research lab, and that they knew very well that their only chance to make a buck was attempting the patenting of DNA trick.

The only defense offered by Myriad's and the UURF's lawyer was that patenting genes promotes "innovation" and therefore promotes health. False. In fact, the patent claims on BRCA-1 and BRCA-2 has made medical research based on these genes that may lead to deeper understanding of the mechanisms of these forms of cancer, and thus to newer and better treatments, slower and/or more expensive. Patents have the potential of furthering innovation only when all of the basic scientific work has been done (until then, the scientific principle of openness, free sharing, access and use of information is far superior), and in the case of human genetics, identifying genes connected to disease-groups is just the first letter of the first name of that long process. When Myriad says "innovation" they mean business and so does - shame on them - the UURF.

Presumed Guilty Until Proven Innocent - Legal Security Out the Window in New Utah Law that Criminalises Miscarriage

Yes, indeed you read correctly! The US state of Utah has adopted a bill according to which women who suffer miscarriage are to be assumed guilty of murder, unless proven innocent. In reports from inside and outside the US, the flabbergasted reactions have taken up the themes of the so-called Pro Life movement now showing its true face ("so now we see, they're after women after all"), and the problematic or at least uncertain implications in relation to the classic Supreme Court ruling of Roe vs. Wade from 1974, that paved the way for legal abortion in the Unites States. But, in my view, the problematic aspects of this case go way deeper than that, and has little to do with the moral or legal status of abortion. This bill assaults basic principles of legal security that are a necessity for any country that wants to label itself minimally civilized, whatever regulation of abortion, pregnancy, etcetera, one then might want to adopt.

The bill originated in a case where a 17 year old pregnant woman that had passed the time limit for legal abortion allegedly hired some guy to assault her physically in the hope of thereby inducing a miscarriage. This did not happen, so the guy was convicted for something else than murder, presumably some form of attempt. The woman (technically rather a girl at the time of the event), however, turned out not to be possible to convict for anything. Horror!!! Hence the new bill.

I wonder if it is only us non-Utahits that find this reaction particularly twisted? First, the desperation of the 17-year old girl clearly says something quite salient of the situation that the authorities of Utah leave underage, involuntary pregnant females in. Perhaps doing something about that, huh?! But I presume that the morality underlying the bill would prevent anything in that vein - "Helping a slut? What's the matter with you?!", is the expected reaction. Another case of what becomes of the message of love when unattended to by secular reason - something I have commented on before. Second, an online-acquaintance's spontaneous reaction - as my mother's - to the news about the bill was a hands on analogy with the Taliban rule of Afghanistan, and this strikes me as dead right. This perverse obsession with punishment rather than prevention out of compassion is as clear a sign as anything of the supporters of the Utah bill sharing with the Talibans the same brutal idea of how to react to the plight of others. But this is not my main point.

Neither is my point about this case being another in a quite disturbing trend in developed nations to use the pregnancy as an excuse to treat women as instruments for one thing only: the population of the earth. This recent incident from Florida may remind readers about what I'm talking about. In my work in health care ethics, I have noticed a clear rise in enthusiasm among medical staff regarding the possibility of submitting pregnant women to treatments against their will for the sake of the fetus. Conclusion: women, when pregnant, are to be treated as means only and the worry about where to draw the line is of minor consequence. But let's do what philosophers often do: let us lend the supporters of such ideas the benefit of the doubt. Let's assume for the sake of argument, as the saying goes, that actions of women that endanger fetuses are indeed to be viewed as a potentially criminal offense.

On this assumption, my point is this: the Utah bill prescribes society to apply a principle of presuming all pregnant women undertaking any sort of action that may pose some danger to the health and well-being of the fetus they are carrying as guilty of an offense. It is not society that carries the burden of proof of demonstrating the actual occurrence of this offense, it is the accused. First of all, unless some rather vast changes (that will never pass even the first round of an appellate court and even less the supreme court) in the Utah criminal code are undertaken this implies that men and women are judged according to different basic legal principles. If that does not violate the US constitution, I wonder what does! But this is not all. The whole idea of presuming people guilty of crimes, in particular crimes that may be followed by harsh punishment, violates the most basic principle of a fair, just and sustainable legal system that is to be found. For, comically as it would be had it not been for the brutal stupidity of it all, as people like Stalin have proven beyond reasonable doubt, the only consistent application of this principle is the incarceration of the entire population. For, of course, men will have to be judged by the same standard, and as we know, one of the main threats to the health and well-being of women is the actions of men.

And here's the real irony of it all: the bill seems to imply that the entire population of political representatives that voted in favor of the bill, as the public servants that will be enforcing it, have to be prosecuted for exactly the crime described by the very same bill! One needs just a minimum of empathy and imagination to understand the effects of the Utah bill on the pregnant women of Utah. Whatever they do, they will risk having the police banging on the door, dragging them off on a presumed murder charge. For, as we know, anything a pregnant woman does may have effects (given the circumstances) that makes more probable some downside for the fetus. So, the main effect of this new policy will be the inducement of severe fear and stress on pregnant women - a factor well-documented to pose a serious health risk to both woman and fetus. So, come on you Utah law-makers, let's have it all out and see you in court!

