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Studies in History and Philosophy of Biological and Biomedical Sciences 48 (2014) 250e257

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Studies in History and Philosophy of Biological and


Biomedical Sciences
journal homepage: www.elsevier.com/locate/shpsc

Disease as a theoretical concept: The case of HPV-itis


Alex Broadbent
Department of Philosophy, University of Johannesburg, PO Box 524, Auckland Park 2006, South Africa

a r t i c l e i n f o

a b s t r a c t

Article history:
Available online 5 September 2014

If there is any value in the idea that disease is something other than the mere absence of health then that
value must lie in the way that diseases are classied. This paper offers further development of a view
advanced previously, the Contrastive Model of Disease: it develops the account to handle asymptomatic
disease (previously excluded); and in doing so it relates the model to a broadly biostatistical view of
health (where before the model was neutral in the naturalism debate). The developments are prompted
by considering cancers featuring viruses as prominent causes, since these appear to amount to cases
where the prescriptions of the Contrastive Model could be followed, but arent. The resulting Irrelevance
Objection claims that the Contrastive Model is irrelevant to medical science and practice. The paper seeks
to rebut the Irrelevance Objection.
2014 Elsevier Ltd. All rights reserved.

Keywords:
Cancer
Virus
Disease
Health
Contrastive model of disease
HPV

When citing this paper, please use the full journal title Studies in History and Philosophy of Biological and Biomedical Sciences

1. Disease and health


Many discussions of health assume a rough equivalence between lack of health and presence of disease, and vice versa. Thus
Christopher Boorse begins his seminal paper on the concept of
health:
It is a traditional axiom of medicine that health is the absence of
disease. What is a disease? Anything that is inconsistent with
health. If the axiom has any content, a better answer can be
given. The most fundamental problem in the philosophy of
medicine is, I think, to break the circle with a substantive
analysis of either health or disease. (Boorse, 1977, 542)
Boorses assumption is a reasonable methodological one for the
purposes of deciding whether health and disease are natural or
normative concepts, and it is shared by his philosophical opponents. That debate has developed without making a clear distinction between the concepts of health and absence of disease, nor
between disease and absence of health, and it is common to see the
two dened together (a clear example is Cooper, 2002).
Not only would such a distinction not further the point of that
debate, there is also a sense of disease in which Boorses

E-mail addresses: abbroadbent@uj.ac.za, a.b.broadbent@gmail.com.


http://dx.doi.org/10.1016/j.shpsc.2014.07.010
1369-8486/ 2014 Elsevier Ltd. All rights reserved.

assumption is right. A common medical usage refers to any nonhealthy state of a body part as diseased. So we might call the
area of a bone where a fracture occurs diseased, in this sense. And
we would not, in this sense of disease, distinguish the fracture
from the surrounding inammation of soft tissue: both bone and
soft tissue are said to be diseased.
But there are other questions to ask about disease than whether
it is natural or normative, and there is another sense of disease for
which Boorses assumption is incorrect. Having a disease in the
sense of some particular disease entails the absence of health, but
the absence of health entails neither having any particular disease,
nor any disease at all. We clearly do not say that a broken leg is a
disease in this other sense of disease, while we clearly do say that
inuenza is a disease in this sense. And in this sense, we clearly say
that inuenza is a different disease from cholera. This sense of
disease is the one at issue in this paper. It may be that in some
contexts, disease and ill health are synonymous; but there are
other contexts where they are not synonymous. Analogous points
apply to other concepts that can be used both sortally and to
indicate the absence of something else. Robbery is a crime may
mean not only that it is criminal but that it is a distinct sort of
criminal act from theft, fraud or taking without consent (an English
statutory offence introduced to handle joy-riding, which escapes
the denition of theft because there is no intention to permanently
deprive). To take another example more familiar to philosophers,

A. Broadbent / Studies in History and Philosophy of Biological and Biomedical Sciences 48 (2014) 250e257

the analysis of event needs to consider both what makes events


different from states of affairs, and what makes one event different
from another. And so on.1 It is the concept of disease revealed by the
contexts where disease is used to individuate, classify, sort, or
otherwise distinguish one disease from another or from the mere
absence of health on which I now want to focus.
The motivation to think about disease as distinct from absence
of health comes from the fact that diseases are classied: they are
distinguished from one another, and they have been for a long time.
The fact that diseases are distinguished from one another raises
two sets of questions. First, why are diseases classied as they are,
or indeed at all? Is it historical accident? Is it useful to differentiate
diseases from each other, and are some ways of differentiating
diseases more useful than others? Does the differentiation reect
reality in some way, and do some ways of differentiating diseases
reect reality better than others? Second, the fact that we classify
diseases means that an equivalence between disease and ill health
cannot be assumed, not even roughly. If there are different diseases,
then there might be gaps between diseases: health states that are
not good, but that do not meet the denitional criteria of any disease. Is this possibility in fact the case? Is there a medically or
scientically important difference between mere ill health, and
disease? If so, what is the signicance of calling a health state a
disease?
These questions have not been as prominent in the philosophical literature on health as the question whether health and disease
are natural. But nor have classicatory issues been entirely overlooked. They are central in philosophy of psychiatry (see e.g.
Kendler & Parnas, 2012), and in the philosophical literature on
medicine more generally, classication issues have drawn attention
in the more clinically oriented end of the philosophical literature
(e.g. Jutel, 2011; Kutschenko, 2011; Nordenfelt, 2013).
Perhaps closest to the view that I shall defend here is Marc
Langes claim that diseases function as natural kinds in medicine.
Lange also notes that the questions of what makes all cases of a
disease belong together, and what differentiates one disease from
another, have received somewhat less attention than the
distinction between health and disease (Lange, 2007, 270).
Even though some of Langes views (such as his emphasis on
disease as an explanatory concept) are not far from my own, three
features of Langes treatment make me set it aside. First, there is a
difference of principle between his approach and mine. His theory
is devised with the purpose of according with medical practice and
our pretheoretic intuitions (Lange, 2007, 266). This is the standard
way of assessing the adequacy of a theory in metaphysics, but I
think that the medical context is different.2 In modern analytic
metaphysics, pretheoretic intuitions are supposedly treated like
empirical data in natural science. I have my doubts about the validity of this approach in analytic metaphysics, but even setting
those aside, it certainly seems to me that pretheoretic intuitions are
not the relevant data in the philosophy of medicine. Rather,
empirical data are the relevant datadin this case, data concerning
the success of different disease classication systems, as measured
by the effectiveness of the medicine they ground. It is well known
that empirical data underdetermine classication systems, but they
do nevertheless have empirical consequences: if we had worked

1
By contrast, for some other concepts we indicate these two different but related
senses with different wordsdconsider the usual sense of space and place,
setting aside architectural phrases such as a space. We do not seem to have any
such distinction for time, though, and must clarify with point in or interval.
2
In fact I have my doubts about this methodology in pure metaphysics too, but
that is a wider debate.

251

with grue rather than green then we would have made a lot of false
predictions about the colour of emeralds from 2000 AD on.3
The second feature of Langes approach that gives me difculty
in using it as a building block is that I see the history of the concept
of disease as displaying some considerable variation, whereas he
seems to see the concept of disease as having a single, clear
meaning. On his view, diseases are natural kinds, and they play an
explanatory role. On my understanding, the concept of disease has
differed at different times, and it is too quick to conclude from a few
supporting examples that it has a univocal sense throughout
medical history. Lange writes, for example:
Plausibly, etiology unites various tokens of the same disease and
differentiates them from tokens of other diseases. (Lange, 2007,
271)
While I agree with Lange that this is plausible, I am not satised
either with plausibility as a relevant test for truth in this sort of
inquiry, nor that others nd it equally plausible. The multifactorial
turn in modern medical thinking, informed in part by the growth of
modern epidemiology, has created a situation where it is often
regarded as obvious that diseases should not be classied by their
causes (see also Broadbent, 2009, 306e308, 2013, 145e155). Lange
acknowledges this, and concludes that the concept of disease is
now being abandoned; but I see this as a change in the concept of
disease. This might seem little more than a verbal difference, but I
think my approach is more faithful to the actual usage of the term
disease in medical and especially epidemiological circles.
Recall, moreover, the rst difference between my approach and
that of Lange: he seeks only to describe, while I also seek to prescribe. I think the concept of disease has been useful, and that the
reasons for its usefulness can be identied. This drives me to make
prescriptions about how the concept of disease should be understood and developed in the future, based on those reasons for its
past usefulness. Thus even if I agreed that the concept of disease is
being left behind, I would argue that it ought not to be.
In previous work, I have discussed the history of the concept of
disease, and sketched a theoretical model of disease, which I call
the Contrastive Model (Broadbent, 2009, 308e310, 2013, 157e161).
The immediate purpose of this paper is to develop the Contrastive
Model of Disease by defending it against a specic objection. This is
not as self-serving as it may sound, since the objection will, in one
form or another, stand against any theory of disease. So the larger
purpose of the paper is to show the medical importance of disease
classication, and of a distinction between disease and ill health
more generally.
The objection arises when the criteria proposed for classifying
diseases do not match up with the way diseases are in fact classied, either by practical medicine or medical science. This suggests
that the proposed criteria for the classication of disease are
irrelevant to the goals of practical medicine, or alternatively of
medical science. I call this the Irrelevance Objection, and I will
defend my Contrastive Model against it, since that is the theoretical
model I believe in; but an Irrelevance Objection can be raised
against any theory of disease classication that says something
more than that a disease is whatever medicine or science calls a
disease. Defeating the Irrelevance Objection will go a long way
towards explaining the point of classifying diseases according to
the classication criteria proposed by the Contrastive Model, and

3
Nelson Goodman famously argued that we have as much evidence for the claim
that all emeralds are grue as we do for the claim that they are all green, where grue
was dened as green and rst observed before 2000 AD, otherwise blue (Goodman,
1983, 59e83).

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A. Broadbent / Studies in History and Philosophy of Biological and Biomedical Sciences 48 (2014) 250e257