How our Compassion Reveals a Moral Abyss

Yesterday, BBC reported that the official death toll of the Haiti disaster is now 230 000, thus approaching the sum of lives claimed by the 2004 Indian Ocean Tsunami. Just as with the Tsunami, people and nations all over the world have reacted as we all expect from a standard of minimal decency: with horror and compassion put into action. Massive support programs have been set in motion to come to aid in the face of the unspeakable suffering and large numbers of voluntary individuals with useful skills have devoted time, resources and energy to the same end. Let it be that some of the initiatives have seen a bit odd, like the fixation of the US on tools of violence as the top priority when sending over 10 000 troops, or the outright bizarre, like this case that I covered in a former posting.

All of this is in line with the complex model of the human cognitive, emotional and motivational apparatus so famously sketched by David Hume in the 18th century: Besides experiencing and caring for ourselves, we have the evident natural ability to know the plight of others and the innate drive to be motivated by this knowledge. This picture still holds in most respects as modern psychological research and cognitive science advances - in fact, most of what is done in these fields build essentially on the basic psychological models of Hume. Similarly, modern science debunks the simplistic picture of human nature as essentially self-centered and egoistic in much the same way as Hume and his approximate contemporary Bishop Joseph Butler did: All of the tricks employed by advocates of psychological egoism to explain away evidence of non-selfish human motivation rests on a faulty picture of the human cognitive and motivational apparatus. What the psychological egoist would claim about our compassion and willingness to help in the face of the Haiti tragedy is that these things are mere side-effects of our striving for an emotional or material reward. Obviously, we may forget the material side - no one expects anything back from Haiti or its people; we even tolerate and understand that they are many times angry and disappointed at the result of the aid efforts when these fall short of meeting the needs. But the egoist has one more card up his sleeve, namely, the conjecture that we help because we strive for the feeling of satisfaction that being helpful provides. This argument, however, as Butler and Hume pointed out, puts the carriage in front of the horse, since it fails to take into account the source of the feeling of satisfaction: the fact that we need or want to come to aid. This is what motivates us - the emotional reward comes afterward. Modern cognitive science confirms this picture in terms of the biochemistry involved in motivation, emotion and feeling. The role of the neurological reward system is to uphold a system of motivation that in itself is not directed at achieving rewards or avoiding punishment, but at doing whatever it is one strives or wants to do. Only in special circumstances will our motivational attention be directed at the effects of the reward system (such as when we push ourselves to do something that we have a strong motivation not to do).

However, as Hume noted, our motivational capacities are at the same time rather arbitrary when it comes to our relations to other people, depending in turn on what associations between ourselves and others that are present in the mind. So, although we have that natural capacity for perceiving the emotional states of others that Hume called sympathy, and that enables us to identify the feelings, moods and affective states of others in terms of similarity and closeness to our own mental states, what we do in response to such perceptions is a rather open question. Moral reasoning, therefore, has to be about making such responses systematic and coherent, or at least to formulate an ideal pattern of motivational responses that we accept as desirable - the virtues in terms of prudence, benevolence and justice.

Since Hume's days, further factors influencing how we react to the plight of others have been mapped in psychological research, besides associations of similarity and closeness. For instance, various situational factors such as present mood is clearly influential and likewise regarding our sense of certainty with regard to our belief in our perception. Therefore, if I'm really pissed off when being asked to contribute to the Haitian cause I may end up not contributing just because of that, not because I fail to empathize with the victims. Or, if I doubt that my donation will really help these victims or that the situation is really as bad, this may counteract my willingness to give. Other well-known factors are assembled under the headline of framing; properties of the circumstances we are in that influence either our motivation or our tendency to act on it, such as threats or manipulations from other people. Moral thinking, ethical theory and our normative societal institutions (such as the legal system) have found various ways to get around all of these potential hurdles for moral reason to be able flourish. However, there is a further much more disturbing factor, having to do with the spatial-temporal denseness or concentration, and perhaps contrast to what one is accustomed to, of the perceived need.

Already during the aftermath of the Tsunami, UN aid officials pointed out that these sort of death numbers is what is ordinary due to poverty and starvation even in the absence of disastrous events such as storms or earthquakes. Rejoicing the willingness of people to give at the time, they expressed the hope that this willingness would continue in the face of this fact. This did not happen. Similarly, the Haitian death toll equals the number of children that die due to poverty every 10 days! Very many people are perfectly aware of this and there is no government anywhere that does not know these facts. But do they react proportionally to the way they react in the face of the Tsunami or Haiti tragedies? Of course not.

The explanation seems plain and straightforward. Our motivational system makes us prone to respond even to vast needs of many others when this collection of needs is experienced as spatio-temporarily concentrated and salient. Thus our admirable compassion for the victims of the Haitian disaster. But the flip side to that coin is that this property of our motivational system steers our motivation clear of being influenced by clear and certain knowledge of much much larger disasters when these are stretched out over larger portions of space-time and experienced as part of the ordinary. This is what makes us tolerate the ongoing processes that create this situation, some of which have been so well described by Thomas Pogge, rather than respond in a way similar to particular disasters such as the Tsunami or the Haiti earthquake.

Thus, the very source in human nature of the compassion that forms the root of our notion of morality is also the source of a virtual moral abyss. The challenge then seems to be: how do we get around this obvious lack of moral rationality without thereby sacrificing the sort of compassion we are already equipped with?