also towards explaining the point of having a theoretical model of


disease at all.
I will focus on a particular class of diseases, namely cancers in
whose onset and development viruses play a causal role. The
rationale for this choice will be clearer after I have set out the
Contrastive Model of Disease, in the next section. In Section 3 I
develop the Irrelevance Objection, using the link between cancers
and viruses as the central test case, and in Section 4 I seek to reply
to the objection. Section 5 develops a counter-objection, arising
from the fact that the Contrastive Model seems to require that
diseases not develop stochastically, which appears to be a possibility in the case of cancers. The reply to the Stochasticity Objection
requires that the Contrastive Model allows asymptomatic cases of
disease, which in its previous form it did not; thus in Section 6 I
develop the Contrastive Model so as to handle asymptomatic disease. In doing so, I align it with a broadly Boorsean biostatistical
view of health.
2. Models of disease
The historical reality is much more complicated, but it is not
entirely unjust to distinguish two traditional ways of thinking
about disease, which I call the monocausal model and the multifactorial model.4 The term model is better than theory because
these are not explicit philosophical theories, specifying explicit
necessary and sufcient conditions on disease-hood; nor are they
explicit scientic theories. They are neither empirical nor metaphysical claims. Rather they are ways of conceptualising disease.
One could have a debate about whether the concept captures some
natural kind, or not; but that is not my current interest. I am
interested in prior questions: what the concept is; and what it
ought to be if it is to serve the medical and scientic purposes to
which it is put.
The monocausal model rose to prominence in the nineteenth
century, and is characterised by the idea that each disease is
caused by one particular microbe e and by one alone. Only an
anthrax microbe causes anthrax; only a typhoid microbe can cause
typhoid fever (Koch, 1876; quoted in Evans, 1993, 20). Taken
literally, this claim is ridiculous. Any event, including any occurrence of disease, has numerous causes. The idea behind the monocausal model is best reconstructed as the claim that for each
disease, there is a cause that is both necessary and circumstantially
sufcient for the disease.
The circumstantial sufciency of classicatory causes picked out
by the monocausal model is most famously expressed in Robert
Kochs postulates for proving that a particular agent causes a
particular disease. These postulates amount to an attempt to
specify circumstances in which an agent will be sufcient to produce a disease, if indeed it is a cause.
The necessity in the monocausal model is imposed by denition,
as K. Codell Carter does such an excellent job of bringing out. No
empirical work proved that only a typhoid microbe can cause
typhoid fever, because no empirical work can prove this. As Carter
puts it:
If hydrophobia is an extreme inability to swallow, it really can be
caused by blows to the throat, by psychological factors, or by the
bites of rabid dogs . As long as diseases were dened in terms
of symptoms, different episodes of any one disease simply did

4
Annemarie Jutel distinguishes statistical and nosological classication, and
traces these two traditions back to John Graunt and Thomas Sydenham respectively
(Jutel, 2011, 190). This is not quite the same distinction as I am drawing, I think, but
there are surely connections, which I regret that I do not have the space to explore
here.

not share a common necessary cause. And no research, however


brilliant, can nd what isnt there. (Carter, 2003, 37)
Unless diseases are dened in terms of causes, then the possibility
remains that a given set of symptoms might arise from more than
one constellation of causes, having no common element other than
those elements that are also common to good health, such as the
presence of oxygen in the atmosphere. (This is a corollary of what is
known in the philosophical literature on singular causation as the
problem of pre-emption.) No empirical evidence can establish that
diarrhoea is not cholera unless caused by Vibrio cholerae, just as no
evidence can settle whether all mammals give birth to live young.5
Together, necessity and circumstantial sufciency yield the
consequence that there can only be one cause satisfying both,
because if there is more than one, then the necessity of one blocks
the sufciency of the rest, and vice versa (Broadbent, 2009, 303,
2013, 152); hence the term monocausal.
The monocausal model of disease was bound up with medical
advances: antibiotics and vaccinations, for example. It is striking,
therefore, that modern thinking about disease has drifted towards
the multifactorial model, which I have elsewhere characterised as
the simple lifting of the restrictions of the monocausal model. On
the multifactorial model, a disease may lack any cause that is
necessary by denition for its occurrence; and it may lack any cause
that is sufcient for the disease in clearly specied circumstances.
The shift has been prompted by a shift in the disease burden in
developed countries to chronic, non-communicable diseases, such
as cancers, heart disease and diabetes. In the absence of a clear
defence or motivation for the restrictions of the monocausal model,
those restrictions have simply been lifted, as the development of
modern epidemiology has shown that the etiology of these diseases resists a monocausal treatment, and would render a classication exercise along the lines suggested by the monocausal
model radically deviant from the classications that seem most
advantageous from either a clinical medical or a public health
perspective.
Neither the monocausal model nor the multifactorial model is
satisfactory. The monocausal model is hard to defend. Why just one
cause? Why not more than one classicatory cause? Moreover, the
motivation for classifying diseases by their causes cannot be left at a
vague allusion to historical success, which after all may not be
attributable to conceptual advances in the disease concept, but to
more down-to-earth progress of an empirical kind. On the other
hand, the multifactorial model is a triviality, if all it says is that
diseases have multiple causes. The same goes for any event at all.
The multifactorial model of disease thus says nothing distinctive
about disease at all, and provides no answer to the questions we
began with, concerning the nature of disease and the signicance of
disease classication. And it is well established that classication
does make a difference to the empirical success of a science. If
classication systems are ridiculous, they lead to swift and dramatic empirical error. An experiment to establish the conductivity
of copper relies on the classication of substances into metals and
thence into copper; and an experiment to establish the conductivity of objects in my pocket would be entirely useless, because
objects in my pocket is not the sort of category that one can
employ in reliable inductive inferences (Goodman, 1983, 59e83).
So although it would be too hasty to chalk up the successes of early
twentieth century medicine to the monocausal model of disease, it
would also be too hasty to dismiss the notion that the monocausal

5
I assume, of course, that gives birth to live young is part of the denition of
mammal. If you nd the assumption objectionable then substitute some other
denitional characteristic of mammals.

A. Broadbent / Studies in History and Philosophy of Biological and Biomedical Sciences 48 (2014) 250e257

model of disease had anything to do with those successes, just as it


would be wrong to dismiss the role of the periodic table of the
elements in various successes in the history of chemistry, even if it
is Whiggish to chalk up all the successes of chemistry in that era to
the construction of the periodic table. Classication is a component
of inductive inference, and thus of scientic enterprise.
The Contrastive Model of Disease is intended as a response the
difculties for both monocausal and multifactorial models. In previous work I argued that in order for D to count as a disease, it is
necessary for the following three conditions to be satised
(Broadbent, 2013, 158).
SYMPTOMS
CASES
CONTROLS

Cases of D exhibit symptoms, which are absent


from controls.
These symptoms are caused by C1, . Cn together.
At least one of C1, . Cn is absent from controls.

The Contrastive Model is motivated by two main objectives, one


more concrete and one more abstract. The concrete one is to lift the
restriction on the number of causes imposed by the monocausal
model, while still requiring that diseases be dened by their causes.
CASES require that symptoms be caused by a certain pattern of
causes. Here, be caused by does not mean be exclusively caused
bydthere are of course many other causes in the history of any
case of D, as well as C1, . Cn, going back ultimately to the Big Bang.
But for a case to be a case of D, the dening causes C1, . Cn must be
present, according to the condition imposed by CASES. Then
CONTROLS require that, in every control, at least one of C1, . Cn is
absent. This formulation permits that the number n of classicatory
causes C1, . Cn may be greater than 1. So, for example, swine fever
is caused by the symbiotic action of a virus and a bacterium. At least
one of these is absent in every member of the class of controls.
The denition of a disease thus depends on the population of
the class of controls. It is an interesting question how CONTROLS
should be dened. The minimal constraint imposed by SYMPTOMS
is that no member of CONTROLS displays all the symptoms specied in SYMPTOMS. That is not enough, however. There are two
kinds of difcult case that need to be considered: cases of immunity, and cases of asymptomatic disease. In both cases, the causes
specied in CASES may be present in individuals without SYMPTOMS. The question for the Contrastive Model is how these cases
can be excluded from CONTROLS in a way that gives principled
expression to the notions of immunity and asymptomatic disease.
In previous work, I have given a model of immunity (Broadbent,
2013, 159), but not of asymptomatic disease. Cancers caused by
viruses present a particular challenge in the latter respect, and I
want to reserve discussion for subsequent sections. For now, the
point is that the denition of a disease depends not only on a
characteristic pattern of causes, but on what is included in, and
excluded from, CONTROLS.
The model is contrastive in the sense that diseases are dened
by a contrast between cases and a non-universal set of controls.
This feature of the modeldcontrastivitydanswers the more abstract question about disease classication previously alluded to, by
linking the classication of diseases by their causes to the
contrastive causal explanation of classes of cases of ill health. On
Peter Liptons analysis of contrastive explanation, to explain a
contrast, or difference, is to cite a causal difference between the fact
being explained and the foil against which it is contrasted (Lipton,
2004, 42). Thus to call a set of symptoms a disease, on the
Contrastive Model, is to say that we have a causal explanation of the
difference between people with these symptoms, and healthy
controls who lack these symptoms. This is a general explanation, in
the sense that it holds good for the entire class of people with the
disease.

253

The Contrastive Model also offers an answer to the second, more


abstract question alluded to above, namely, what the point of
classifying diseases by their causes might be. To do so is to explain
the disease, or more specically, to offer a general explanation for
the difference between people with the disease and people
without.
The lack of this kind of explanation in the medicine of his day is
what Jacob Henle was complaining about in this delightful passage:
Only in medicine are there causes that have hundreds of consequences or that can, on arbitrary occasions, remain entirely
without effect. Only in medicine can the same effect ow from
the most varied possible sources. One need only glance at the
chapters on etiology in handbooks or monographs. For almost
every disease, after a specic cause or the admission that such a
cause is not yet known, one nds the same horde of harmful
inuences e poor housing and clothing, liquor and sex, hunger
and anxiety. This is just as scientic as if physicists were to teach
that bodies fall because boards or beams are removed, because
ropes or cables break, or because of openings, and so forth.
(Henle, 1844; quoted in Carter, 2003, 24)
Where Henle says scientic, we can clarify the point by
substituting explanatory. Cataloguing the causes of falling is less
explanatory than a theory of gravity, because it does not provide a
general difference between falling objects and non-falling ones.
Likewise, cataloguing the risk factors of lung cancer is less
explanatory than identifying a causal difference between people
with cancer and those without.
Henles jibe is uncomfortably applicable to modern epidemiological explanations for disease, referring as they do to a web or
constellation of factors, none necessary, and many overlapping
with the risk factors for other diseases. And many of the same
culprits feature on modern lists as on nineteenth century
onesdbad sex, poor food, and a stressful life, coupled with largely
unknown factors that in Henles day would probably be called
constitutional, and in ours are called genetic.
But we must not be too hasty in accepting Henles rhetoric.
What if there is no general causal difference between people with a
given cancer and healthy people? This question brings us to the
objection to the Contrastive Model that I want to develop and rebut.
3. The Irrelevance Objection
What happens when a theoretical model of disease makes
recommendations about disease classication, but those recommendations are at odds with what medical practice or medical
science actually do? According to the Irrelevance Objection, such a
situation shows that the theoretical model of disease is irrelevant to
medical science or practice.
Any claim about the principles according to which diseases are
in fact classied risks contradiction by actual medical or scientic
classicatory practice. A claim about the principles by which diseases ought to be classied, on the other hand, is not contradicted
by actual classicatory practice. But such a claim does call for
justication, and the need for justication is especially clear when
what is recommended is a change of actual medical or scientic
practice. The Contrastive Model is prescriptive, not descriptive. But
as a rule, prescriptive philosophical theories become incredible if
what they prescribe is too wildly deviant from the existing situation. Certainly in the philosophy of science, where once it was de
rigeur for philosophers to seek to set science on a sound epistemological footing, it has become unfashionable for philosophers to
seek to tell scientists what to dodto tell them, for example, how to
decide whether evidence conrms a theory, or which parts of their
theory to believe. This humility possibly arises from the evident

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A. Broadbent / Studies in History and Philosophy of Biological and Biomedical Sciences 48 (2014) 250e257

successes of science, contrasted with the lack of such dramatic


progress in philosophy. The contrast suggests that philosophers
could learn from scientists rather than the other way round, or at
any rate that scientists know better than philosophers how to do
science.
Likewise, we might suppose, doctors, epidemiologists, and
others in the health professions know better than philosophers
how diseases are best classied. When the Contrastive Models
prescriptions conict with actual practice, they ought to be
ignored; and when they accord with practice, they are redundant.
Either way, the prescriptions of the model are irrelevant to medical
and scientic practice.
Some diseases t the Contrastive Model well. By and large, they
are the same diseases that t the monocausal model, namely diseases of infection, parasite and nutritional deciency, augmented
by a number of extra diseases, such as swine fever, which are diseases of infection, parasite or deciency for which the monocausal
restriction proved troublesome. Other diseases clearly do not t the
Contrastive Model very well at all. By and large, these are the same
diseases that the multifactorial model developed to accommodate:
cancers, heart disease, diabetes, obesity, and so forth.
One reply to the Irrelevance Objection is that the diseases
currently characterised multifactorially are, in fact, poorly understood (Broadbent, 2009, 308e311, 2013, 157e161). The lack of a
causal factor common to every case of lung cancer that is also absent in every case where lung cancer is absent shows that we do not
yet understand lung cancer very well, in comparison to, for
example, tuberculosis. The Contrastive Model of Disease usefully
picks out this difference, and medical science should strive to attain
a state of knowledge where diseases can be classied by their
causes, even if that is currently a distant hope. The same ambition
proved useful in the late nineteenth and early twentieth century.
Multifactorial thinking may be epidemiologically useful, but it is a
stepping stone to better understanding, not an end point. In short,
one might insist on the prescriptions of the Contrastive Model, and
attribute differences between the Contrastive Model and modern
multifactorial attitudes to disease to shortcomings in our understanding of those diseases.6
The existence of cancers caused by viruses suggests that this
response may be too simple. Human papillomavirus (HPV) is
responsible for a very large proportion of cervical cancer, and
vaccination programs can have nearly 100% efcacy (RamagolaMasire, 2010, 96). On the face of it, cervical cancer would be a
prime candidate for reclassifying according to its causes: as HPV
disease, perhaps. Yet it is not. This suggests either that medical
science is missing a valuable opportunity for improving itself, or
that the recommendations of the Contrastive Model are not in fact
advantageous to medical science.
There are many strains of HPV, of course, and one might seek to
argue that this is why cervical cancer is not reclassied as the
Contrastive Model would recommend. But this would be a weak
reply. There are also many strains of Orthomyxoviridae and Salmonella, and that does not prevent us identifying inuenza and
salmonellosis as the diseases caused by those viral or bacterial
agents, respectively. So that cannot be the reason that cervical
cancer is not reclassied. Nor would the existence cases of cervical
cancer without evidence of HPV infection provide an obstacle to
reclassication along the lines recommended by the Contrastive
Model. Classication means excluding something; and just as
cholera excludes many cases of diarrhoea, and rabies excludes
many cases of the inability to swallow, we might choose to exclude

6
This, roughly, is the line I have taken elsewhere (Broadbent, 2009, 308e310,
2013, 157e161).

cases of cervical cancer without HPV in their etiology from HPV


disease. A third obvious but unworkable line of defence is to point
out that HPV causes many other diseases too, such as warts, as well
as cancers of other parts of the body, and that many strains have no
apparent effect at all in most people. But this picture is not
exceptional for infectious diseases, and does not generally prevent
the causal classication of a disease. The Contrastive Model has
resources to deal with this situation, if we decide that the relevant
contrast is with people who are healthy, not people who have other
diseases. There is nothing in the model that prevents diseases from
sharing some causes. What matters, rather, is that the causes are not
all present in any person in the control group.
HPV-itis would t the Contrastive Model of Disease. The fact
that cervical cancer is not reclassied as HPV disease cannot
therefore be ignored by the proponent of the Contrastive Model.
The existence of a disease that apparently ts the Contrastive
Model but nonetheless is not medically classied in the way that
the Contrastive Model recommends is more telling than the existence of so-called diseases that simply fail to t the model. If
medicine will not reclassify a disease along the lines suggested by
the model even where there is a close match, what credibility can
possibly attach to any more sweeping recommendations for
reclassication in cases where there is a signicant mismatch between the disease that is in fact recognised by medicine, and the
diseases that would be recognised if the Contrastive Model were
enforced?
4. Answering the Irrelevance Objection
The Irrelevance Objection can be subdivided, depending on
exactly which set of goals the Contrastive Model of Disease is said to
be irrelevant to, and the rst step to an effective answer is specifying which goals are at issue. The Medical Irrelevance Objection
says that the Contrastive Model is irrelevant to the goals of medicine, to include, in this context, the goals of public health policy.
Adopting the Contrastive Model would not help to make people
healthier, in other words, either in the clinical setting or in devising
policies at the population level. The Scientic Irrelevance Objection
is very similar, except that it says that the goals of medical science
are not well served by the recommendations of the Contrastive
Model, and thus that the Model is irrelevant to the goals of medical
science.
It will help to set the Irrelevance Objection out as a simple
argument, as it applies to the Contrastive Model in the case of
cervical cancer.
1. If a theory of disease makes a classicatory recommendation
and medical practice does not follow that recommendation,
then that theory is irrelevant to medical practice [premise]
2. The contrastive model recommends reclassifying cervical cancer
as HPV-disease (HPV-itis) [premise]
3. Therefore the contrastive model is irrelevant to medical practice
[from 1, 2]
This is the Medical version; by substituting science for
practice, one obtains the Scientic Irrelevance Objection.
I think the correct reply has two components, one challenging
each premise.
The rst reply is that the classication cervical cancer is not in
fact driven purely by medical interests, but reects social attitudes
towards sexuality, gender, and genitalia. Social factors potentially
affecting the classication cervical cancer include the fact that the
sexual activity of young women is a focus of public attention, and
the strong social distinctions between the sex organs of men and
women, as well as between the genitalia and other parts of the

A. Broadbent / Studies in History and Philosophy of Biological and Biomedical Sciences 48 (2014) 250e257

body. The same virus can cause cancer of the penis and of the anus,
but it is not unreasonable to hypothesise that the very different
social signicances of these body parts would tend to make a
classication of one disease aficting all three (cervix, penis and
anus) less likely.
It might be countered that the classication cervical cancer
has a much more straightforward public health goal. In support,
one might note that cancers of the penis and anus represent
much less signicant public health risks, especially in the developing world. Cervical cancer is the leading cause of cancer
deaths in sub-Saharan Africa (Ramagola-Masire, 2010, 93). But
this counter becomes implausible when one considers that many
of the public health measures to combat these three cancers
caused by HPV are the same. In particular, because the cancers
arise from the same virus acting on different parts of the body,
HPV vaccines appear to offer both women and men the same
protection against anal cancer that they offer women against
cervical cancer. This suggests that there is not a strong public
health reason to distinguish cervical cancer sharply from cancer of
the penis or anus, and that it may even be counterproductive to
do so, since that may make it harder to persuade men to have the
vaccination.7
Thus if there is resistance to classifying cervical cancer as the
same disease as cancers of the penis and anus, then the source of
this resistance may not be medical at all. It is plausible that there
would be a social resistance to thinking that the same disease can
afict the penis, the anus, and the cervix. These are body parts with
very different social signicances, which we are prone to project
onto the biology and pathology of the human body.
I am not saying that this is the source, let alone the only source,
of resistance to reclassifying cervical cancer along the lines suggested. (Indeed, my second reply will suggest another source of
resistance.) I am saying, rather, that one cannot necessarily infer
from the fact that medicine classies an afiction in a certain way,
that this is the most medically useful classication. To infer this
without further argument would be to assume there are no inuences apart from medical utility on the medical classication of
disease. But the assumption that the ostensible purposes of medicine are in fact served by contemporary medical classicatory
systems is clearly open to challenge. Medicine is subject to the
pressures and taboos of the societies in which it operates. This point
has been thoroughly discussed in relation to vaccination programs
for cervical cancer (see the essays in Wailoo, Livingston, Epstein, &
Aronowitz, 2010).
The second, and I think stronger, reply to the Irrelevance Objection is that the classication HPV disease is not in fact recommended by the Contrastive Model, contrary to Premise 2. The
Contrastive Model doesnt make recommendations about the
choice of contrast, whose cause is to be sought, and used to classify
the disease. If a general explanation of a contrast between healthy
and unhealthy persons is available, but medical practice does not
use it to classify the unhealthy persons as suffering from a common
disease, then that might be because the contrast is not medically
important. Until that possibility has been closed down, it will not
follow that the Contrastive Model is making an irrelevant
recommendation.
HPV infection is a very poor explanation of the contrast between people with cervical cancer and people without, because
exposure to the virus is so widespread. The situation is akin to a
classic example in the literature on scientic explanation.

7
In case it is wondered whether a distinction may be based in differences between treatment regimes for these cancers, note that there is no very effective
specic treatment regime for cervical cancer, once it has developed.

255

Syphillis explains why Bloggs rather than Jones has paresis,


since Bloggs has syphilis and Jones does not. However, syphilis
does not explain why Bloggs rather than Smith has paresis, since
Smith also has syphilis. Even though syphilis is a cause of
Bloggss paresis, a further causal difference from Smith is
required to explain why Bloggs has paresis while Smith does not
(Lipton, 2004, 42).
In the case of cervical cancer, there are two contrasts we might
explain. One is between persons with cervical cancer and those
who have neither the cancer nor are either infected with or
exposed to HPV. The other is between persons with cervical cancer
and others without the cancer who are infected with or exposed to
HPV. By classifying cervical cancer as HPV disease, we emphasise
the importance of the former contrast, and classify the disease by
the cause that explains it. But given how widespread HPV is, that
contrast is of much less importance than the second. And this
second contrast is one for which we do not yet have a general
explanation.
That is why the Contrastive Model does not recognize cervical
cancer as a disease, despite its link with a single virus. It is a
reasonable stance, if the general policy of using recognition as a
disease to mark out health conditions for which we have a general
explanation is a reasonable one. Far from being irrelevant to
medical practice and medical science, the Contrastive Model is in
fact motivated by the same factors that prevent medicine reclassifying cervical cancer as HPV-disease.
It may help to draw comparisons with other diseases. Phenylketonuria is classied as a genetic disease. For sufferers, the
chemical phenylalanine is toxic. Tuberculosis, on the other hand, is
considered to be an infectious disease, caused by infection with
tubercle bacilli. A degree of immunity to tuberculosis can be
inherited. Both diseases t the contrastive model, since they are
classied by causal differences between sufferers and nonsufferers. However, they could be reclassied so that phenylketonuria is caused by a pathogen, phenylalanine, to which as it
happens many people have an inherited immunity; while tuberculosis is a genetic disease, caused by a genetic vulnerability to an
organism that has at times been quite common in the environment,
even if it is now quite rare (Broadbent, 2009, 306, 2013, 153).
The reason that these classications are not adopted is that they
do not explain the medically important contrasts. Given that
phenylalanine is common in modern diets, and that for many
people it is safe, it does not serve the purposes of medicine to see it
as a poison, even though it is a poison for some people. In the case
of tuberculosis, the attempt to reduce tuberculosis incidence is
better served by classifying the disease by the bacterium rather
than the lack of an inherited immunity, because there is more one
can do to prevent infection than to ensure inherited immunity.
Moreover immunity can be obtained by means other than inheritance, for example, through vaccination. And people who become
infected with tuberculosis invariably suffer from it, and often
diedliving with tuberculosis is not a viable option. There is no
principled reason why all this could not be said from the perspective of a somewhat Byzantine classication system that classied
tuberculosis as a genetic shortcoming; but to do so would not be
especially helpful.
The situation of cancer is more similar to that of phenylkutenoria than tuberculosis. In principle we could classify cervical cancer as an infectious disease, like tuberculosis. But the
pathogen is much more widespread. And many persons live
with HPV, just as many persons are exposed to phenylalanine
without consequence, but which is not the case for tuberculosis.
Reclassication is a theoretical possibility but is recommended
neither by medical utility nor by the Contrastive Model of
Disease.

256

A. Broadbent / Studies in History and Philosophy of Biological and Biomedical Sciences 48 (2014) 250e257

5. The Stochasticity Objection


This reply is not quite complete. It might be met with the
following counter: What if there is no general difference between
HPV-infected persons with cancer and those without? What if the
occurrence of cancer among HPV-infected persons is in effect stochastic? Suppose, for instance, that two identical twins both develop
tumours, but that one enjoys a good blood supply, while the other is
just millimetres away from having a good blood supply. Suppose this
makes the difference between a life-threatening tumour, and one
that is not. The difference in tumour location relative to blood supply
is clearly a cause of the difference in outcome, but that difference is a
matter of chance or luck, from the point of view of explaining the
cancer. As in familiar cases such as rolling a die, this use of chance
or luck does not imply a commitment one way or the other
regarding physical determinism, but rather indicates that whatever
causal story underlies the process is effectively irrelevant to the
purposes at hand. The reason for the irrelevance in our case is telling
against the Contrastive Model: it may be irrelevant because it may
fail to be general difference between persons with the benign and
the malignant cancers. There may simply be nothing general to say
about the difference between persons with tumours that are wellsupplied with blood, and persons without.
Returning to the case of HPV, the possibility that stochastic
factors cause the difference between persons with HPV and persons
without cannot be ignored. If the Contrastive Model recommends
trying to divide up the disease so that a distinctive pattern of causes
explains every case, it may end up producing a disease for every
person, whichdapart from being ridiculousddefeats the purpose
of seeking a general explanation for disease. But if there is no
further general difference, then the exhortation to seek such a
difference cannot be acted upon except in this ridiculous and selfdefeating waydexcept, that is, by subdividing the cases until
general causal differences between cases and controls are found.8
I think the answer to this objection from stochasticity must depend
on the particular disease. If it turns out that there is no further general
difference between HPV-infected persons with cancer and those
without, then HPV-disease would, after all, be a reasonable disease
classication. It may not be all that useful, but it would presumably be
more useful than any other classication, if HPV infection is the closest
thing to a general causal difference between certain cancer-sufferers
and healthy persons. But if, on the other hand, some further causal
difference is uncovered, then it will make sense to incorporate this
into the disease denition. Of course we cannot tell in advance which
is the casedwhether the difference between HPV-infected persons
with cancer and without is the result of further general causal differences, or is stochastic. In that case, it is safer to assume that there is
a further difference to be uncovered, since the cost of stopping the
search and crying stochasticity too soon are much higher than the
costs of searching for a general difference that does not exist. To this
extent the Contrastive Model errs on the side of prudence.
In the event that a further general difference is clearly not found,
HPV disease could still be classed as a disease under the model,
with the non-cancerous cases being handled in the same way as
asymptomatic cases of disease generally. However, as mentioned
previously, I have not given an account of asymptomatic disease, to
which I now turn.
6. Developing the Contrastive Model
It is evident from the requirement that cases of disease feature
symptoms of ill health that the Contrastive Model of disease will

This objection originates in an anonymous referees helpful report.

not handle asymptomatic cases of disease. Some such cases could


be handled with tricks: an early-stage cancer that is asymptomatic
could be handled by taking an atemporal view of disease, for
example. But even when they work, tricks of this sort do not really
get at the underlying problem, which is that there really seem to be
cases of disease where symptoms are not present. If one denes
diseases by causes, as the Contrastive Model does, then one would
expect to be better placed to handle cases of this kind (better than
an account which denes diseases by clusterings of symptoms, at
any rate). It is thus disappointing not to be able to handle
asymptomaticity.
Moreover, the term symptom is subject to a vagueness that is
troubling if the goal of this exercise is to clarify the meaning of
another term, disease. Does symptom mean something that an
aficted person can report, or may it include something that an
aficted person is not aware of, but which may be apparent to an
examining doctordor even a casual observer (e.g. a ushed face)?
Do internal states of the body count as symptoms? Can blood
pressure, for example, count as a symptom? Worse, since blood
pressure can also be a cause of ill health, the model seems to suggest a rather improbably partitioning of states into symptoms and
causes.
Rather than try to untangle the complexities around symptom, I propose to align the Contrastive Model with Boorses
biostatistical view of health and disease, summarised as follows:
Health in a member of the reference class is normal functional
ability: the readiness of each internal part to perform all its
normal function on typical occasions with at least typical
efciency.
A disease [later, pathological condition] is a type of internal state
which impairs health, i.e., reduces one or more functional abilities below typical efciency.
(Boorse, 2011, 27; citing Boorse, 1977, 562dsquare bracket remarks present in 2011 text)
Boorse holds that health is normal function, and that disease is a
deviation from normal function. The Contrastive Model of Disease
would require modifying the latter claim, saying instead that a
disease is a deviation from normal function caused in a certain way.
This is how the Contrastive Model marks the difference between
the term disease used as a stuff-term, to mark out pathological
condition-hood generally, and disease as a kind-term, to sort and
differentiate pathological conditions.
If we borrow Boorses notion of normal function, and his strategy of referring to body parts and processes, then we can recast the
Revised Contrastive Model of Disease as follows. For a pathological
condition D to count as a disease it must satisfy the following three
necessary conditions.
DEVIATIONS

CASES
CONTROLS

Persons with D have parts or processes that


deviate (negatively) from normal functional
ability.
These deviations are caused by C1, . Cn
together.
At least one of C1, . Cn is absent from a set of
controls, which by default is the reference class
(age group of sex of species) used for
determining health.

This development of the Contrastive Model allows for asymptomatic disease. In place of a requirement of symptoms, the Revised
Contrastive Model requires a deviation from normal functional
ability, where that is understood in terms of statistically typical
contribution to survival and reproduction, relative to a reference

A. Broadbent / Studies in History and Philosophy of Biological and Biomedical Sciences 48 (2014) 250e257

class. The intuition underlying the original requirement of SYMPTOMS was that cases of disease must at least be cases of ill health.
The advantage of substituting a well-worked out account of health
for the simplistic requirement of SYMPTOMS is that it enables this
intuition to be given proper expression, and does not saddle the
account with an implausible commitment to the effect that all cases
of disease show symptoms.
One might object that this move saddles the account with an
even more implausible commitment: the commitment to Boorses
biostatistical theory of health, and with it, naturalism about health.
I do not propose to deal with that objection here, since to do so
would be to defend the biostatistical view of health, and naturalism
with it; and that is not the topic of this paper. But I do note two
points in favour of this alliance between naturalism about health
and contrastivism about disease. First, the Revised Contrastive
Model is not committed to every detail of Boorses account (indeed
it contradicts Boorses account of disease), but only to the viability
of some account of health based on the idea that health is a certain
kind of statistical normality. The extension of the reference classes,
and the justication for choosing those reference classes, may be
altered and amended without disturbing that basic insight, as may
the choice of survival and reproduction as the goals relative to
which normal function is dened.
Second, I note that a causal model of disease is a natural t for a
naturalistic view of health, such as the biostatistical model is. The
Contrastive Model recommends classifying diseases by complexes
of causes. This is in keeping with the naturalists view that health
and disease are out there, and not features of cultural or personal
preference. I have not sought to argue that nature dictates just one
way to do this, but I have urged that there are sometimes empirical
facts concerning which disease classications are better. Empirical
evidence always underdetermines theory, but it does not follow
that theory choicedor here, choice of classication scheme for
diseasesdis entirely a psychological or sociological matter.
A nal doubt one might have about the revised Contrastive
Model concerns the new denition of CONTROLS, which species
the Boorsean reference class as default. The discussion of Section 2
made it sound like investigators could simply stipulate the extension of CONTROLS, setting aside cases that required further investigation, and my treatment of immunity (elsewhere) relies on this
feature (Broadbent, 2013, 159). How is this compatible the spirit of a
biostatistical theory of health? Conversely, what is the rationale for
populating CONTROLS with members of the reference class, even
by default?
The rationale for starting with CONTROLS populated by the
reference class is that these are healthy individuals, by the denition of the biostatistical view. The rationale for deviating from this
default is to permit the sort of exceptionalism that is an inevitable
part of any real-world attempt at classication. The spirit of the
Contrastive Model is served provided that exceptions are explained
at some stage as cases of immunity, with another application of the
contrastive structure (Broadbent, 2013, 159). The spirit of the
biostatistical model is preserved because the human element in
choosing what falls under CONTROLS is ultimately subject to the
tribunal of experience, when the resulting disease classication
system is put into medical practice.
7. Conclusion
There is an important distinction to be drawn between disease
and mere absence of health. One way to draw that distinction is by
classifying diseases according to their causes, and one way to do

257

this is by classifying diseases according to causes that explain differences between healthy and unhealthy groups of medical interest. I have defended the Contrastive Model of Disease against the
objection that medical practice and science do not do what the
model says would best serve their interests, focussing on the case of
cervical cancer. I have argued that, contrary to appearances, the
Contrastive Model does not recommend reclassifying cervical
cancer as HPV disease. But I have also argued that even if it did, that
would not be fatal to the model. If the cases of HPV infection
without cancer were the result of stochasticity, then HPV-itis
would still be our closest thing to classication backed by a general
causal explanation. The cancer-less cases of HPV infection could be
incorporated as cases of asymptomatic HPV-itis. In order to
accommodate the latter, I have sought to develop the Contrastive
Model so that it handles asymptomatic disease, and in doing so
have aligned it with a broadly Boorsean biostatistical view of
health, which, however, I have not defended here.
Acknowledgements
A version of this paper was presented as part of a symposium on
cancer and viruses at the 2013 meeting of the International Society
for the History, Philosophy and Social Studies of Biology. I am
grateful to Mael Lemoine, Dean Peters, Anya Plutynski, Robin
Schefer, Danielle Swanepoel, and Michael Vlerick for helpful discussions, and to anonymous reviewers for helpful comments. Part
of this research was supported by a grant from the National
Research Foundation (Incentive Funding for Rated Researchers) of
South Africa.
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